The Division of Human Genetics, in the Department of Internal Medicine, offers outpatient and inpatient consultation services, performs clinical and translational research and participates in community education and outreach. Our physicians and faculty collaborate with colleagues throughout our medical center and around world. Additionally, the Master of Genetic Counseling Graduate Program addresses the rapidly growing need for genetics professionals.

Our comprehensive services include a Clinical Cancer Genetics Program with risk assessments and genetic counseling to 800 patients yearly and, as needed, their families. A Cardiovascular Genetic and Genomic Medicine Program, in conjunction with Ohio States Division of Cardiovascular Medicine, offers consultation for hereditary forms of heart disease at multiple clinics. And the Medical Genetics and Genomics Program provides risk assessment, genetic counseling and, when appropriate, genetic testing for the many different conditions that can run in families. These can range from bleeding and blot-clotting disorders to diseases of the skin, kidney, lung and eye. The Neuroscience Genetics and Genomics Program focuses on neuromuscular disorders, but also provides consultation for a wide array of neurological conditions.

Our program offers risk assessment tools for health care providers, including the interactiveFamily HealthLinkwhich allows you to estimate your own risk by reviewing patterns of cancer, heart disease and related conditions in your family.

Whether originating from a single gene, a chromosome or inherited genetic disorders encompass a broad span of conditions. Ohio State's Division of Human Genetics is a leader in providing the most up-to-date, thorough and advanced information available.

Genetic testing can be provided on a clinical or research basis. Genetic testing is routinely performed on a small sample of blood, saliva or cheek swab.

See original here:
Genetics | Ohio State Medical Center

Recommendation and review posted by Bethany Smith

In the United States, the National Center for Health Statistics estimates the life expectancies of males and females are 74.5 years and 80.2 years, respectively. For healthy aging, the Centers for Disease Control and Prevention (CDC) states that physical activity is key.

To find out whether physical activity had an advantage over genetics in promoting longevity, researchers at the Herbert Wertheim School of Public Health and Human Longevity Science at the University of California San Diego and other institutions conducted a nationwide study.

After analyzing health data of more than 5,000 older postmenopausal women, the researchers found that higher levels of light, moderate, or vigorous physical activity correlated with a lower risk of all-cause deaths. The findings expanded on prior studies that have shown that more sedentary time carries greater health risks.

These associations persisted across varying levels of genetic potential for living longer.

[The] findings support the importance of higher physical activity (PA) and lower sedentary time (ST) for reducing mortality risk in older women, regardless of [their] genetic predisposition for longevity, the researchers wrote.

Their prospective study was recently published in the Journal of Aging and Physical Activity.

From 2012 to 2020, the UC San Diego researchers analyzed data on the physical activity of more than 5,000 ambulatory women ages 63 and older.

Lead author Alexander Posis, MPH, a doctoral student in the San Diego State University/UC San Diego Joint Doctoral Program in Public Health, explained the significance of the OPACH study to Medical News Today:

Our study used pre-existing data from the Objective Physical Activity and Cardiovascular Health (OPACH) study, which is part of the Womens Health Initiative (WHI) that started in the early 1990s because women had not been included in many epidemiologic studies and clinical trials.

Alexander Posis, MPH, lead author of the study

The OPACH study focused on associations between physical activity, cardiovascular disease, and injury risks. The data generated allowed researchers to look at physical activity and the risk of mortality, cancers, cognitive decline, and physical disability as well.

Other research using the OPACH study found associations with physical activity (PA), sedentary time (ST), and mortality during an average follow-up of 3 years. However, no one had explored any possible genetic influence on these associations.

The UC San Diego study aimed to use a follow-up of 6 years and adjust the results with a weighted genetic risk score (GRS) for longevity.

OPACH participants wore an accelerometer 24 hours per day for 7 consecutive days.

The device measured the amount of time the women spent moving or being still and the intensity of any activity.

The researchers defined total PA as movement resulting in energy expenditure. They categorized PA intensity and ST minutes using predetermined cut points applied to the accelerometer counts.

Genome-wide association studies (GWAS) have linked multiple single-nucleotide polymorphisms (SNPs), or genetic variants, to longevity.

The UC San Diego cohort developed a weighted GRS based on three SNPs strongly associated with long life. This metric compared survival to age 90 versus death before age 90.

Covariates, or characteristics among the studys participants, included age, education level, body mass index (BMI), self-reported health status, and other details. Participants race was also a factor but was limited to white, Black, and Hispanic ethnicities.

The study also analyzed chronic conditions present before or after participation, including cancer, depression, frequent falls, and cardiovascular disease.

Of the 5,446 women in the present studys sample, 1,022 passed away during follow-up.

The authors determined that 36% of the total population had a high GRS, 33.1% had a medium GRS, and 30.9% had a low GRS for longevity.

The researchers firstly found that physical activity, of light or moderate-to-vigorous intensity, was associated with a lower risk of death while higher ST was associated with a higher risk of death. Interestingly, these associations persisted regardless of ones genetic predisposition for longevity.

Interestingly, the low-GRS individuals were younger, more active, and had higher physical functioning scores than the other GRS groups. Those with low GRS were also more likely to be of Black race/ethnicity than the medium and high GRS groups.

Our study showed that, even if you arent likely to live long based on your genes, you can still extend your lifespan by engaging in positive lifestyle behaviors such as regular exercise and sitting less, Aladdin H. Shadyab, PhD, the studys senior author and assistant professor at the Herbert Wertheim School of Public Health and Human Longevity Science, said in a news release.

Historically, women have been significantly underrepresented in clinical trials. Using data from the OPACH study was a step forward in inclusive research.

However, the resulting lack of male participation created a limitation on the UC San Diego studys findings.

Based on the design of our study, we were not able to make any inferences on men. But we hope that future studies will examine these associations in study cohorts that include men as well as those in younger age groups, Posis told MNT.

Dr. Scott Kaiser, a geriatrician and director of Geriatric Cognitive Health for the Pacific Neuroscience Institute at Providence Saint Johns Health Center in Santa Monica, CA, told MNT the work is a well-done study [ with] a lot of great data. However, he cautioned that the current study is an association study and not designed to prove causality.

I think this just supports an increasing amount of evidence that our genes are not our destiny [] It shows that there is a stronger association between longevity with physical activity than [with] genetics, Dr. Kaiser said.

Noting that the present study focused on only certain markers of longevity, Dr. Kaiser added that researchers need to determine other such factors. For instance, he said that the SNPs used to calculate the GRS were more common among people of European ancestry.

Dr. Kaiser said the term sedentary time might not be appropriate. It does not account for people who are unable to walk but can still engage in other physical activities such as chair exercises.

Its whether you just have some consistent physical activity versus somebody whos overall physically inactive, he said.

Dr. Kaiser hopes the public will understand that genetics do not trump a healthy lifestyle for reducing disease and mortality risk.

When it comes to healthy aging, exercise is about the closest thing we have to a miracle drug, he said.

The whole take of this [study] is that even if you could go to your doctor and get a fancy genetic test to see whether or not you have markers of longevity, it doesnt matter as much as whether you get up off the couch and exercise on a regular basis.

Dr. Scott Kaiser, geriatrician and director of Geriatric Cognitive Health for the Pacific Neuroscience Institute in Santa Monica, CA

See the article here:
Regular exercise may help women live longer, regardless of their genes - Medical News Today

Recommendation and review posted by Bethany Smith

In my previous article on a similar subject, The Whitaker Family: Horrors of Inbreeding, readers traveled through the horrors of inbreeding. As we talked about how inbred children are at a higher risk of recessive genetic disorders, lets continue the discussion with another popular term, the Habsburg Jaw, which scientists have confirmed is the result of royal inbreeding.

When someone wrote to me that the British Royal Family does not own the patent of inbreeding, I decided to write about Habsburg Jaw, which directly relates to the Habsburgs, one of the most prominent dynasties which ruled a vast European empire for centuries.

Before understanding the Habsburg Jaw, let us turn the pages of history to understand the Habsburgs, who as rulers, archdukes and emperors, did everything in and beyond their powers to keep a tight grip on the empire they ruled. The Habsburg, also known as the House of Austria, ruled Austria from 1282 until 1918. Apart from this, they controlled Hungary and Bohemia from 1526-1918; Spain and the Spanish empire for more than two centuries from 1504-1506 and 1516-1700.

The Habsburgs are also remembered for ruling Slovenia, Slovakia and Croatia, as well as vast parts of Poland, Romania and Italy. If you dont know this, the Habsburgs actually began to rise to power in 1273 as Rudolf I became the German King. Now, as a lover of history, youd remember that Ottokar II Premysl of Bohemia refused to recognize him as a king and the same sparked a major royal beef.

Ottokar managed to become the king of Austria but as he was killed in battle, Rudolf stepped in and granted the land to his sons. That was it, the Habsburgs were unstoppable since that day in history as they spent the next century in empire-building. The family was lifted to A-list Royal status when future emperor Maxmilian married Charles the Bolds daughter Mary and gained control over the Burgundy region.

Now, if we speak of the Habsburg royal clam, it included names like reformer Joseph I; Leopold Wilhelm (emperor, bishop and patron of arts); Rudolf II (Pragues promoter of science and art), Charles VI (Spains ruler who was succeeded by his daughter). This era gave a rise to striking similarities

The Habsburgs came into their full regal power in the 1600s and enjoyed its fruits through the early 1700s. TheHabsburg royal clan included Leopold Wilhelm, an emperor, bishop and patron of the arts; reformer Joseph I whose motto was by love and fear; Charles VI who ruled Spain and set up his daughter to take the crown; and Rudolf II, who decided to live in Prague, where he promoted science and art.

It was during this era that gave rise to a striking similarity in the jawline of the royal members of the Habsburg family, which came to be known as the Habsburg Jaw. Researchers revealed a stark reality that generations of inbreeding among the Habsburgs resulted in Habsburg Jaw, which ultimately caused their downfall.

The best example is that of Charles II, the final male heir, who became physically incapable of having children, and the reasons were plain and simple! The Habsburgs royal familys genetic line progressively deteriorated due to the excessive incest among them. The Habsburg Jaw was more prominent in males than females.

However, Mariana of Austria (Queen of Spain) remains a disturbing yet perfect example of the Habsburg Jaw. Apart from this, one of the most famous Habsburg members, Marie Antoinette of France too could not dodge the Habsburg jaw. She had a projected lower lip which made her look as if she was always pouting.

In the greed to remain Europes most powerful royal family, marriages between biological relatives became a common affair in the ruling houses of Europe. For instance, the Spanish Habsburgs dangerously engaged in incest despite its terrifying consequences. Youd be shocked to know that nine out of the 11 marriages in this family during their 184 years of rule in Spain (1516 to 1700) were incestuous in nature.

To quote famous examples, Charles 1 of Spain and Joseph I were both infamously known for having extremely prominent lower jaws. So what was the consequence? How did they get it? Why were stark similarities amongst the members? The plain and simple answer to the latter is incest. Such revelations were made in the 1988 article Journal of Medical Genetics, which stated that nine successive generations of the Habsburg family were found having this jawline, which came to be commonly known as the Habsburg jaw.

The article reported that at least three generations of this family had similar facial characteristics, called mandibular prognathism, which is a medical term for this kind of jaw. In this condition, the jaw moves so forward that it causes an extreme underbite as the teeth dont line up as they should in a normal human body. They also suffered from the thickened lower lip, misshapen nose, everted lower eyelids and flat malar areas.

The article narrated that this came as a result of constant incestuous relationships in the family and also gave rise to Mandibular Deficiency. The term was described as a pattern of abnormalities, including skeletal, neuromuscular, occlusal and esthetic conditions that can affect a persons speech and ability to eat.

Apart from this, the Habsburgs suffered from numerous ailments like dropsy, asthma, epilepsy, gout, and melancholia. Many accounts reveal that the Habsburg jaw originated among the Polish royals and it was Maximilian 1 (King Of Rome from 1486 and the Holy Roman Empire from 1508 until his death), who was found with this jaw.

For a very long time, there was no research to back the fact that the Habsburg jaw was a result of excessive inbreeding. However, Francisco Ceballos, a geneticist came up with mind-boggling research as the continued to study the facial deformities in 66 portraits of 11 Habsburg family members.

The researchers implemented statistical methods to analyze the effects of inbreeding on the degree of Mandibular Porganathism and Maxillary Deficiency. They found out that the two traits share a common genetic basis. Ceballos stated the following:

The Aha! moment was when we discovered that the MD is affected indeed by inbreeding, and that the Habsburg face is indeed related to their consanguinity. This is the first time that science backs up this statement

Their research revealed that facial deformities, as well as mental illness, are rooted deep in the Habsburg family. So how does inbreeding affect generations? The study revealed that mating between relatives increases the odds of inheriting identical forms of a gene from both parents called genetic homozygosity. This reduces an individuals health.

The best example of such a case is Charles V, who suffered from at least two conditions resulting from recessive mutations in different genes: pituitary hormone deficiency; which can result in infertility; and distal renal tubular acidosis; which causes kidney failure. The Habsburg family basically serves as a complete human laboratory for most researchers on the subject because the range of inbreeding among them was extremely high.

The latest research on the Habsburg family includes a December 2019 paper from Professor Vilas from the University of Santiago de Compostela. Per his research, the Habsburg dynasty was the most influential in Europe but was more famous for inbreeding which caused its downfall. The paper made an alarming conclusion that there is a crystal clear positive relationship between Habsburg Jaw and Inbreeding.

Various scientists and doctors have established that inbreeding leaves the offspring at a greater risk of congenital defects and genetic diseases. Check out this video to understand more about inbreeding.

While it may be true that marrying among relatives may have helped the Habsburgs seize power for a longer time, recessive genes became a reason for the downfall of their empire. Not only this, but inbreeding passed a series of genes that produced birth defects. The Habsburg dynasty came to an end with Charles II, who struggled to eat and speak due to his prolonged lower jaw. He was mocked as the most inbred king of all.

Not only this, but Charles II was short, impotent, weak, mentally handicapped and suffered from numerous intestinal problems. As a child, he could not speak until he turned 4. His feeble mind and physically deformity resulted from a limited gene pool. One French Ambassador wrote about him The Catholic King is so ugly as to cause fear and he looks ill. This was the time when a word was sent for his marriage.

Alexander Stanhope, an 18th-century British envoy wrote about Charles II in his book Spain Under Charles The Second, that he has a ravenous stomach and swallows all he eats whole, for his nether jaw stands so much out, that his two rows of teeth cannot meet; to compensate which, he has a prodigious wide throat so that a gizzard or liver of a hen passes down whole, and his weak stomach not being able to digest it, he voids in the same manner.

As an inbred, Charles II could not have children and many researchers speculated that he may also have been impotent. The last king of the Habsburg dynasty died in 1700 at the age of 38 years. This was the horrific end of a royal who was accumulating two centuries of harmful traits passed down to a single body.

See the article here:
Habsburg Jaw: The Horrific Consequences of 'Royal Inbreeding' in Europe - TheTealMango

Recommendation and review posted by Bethany Smith

For those who have problems maintaining an erection during sexual activity, there is Alpha Beast XL, a potent male enhancement. It will enhance your libido and produce a more pleasurable experience during sex.

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The official Alpha Beast website claims that the supplement is made up of more than 30 all-natural components. Due to their aphrodisiac qualities, they were sourced from all over the globe.

Also, the Alpha Beast XL recipe doesn't include any chemicals. And unlike with Viagra, one's physical health won't suffer. For males who don't want to take medications with potential side effects, this is a viable alternative. The production of Alpha Beast XL occurs in the United States in accordance with Good Manufacturing Practices.

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Men with weak erections can use Alpha Beast XL. It has a potent combination of over thirty non-GMO substances.

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Pygeum bark is often used to reduce the size of an enlarged prostate. It is possible for men over the age of 50 to suffer from this problem, and the resultant decrease in blood flow to the vaginal area might contribute to erectile dysfunction.

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Although it is well accepted that low testosterone levels are not the primary cause of erectile dysfunction (ED), there are still a few prerequisites that must be addressed before an erection may be achieved. Taking care of the heart ensures that blood circulates properly throughout the body, including the penile tissues.

If the heart isn't sending blood to the corpora cavernosa, there will be no erection. It's also important that the blood be clean and uncontaminated. Having functioning kidneys is a key factor in reaching this goal.

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This feature enables users to recuperate in bed and spend more time in the snooze chair.

Improves sexual performance

Increased blood flow increases penis size during erection.

It has the potential to improve circulation system-wide.

The user's self-esteem in the bedroom may be restored.

Both the kidneys and heart will benefit to some extent from this.

Negatives

If ED stems from psychological factors, the formula won't assist.

It's important for men to talk to their doctors before starting any new supplement, especially if they are using prescription medication.

Instructions for Using Alpha Beast XL

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But before that can happen, individuals must get an understanding of how their erectile system operates.

To start, the vessels loosen up and make it easier for blood to flow through them. When these cells swell, blood that reaches the corpora cavernosa becomes trapped there, giving rise to an erection.

But there are several prerequisites that must be satisfied before that may happen.

The first step is to ensure a healthy circulation of blood. Of course, it can only happen if the cardiovascular system is in tip-top shape.

The next condition is optimal cardiac health. To provide a stress-free genitourinary system, it must efficiently transport blood to all parts of the body.

And last, the blood itself must be of the highest quality with nothing tainting it; only healthy kidneys can do it.

After all, the brain is the seat of all beliefs. Therefore keeping it in excellent shape is crucial to maintaining an erection. This one has the potential to cause some confusion.

Healthy diet

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Maintaining a healthy body is the first step, so try to avoid processed and fatty meals as much as possible.

Improved blood flow

A healthy lifestyle includes a lot of water, avoiding harmful substances like alcohol and drugs, and eating balanced food.

The greatest approach to maintaining the kidneys in tip-top shape, allowing them to better cleanse the blood traveling to the corpora cavernosa, is to drink enough water, as everyone knows. That way, not only will men have greater stamina and energy, but their erections will be more robust as well.

Clear Brain

Having a positive mental attitude may appear counterintuitive, but it really helps one think more clearly and act swiftly when the time is right.

This will make it more susceptible to erection-inducing stimuli.

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Routine physical activity

Daily exercise for at least 30 minutes is the key to developing the endurance and strength of a stallion in bed.

Exercises like Kegels and Pilates may work wonders since they increase blood flow to the pelvic region, which in turn promotes hard, lengthy erections.

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Alpha Beast XL will help users have more satisfying sexual encounters. It promises to improve sexual health. If men have trouble with erectile functions and cannot take prescription medication because of the various medical concerns associated with it, they should try taking the Alpha Beast XL male enhancement pill instead. But it should be noted that Alpha Beast XL is not a miracle pill. It has to be taken regularly for results.

If me use the supplement as suggested every day, they should start seeing effects in a matter of weeks. The official website sells Alpha Beast XL. This supplement comes with a risk free refund guarantee, which sweetens the deal.

Go here to read the rest:
Alpha Beast XL Reviews (USA & Canada): Is It Legitimate Or Scammer? Shocking Ingredients Alert! - Deccan Herald

Recommendation and review posted by Bethany Smith

Mortality has always been on Perry Jones mind, much more so than your average 20-something. Shes dealt with a number of challenging health conditions since her teens, so when her mother urged her to be screened for the BRCA1 variant and BRCA2 variant gene a couple of years ago (both of which indicate a high risk of breast and ovarian cancer) she didnt exactly jump at the chance.

Jones, who has type 1 diabetes, coeliac disease and spinal development issues, speaks about her dealings with the health system in the world-weary way of someone whos been in and out of waiting rooms her whole life.

Ive got the whole wazoo. So a part of me was like, Whats the likelihood that Im going to have another thing? Itll be fine. Theres no point.

But Jones mother insisted. After all, shed been diagnosed with breast cancer at the age of 40. Mum said its better to know than not to know. And if we know, then we can warn others in our family and we can look into better treatment methods for ourselves in future.

Eventually, Jones agreed to take the saliva test. And then I forgot about it. So when I did get that phone call, to tell me I had the (BRCA1) gene, I was like, Oh, youve got to be kidding me.

Jones results have the potential to save her life, but they have also irrevocably informed the way she views and plans for her future, regardless of whether she ever receives an eventual diagnosis. As technological advancements and decreasing costs make testing accessible to broader swathes of the population, what does it mean to know the risk embedded within our DNA?

Last month, Monash University launched DNA Screen, offering 10,000 people aged 18 to 40 secure, free DNA testing to identify risk of cancer and heart disease that can be prevented or treated early.

The study is a chance to gauge the public appetite for preventive genetic testing (as opposed to the current status quo of clinical criteria-based testing) and could help Australia become the first country to offer preventive DNA screening through a public healthcare system.

The appetite from people in this age bracket was overwhelming. The DNA Screen team initially aimed to contact young people across social media to spread the word. Instead, without social media promotion, the website reached their target of registering 10,000 people to do the at-home saliva tests in 24 hours.

The interest is enormous, says Jane Tiller, co-lead of the project and ethical, legal and social adviser for Public Health Genomics at Monash.

DNA Screen, which is partly funded by the federal government, is attempting to pilot and demonstrate the value of population-level screening in an effort to provide greater access to genomics for everyone, similar to the mass bowel and breast cancer screening the government already funds for older Australians. Historically, the costs of genetic testing have been prohibitive, which meant it was only available to people with a family or personal history of disease, but up to 90% of people at high risk are not identified by current family history-based testing.

Although there are many genes that could be studied, the researchers picked 10 gene variants because the conditions they can lead to are medically actionable and there are already preventive measures for them hereditary ovarian and breast cancer, Lynch syndrome and familial hypercholesterolaemia (which increases the likelihood of having coronary heart disease at a younger age).

Those found to be at high risk after DNA testing expected to be about one in 75 will have their situation explained by experts and be offered genetic counselling and prevention measures, such as regular scans and check-ups. Given the stats, roughly 130 people from the study are likely to be found to be high risk. But what does it mean to scale up genetic screening and introduce mass preventive testing into any health system?

Bringing genetic screening into public health has huge promise if we use it wisely, says Prof Ainsley Newson, professor of bioethics at the University of Sydney. But there are questions to consider. For health problems where there isnt a good way to find and diagnose people, can genetics help? If a gene test exists, is it reliable in diverse populations? Does it only detect what we want to know, and nothing else? Is the health system ready to support those who are identified as at higher risk? Is there something people can do with the information it generates, and is there evidence that they will take that action?

Tiller and her co-leads have considered those same questions. If we were to test the whole of Australia tomorrow that would likely identify a number of people that may start to create a strain on a service that may not be resourced to deal with that many people, she says.

But we cant pretend that just not screening is the answer to protect the resources of the health system, because people who are at risk and develop cancer and need care will eventually need that system. And its far better to front-load your preventive care and keep people healthy and well.

The response for the DNA Screen study indicates there is widespread demand for this information beyond people such as Jones with family histories. It is powerful and heavy knowledge. Who seeks this information out?

Its a mix of people who are very big on preventive health who see that connection between finding out information now and being able to do something about it and then people who are just curious, says Tiller. Weve seen a huge increase in ancestry testing in recent years and people being interested to see whats in their genes.

Therell always be people who say, Im not interested in that. I would be too worried. I wouldnt want to know. And thats completely a personal choice.

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Communicating what the results could mean is a vital first step. Tiller says they want to ensure people understand that finding a gene is not a diagnosis of a condition and that not finding a gene doesnt mean they wont ever get cancer or heart disease.

This isnt about fear-mongering we really want to say to people, If you would like to know about this, this can empower you to take preventive steps for your own health.

So what does it mean for a young person to take on that information, to shape their hypothetical future with knowledge that wasnt available to any of us just a few years ago?

For the one in 75 people who are found to be high risk, it can of course be distressing, says Tiller. Theres a lot of support thats required in the initial stages of giving people that information, giving them space to perhaps feel some distress, to grieve over what that might mean for them and to support them through the next steps of decision-making.

Every person reacts differently to what their results could mean for them and their family. For Jones, her results have meant a cascading series of future choices and consequences, all of which are hypothetical at this stage.

Protective surgery such as a double mastectomy was initially suggested, which Jones has thus far resisted. She was also told that she should consider having her ovaries removed as soon as possible. So that changed my view of my timeline for starting a family.

Jones is also acutely aware she could pass the gene on to future children. Shes single and is studying a bachelor of design that she loves. Shed like to travel after graduation, maybe land an internship, meet someone nice.

But concurrently, at the age of 28, she has already weighed up scenarios such as freezing her eggs (shes opted not to thus far); considered what shed do if an embryo tested positive for the variant (she would abort), considered the financial implications of IVF (shed rather conceive naturally, especially given she needs to save a deposit for a house); weighed up how shell tell a future partner about her genetic risk (shed be upfront); and worried about menopause and what it means for removing her ovaries (Im actually more worried about that than the cancer at the moment to be honest). Those possibilities are a lot to deal with, she says. Shes banking on her future self, future and more mature Perry, to be able to handle them.

The knowledge she carries with her doesnt keep me up every night, but its definitely something ticking away in the back of my mind.

But despite all these considerations, Jones is grateful for the opportunity to be tested.

Having the test gave me a sense of control, even if I cant control whether or not I develop cancer. Im in control of knowing about it. I know the risks and I know what steps I can take to capture it as soon as possible if it develops.

Two years on from receiving her results, Jones is philosophical about living with what she knows. Shes much more vigilant and shes made peace with having to endure extra tests.

She also reminds herself that theres a chance that she may never be diagnosed. I guess I just accept that its part and parcel of the body that allows me to live. So whatever it comes with, Im just going to have to deal with. And as much as I dont like carrying these genes, its better to be alive and have them than not at all. So Im still thankful for this meat cage that contains my consciousness.

See the original post here:
Ticking away in the back of my mind: what does it mean to know the risk embedded in your DNA? - The Guardian

Recommendation and review posted by Bethany Smith

The largest RNA study ever conducted in hereditary cancer analyzed more than 43,000 patients who received Ambrys +RNAinsight testing and found that 1 in 950 had an elusive clinically actionable result that would have been missed by DNA-only testing.

Combined DNA and RNA testing identified cancer risk in an additional 1 out of 79 patients compared to DNA-only testing.

ALISO VIEJO, Calif., August 29, 2022--(BUSINESS WIRE)--Ambry Genetics, a leader in clinical diagnostic testing and a subsidiary of REALM IDx, Inc., announced today the findings of a study that showed paired RNA and DNA genetic testing, conducted at the same time, detected elusive pathogenic variants in 1 of every 950 patients that were missed by DNA testing alone. The findings, published in npj Genomic Medicine, highlight the importance of combining RNA and DNA analysis in hereditary cancer testing to give clinicians and their patients the most accurate and comprehensive genetic data needed to inform patient care and achieve the best outcomes.

According to the National Library of Medicine, as of August 2017, there were approximately 75,000 genetic tests on the market, representing 10,000 unique test types. Unfortunately, many of these DNA-only tests exclude large portions of DNA such as introns, a sequence of DNA that is spliced out before an RNA molecule is translated into a protein. In addition to omitting large portions of introns, DNA-only testing lacks the functional context to determine whether a variant increases cancer risk, which can lead to inconclusive results. These limitations may prevent patients and their families from getting accurate results to inform their preventative or therapeutic care.

Concurrent RNA and DNA testing helps identify more patients at risk by determining if an uncertain result from DNA testing is normal or disease-causing, and expands the range of genetic testing to identify mutations that DNA-only testing misses.

"With our +RNAinsight test we were the first company to offer upfront paired DNA and RNA sequencing to give clinicians and their patients the most accurate and comprehensive information about their cancer risk," said Tom Schoenherr, CEO, Ambry Genetics. "This study confirms that conducting RNA and DNA testing together is critical to help identify high-risk individuals who would have been missed by DNA-only testing."

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Previously, published evidence of the value of RNA sequencing has been limited by studies with small sample sizes and enriched cohorts. This study by Ambry is the largest to examine the impact of paired DNA and RNA analysis in hereditary cancer testing. In the study, tests from 43,524 patients who underwent paired DNA-RNA genetic testing using Ambrys +RNAinsight from March 2019 through April 2020 were examined to determine if the paired sequencing detected more pathogenic variants than DNA testing alone. The analysis identified patients who had disease-causing alterations that DNA testing alone would have misinterpreted. Examining the RNA data resolved variant findings in 549 patients (1 in 79 patients) by providing the required functional data for more accurate interpretation of splicing variants. In addition, the analysis showed that 1 of every 950 patients had a pathogenic deep intronic variant that would not have appeared in DNA testing alone.

The results from the study may underestimate the total clinical impact because some of the patients families who are now eligible for genetic testing were not tested. In addition, the ripple effect created by these updated results extends to past and future patients. These downstream benefits were not quantified in the current study.

"This is the largest study of its kind to show the importance of RNA testing in predicting cancer risk," said Carrie Horton, senior clinical research specialist for oncology and first author of the study. "Its clear that RNA analysis has the potential to become a standard practice for genetic testing to improve hereditary cancer care."

A webinar, open to the media, genetic counselors, clinicians and other interested parties, will be conducted on Thursday, September 15 at 10 a.m. PT to review the study findings. Registration information is here.

Ambrys +RNAinsight was the first test to provide comprehensive gene coverage for RNA analysis to help classify and detect DNA variants associated with a variety of cancers including breast, ovarian, prostate, colon, pancreatic and uterine. +RNAinsight enables more accurate identification of patients with increased genetic risks for cancer, finds actionable results that may otherwise be missed and decreases the frequency of inconclusive results.

About Ambry Genetics

Ambry Genetics, a subsidiary of REALM IDx, Inc., translates scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease. It is a leader in genetic testing that aims to improve health by understanding the relationship between genetics and disease. Its unparalleled track record of discoveries over 20 years, and growing database that continues to expand in collaboration with academic, corporate and pharmaceutical partners, means Ambry Genetics is first to market with innovative products and comprehensive analysis that enable clinicians to confidently inform patient health decisions.

View source version on businesswire.com: https://www.businesswire.com/news/home/20220829005605/en/

Contacts

Media Contact

Brad LottermanCommunications DirectorREALM IDx949-401-0465blotterman@realmidx.com

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Ambry Genetics Publishes 43,000 Patient Study Showing Combined RNA and DNA Analysis Identifies Patients Who Are High-Risk for Cancer but Would Have...

Recommendation and review posted by Bethany Smith

A teenage boy with Angelman syndrome, whose developmental differences were less substantial than those typically seen with the condition, was found to have genetic mosaicism meaning some but not all of his cells harbored an Angelman-causing mutation according to a case report.

The diagnosis followed detailed genetic analyses done after the 16-year-old was referred to a developmental behavioral pediatrician for evaluation.

Like others found to have mosaic Angelman syndrome, this patient had been thought likely to have another rare genetic disorder, given that the phenotype, or disease characteristics, were not a typical match, the researchers noted.

A broader phenotypic spectrum should be considered for [Angelman syndrome] as patients with atypical presentations may otherwise elude diagnosis, the team wrote.

The study, Atypical presentation of Angelman syndrome with intact expressive language due to low-level mosaicism, was published inMolecular Genetics & Genomic Medicine.

The teens case was reported by a team of U.S. researchers.

As a newborn, the boy had exhibited low muscle tone, but he had not had any problems feeding and had hit motor milestones normally. His walking ability remains normal now, though he continues to have low muscle tone and is easily fatigued with physical activity to the point that he is not able to jump or run, the researchers wrote.

The boy has never had a seizure, but he has a lifelong history of digestive upset and chronic diarrhea, which are Angelman symptoms. As a toddler he began exhibiting hyperphagia an excessive hunger that is not eased by eating and he was clinically classified as obese by age 7.

As he grew, the boys language development was markedly delayed, but not completely absent as is often the case in Angelman. While the boy never babbled like most babies do, he used sign language and a picture-based communication system to express himself in early childhood.

He first began speaking words at age seven, and currently communicates mainly through words. The researchers report that he usually speaks in short sentences just a few words long, and that he is able to ask and answer questions and follow short instructions.

Based on testing done early in childhood, the boy was broadly diagnosed with intellectual disability and adaptive impairments. He has also been diagnosed with anxiety, ADHD, and sleep difficulties. He is in school and receives special education services.

Overall, this clinical picture is not what is typical of Angelman syndrome. Indeed, most Angelman patients show much more pronounced developmental differences, with little to no verbal communication ability and usually seizures.

Given his history of hypotonia in infancy, obesity, hyperphagia, mildmoderate intellectual disability, intelligible speech, normal gait, and lack of seizures, classic [Angelman syndrome] did not match the patients phenotype, the researchers wrote.

The patient was initially suspected to have Prader-Willi syndrome (PWS), a genetic disorder usually characterized by hyperphagia and developmental differences.

PWS is caused by mutations in the paternal copy of theUBE3Agene that is, the copy of this gene inherited from a persons biological father. Angelman syndrome is also caused by UBE3A mutations, but specifically those affecting the copy inherited from the biological mother, called the maternal copy.

Genetic testing of theUBE3A gene showed no abnormalities in the paternal copy, but mutations indicating Angelman syndrome were identified for the maternal copy.

More detailed analyses showed that genetic testing of the maternal copy yielded two results simultaneously: the strongest signal indicated a normal, non-mutated gene, while a weaker signal suggested absence of the maternal copy, indicative of either uniparental disomy or an imprinting error.

Based on this finding, the researchers concluded that the boy has genetic mosaicism meaning that some cells in his body harbor the Angelman-causing mutation while other cells in his body dont, making a mosaic of cells with and without the mutation throughout his body.

Our patient fits the clinical characteristics of mosaic AS [Angelman syndrome] with his strong expressive language skills and mildmoderate intellectual disability, instead of the phenotype of classic AS, the researchers wrote.

Noting that other cases of mosaic Angelman have been reported in the past, the team said that this case highlights the importance of considering a broader phenotypic spectrum for AS during a genetic evaluation.

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Genetic Mosaicism Diagnosed in Case of Atypical Angelman Teen |... - Angelman Syndrome News

Recommendation and review posted by Bethany Smith

As the feasibility of phase 1 clinical trials for prenatal spinal muscular atrophy (SMA) therapies is explored, patient and parent input on prenatal testing and possibly treatment is a valuable tool for guiding research discussions.

Rapid diagnosis and treatment are crucial for infants affected by spinal muscular atrophy (SMA), and with the advent of genetic testing, neonatal and even prenatal diagnosis has become possible. Parent and patient perspectives are important as prenatal diagnosis and treatment become increasingly feasible, and a recent study published in Prenatal Diagnosis found that many parents and adult patients affected by SMA view fetal testing and therapies in a positive light.

SMA is a rare genetic neurodegenerative disorder caused by mutations of the survival motor neuron 1 (SMN1)gene that inhibit SMN protein production. This leads to varying degrees of muscle weakness and atrophy, with symptoms of the most severe form of SMA, type 0, manifesting before birth.

Patients with type 0 SMA typically do not survive longer than 1 month after birth. Infants with type 1 SMA, which affects approximately 50% of SMA patients overall, typically show signs prior to 6 months of age and do not survive longer than 2 years. Patients with SMA type 2 typically survive into adulthood but are never ambulatory; those with type 3 show symptoms after 18 months and may walk independently but eventually require a wheelchair; and those with type 4 SMA develop proximal weakness in adulthood but remain ambulatory.

In recent years, several therapy options that can improve survival, reduce the need for ventilation, and facilitate better motor function and milestones for patients with SMA have become available. But these treatments hinge on early initiation to inhibit irreversible motor neuron damage and deliver maximal benefits. Therefore, diagnosing the most severe forms at birth or even prior to birth could improve outcomes for patients.

As the possibility of prenatal therapies emerges, it is also important to assess whether this populations historical interest in previous novel approaches also portends an interest in prenatal clinical trials, the authors wrote. Gathering stakeholder views can help inform conversations with regulatory authorities regarding trials for fetal therapies, and importantly, provide direction for future trials in considering their primary beneficiaries priorities and needs.

The study included 114 participants46 parents and 68 patientswho filled out a questionnaire designed by a multidisciplinary team and distributed by Care SMA. Most of the respondents were affected by types 2 and 3 SMA, and only 2 parents had received a prenatal diagnosis for their children. The median age at diagnosis was 15 months for patients who were diagnosed after birth. Of the patients, 63.3% received the antisense oligonucleotide nusinersen, 28.3% received gene therapy with zolgensma, and 14.7% received risdiplam or branaplan small molecule therapy.

Of the respondents who were affected by type 0 or 1 SMA, 80% strongly supported fetal testing and diagnosis, compared with 71.4% of respondents affected by SMA type 2 or 3. The majority of patients with SMA type 0 or 1 (77%) felt that their diagnoses were delayed, and 85% of those affected by SMA type 2 or 3 felt there had been a delay in their diagnoses.

Overall, 55% of respondents indicated that they would likely enroll in a phase 1 clinical trial for fetal antisense oligonucleotide therapy. Older respondents and those who felt their diagnosis was delayed were more likely to want to enroll in trials. If fetal antisense oligonucleotide or small molecule treatment becomes an established therapy, 78.9% of respondents would be likely to choose this route. Those who felt their diagnosis was delayed were more likely to choose a fetal therapy once they are established. Where fetal gene therapy is concerned, 61.1% of respondents overall indicated that they would be interested in enrolling in a phase 1 trial.

The survey results suggest that many patients affected by SMA and their parents have a positive attitude toward prenatal testing for SMA, and many would be interested in phase 1 trials of fetal therapies for SMA. This was especially true for respondents affected by more severe phenotypes of SMA. Respondents were even more likely to be interested if the therapies in question become established courses of treatment.

As the feasibility of phase 1 clinical trials for prenatal SMA therapies is explored, patient and parent input on relevant hypothetical situations is a valuable tool for guiding discussions. This is the first stakeholder survey involving prenatal SMA testing and therapy to the authors knowledge, and the results provide insight into how those most affected by SMA view fetal testing and potential prenatal therapies for SMA. In the future, further research can help determine the social factors that play into patients views on prenatal testing, trials, and therapies.

Reference

Schwab ME, Shao S, Zhang L, et al. Investigating attitudes towards prenatal diagnosis and fetal therapy for spinal muscular atrophy (SMA). Prenat Diagn. Published online August 27, 2022. doi:10.1002/pd.6228

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Patients and Parents Impacted by SMA May Be Optimistic About Prenatal Testing, Therapies - AJMC.com Managed Markets Network

Recommendation and review posted by Bethany Smith

The Pillars of Biopsychiatry

In a widely discussed July, 2022 analysis, psychiatrists Joanna Moncrieff, Mark Horowitz and colleagues reviewed numerous studies and found no consistent evidence of there being an association between [the neurotransmitter] serotonin and depression, and no support for the hypothesis that depression is caused by lowered serotonin activity or concentrations.

The response by supporters of mainstream psychiatry was at times marked by personal attack and distortion, and other times by statements from academic psychiatrists that Moncrieff et al. found nothing new, and that psychiatry has known for many years that serotonin levels are not associated with depression. Yet as Robert Whitaker showed, psychiatry continued to promote the serotonin chemical imbalance story after knowing it was wrong, and pharmaceutical companies, and academic psychiatriststold us a story that their own research had shown to be false, and they did so because it benefitted guild interests and the financial interests of pharmaceutical companies.

If psychiatrys serotonin and chemical imbalance pillars are now crumbling, the genetic predisposition (heritability) pillar remains in placefor now. In this article I review the evidence that psychiatry ceaselessly puts forward in support of the heritability of major depression (hereafter, MD). I will first describe MD genetic studies based on families, twins, and adoptees, and then finish with a more detailed critical evaluation of MD molecular genetic studies, which have failed to discover genes shown to cause MD. The genetics of depression story I will tell differs fundamentally from the story told in most textbooks, academic review articles, popular media accounts, and online sources.

The American Psychiatric Association sees MD as a genetically based serious medical illness, for which brain chemistry may contribute. Critics have challenged these claims, and some have questioned the validity and reliability of the MD diagnosis itself. Inter-rater reliability refers to the ability of psychiatrists to agree on a diagnosis. MD reliability is low (inter-rater reliability kappa = .25), and has been decreasing. A diagnosis must be reliable in order to be valid. If MD cannot be reliably identified, it cannot be a valid diagnosis. (Although reliability is a prerequisite for validity, a reliably identified condition must still be validated by other means.) Therefore, research based on a diagnosis of major depressive disorder or a similar condition begins on shaky ground.

Although mainstream outlets and the general public often get this important point wrong, most genetic researchers and their critics are in agreement that the results of MD family studies (depression running in the family) cannot be interpreted genetically, because family members share common environments as well as common genes. MD adoption studies have been carried out in an attempt to separate these influences, but their flaws led top psychiatric genetic researchers Jonathan Flint and Kenneth Kendler to conclude in 2014, Surprisingly, no high-quality adoption study of MD has been performed, so our evidence of the role of genetic factors in its etiology comes solely from twin studies.

A subsequent 2018 MD adoption study by Kendler and colleagues, based on Swedish adoptees and families, was subject to the problems and potential confounds that characterize psychiatric adoption research. These problem areas include adoption agencies typically selective and non-random adoption placements, late separation, late placement, range restriction and the screening of adoptive families for psychological and financial stability, and shared prenatal environment. It is likely that some adopted children experienced attachment-rupture trauma, emotional suffering, loneliness and neglect, and other adverse childhood conditions that can lead to psychological problems later in life.

Kendler and colleagues 2018 adoption study was based on the records of over 14,000 adult adoptees obtained from Swedish population registers. Children were placed in their adoptive homes up to five years of age (late placement, probable late separation). Diagnoses were taken from hospital and medical records found through the registers. The researchers concluded, The parent-offspring resemblance for treated MD arises from genetic factors and rearing experiences to an approximately equal extent. They calculated a modest 16% MD heritability estimate. However, the studys MD rate among adoptees was 50% higher than among people who grew up in intact families (15.6% vs. 10.2%), meaning that adoptees and non-adoptees constituted distinct populations in relation to MD. It follows that the studys findings cannot be applied (generalized) to people who grew up in intact families. Due to the above-mentioned problems related to both the Kendler study and psychiatric adoption studies in general (including the reliability/validity issue), like the earlier investigations the 2018 Kendler et al. adoption study results cannot be interpreted genetically.

If a genetic theory of behavior depends on twin study data, the theory is in serious trouble. Based on twin study results, biopsychiatry estimates MD heritability in the 30%-40% range. (I make a distinction between psychiatry and biopsychiatry, while being aware that biological and genetic approaches currently dominate psychiatry. The psychiatric genetics field is a major component of biopsychiatry.) Genetic theories in psychiatry are based on studies using reared-together twin pairs. Other than anecdotal reports on individual pairs, there are no reared-apart twin studies in psychiatry, even though psychiatric texts at times say that there are.

Psychiatric twin studies use the classical twin method, which compares the concordance rates or behavioral correlations of reared-together MZ (monozygotic, identical) versus reared-together same-sex DZ pairs (dizygotic, fraternal). MZ pairs are assumed to share 100% of their segregating genes, whereas DZ pairs are assumed to share on average 50%. The results of MD twin studies show that MZ pairs resemble each other more for MD compared with same-sex DZ pairs at a statistically significant level. I will designate this finding rMZ > rDZ (with r representing the behavioral correlation).

All sides of the genetics of depression debate expect a twin study finding of rMZ > rDZ. The main disagreement centers on how this expected-by-all finding should be interpreted.

Genetic interpretations of rMZ > rDZ require acceptance of the long-controversial MZ-DZ equal environment assumption, also known as the EEA. According to the EEA, MZ and same-sex DZ pairs grow up experiencing roughly equal environments, and the only behaviorally relevant factor distinguishing these pairs is their differing degree of genetic relationship to each other (100% vs. an average 50%). This key assumption is obviously false, however, since when compared with same-sex DZ pairs, MZ pairs grow up experiencing

Most modern twin researchers concede the point that MZ environments are more similar. For example, in a 2014 article by criminology twin researcher J. C. Barnes and colleagues, ironically written in defense of twin research, the authors properly recognized, Critics of twin research have correctly pointed out that MZ twins tend to have more environments in common relative to DZ twins, including parental treatmentcloseness with one anotherbelonging to the same peer networksbeing enrolled in the same classesand being dressed similarly.

Despite recognizing that MZ and DZ twin pairs grow up experiencing very different environments, twin researchers have used eight different arguments in support of the EEA. In my forthcoming book Schizophrenia and Genetics: The End of an Illusion (Routledge, 2023), I examine each of these eight arguments and show that none holds up (a partial examination of these arguments can be found here). Because the EEA is false, the results of a psychiatric twin study finding rMZ > rDZ can be explained by non-genetic factors. Decades of studies designed to test the EEA have failed to alter this basic conclusion.

In a 2000 MD review and meta-analysis based on twin study data, leading genetic researchers Patrick Sullivan, Michael C. Neale, and Kendler calculated a 37% MD heritability estimate based on the greater MZ versus DZ resemblance for depression. Sullivan and colleagues sensibly did not claim that MZ and DZ environments are equal, and like most authors of the six depression twin studies they analyzed, they sidestepped the twin methods unequal environments problem by defining the EEA in its trait-relevant form: The critical equal environment assumption, they wrote, posits that monozygotic and dizygotic twins are equally correlated in their exposure to environmental events of etiologic relevance to major depression (emphasis added).

A principle of science, however, is that the burden of proof falls on people making a claim, not on their critics. Therefore, MD twin researchers using this trait-relevant definition of the EEAand not their criticsare required to identify the specific and exclusive trait-relevant environmental factors involved in a diagnosis of major depression. Until this happens, and until they then determine that MZ and DZ pairs were similarly exposed (or not exposed) to these factors, the EEA as conceptualized by Sullivan and colleagues fails completely. Because the EEA is false, MD twin study and twin-study-based meta-analysis results cannot be interpreted genetically.

Biopsychiatry is confronted with another major predicament. It relies on the production and accuracy of heritability estimates (h2) that range from 0% to 100%, but these estimates are based on a string of questionable assumptions. One of these assumptions is the long-disputed idea that genetic and environmental factors are independent from each other (additive) and do not interact. In a 2022 analysis, sociologist NicolasRobette and colleagues examined the assumptions that heritability estimates are based upon, and concluded, None of the hypotheses inherent in heritability estimates are verified in humans. This is a strong statement that, if true, should lead to the abandonment of heritability estimates in psychiatry and other behavioral science fields.

The heritability concept was developed in the 1930s as a tool to help predict the results of selective breeding programs of farm animals, such as milk production in cows. Since the 1960s, h2 has been extended by behavioral researchers and others into a measure of the relative importance of genetic and environmental influences on various psychiatric conditions, and behavioral characteristics such as IQ and personality. Critics generally object to h2 being used in this way, in part because nature and nurture influences interact with each other, meaning that it is not possible to separate and partition these influences. This leads to a rejection of variance explained by descriptions of the causes of psychiatric conditions.

Heritability estimates do not indicate the strength or weakness of potential genetic influences, or imply anything about changeability. Psychologist David Moore and David Shenkwrotein The Heritability Fallacy that the term heritability, as it is used today in human behavioral genetics, is one of the most misleading in the history of science. A strong statement that may well be true.

Like other psychiatric diagnoses, the decision to perform major depression molecular genetic research was based on the belief that earlier family, twin, and adoption studies produced indisputable evidence in favor of substantial heritability. This is the fundamental error of MD gene-finding strategies. Because family, twin, and adoption studies have failed to provide such evidence, there is no good reason to assume that genes for depression even exist. Future historians may well conclude that the search for non-existent genes was a scientific folly of epic proportions.

When assessing MD gene discovery claims, we should keep these additional points in mind.

The three main (at times overlapping) eras of psychiatric molecular genetic research, which dates back to the 1960s, have been the linkage, candidate gene association, and the current GWAS/PRS eras (genome-wide association study/polygenic risk score). Another area of research focuses on potential rare risk variants such as copy number variants, or CNVs. Although claims of CNV-MD gene associations have appeared in recent years, I will focus on molecular genetic studies using the candidate gene, GWAS, and PRS approaches.

Psychiatric candidate gene researchers generate hypotheses about a diagnosis, and then identify candidate genes that might play a role in causing it. Genes become MD candidates based on their role in influencing brain functions believed to be related to the diagnosis. Flint and Kendler reported that as of 2013, more than 1,500 MD candidate gene association studies had been published, and almost 200 genes had been tested. Similar to the linkage era, however, the candidate gene era in the behavioral sciences is now widely recognized to have been, as leading behavioral genetic researcher Robert Plomin conceded in 2018, a flop.

In a 2019 analysis appearing in the American Journal of Psychiatry, behavioral geneticists Richard Border, Matthew Keller and colleagues concluded that findings from the MD candidate gene era are likely to be false positives:

The study results do not support previous depression candidate gene findings, in which large genetic effects are frequently reported in samples orders of magnitude smaller than those examined here. Instead, the results suggest that early hypotheses about depression candidate genes were incorrect and that the large number of associations reported in the depression candidate gene literature are likely to be false positives.

In a subsequent interview, Keller asked, How on Earth could we have spent 20 years and hundreds of millions of dollars studying pure noise? A similar question could be asked in relation to schizophrenia candidate gene research.

An example of earlier candidate gene era excitement is found in a 2009 academic journal article entitled The Role of Serotonin in the Pathophysiology of Depression: As Important as Ever. In this publication psychiatrist Charles Nemeroff and Michael Owens reviewed and updated their 1994 citation classic article describing what they believed was a big serotonin gene discovery: One of the most exciting findings is the importance of SERT [serotonin transporter] polymorphisms [gene variants] in vulnerability to depression, and the interaction of this genetic marker with environmental factors. Both authors reported paid advisory roles with and research funding from several drug companies, and Nemeroff reported stock ownership in six related companies. At the height of the candidate gene era an article appeared in a major mass media outlet wondering out loud whether people with depression are morally obligated to forgo bearing children in order to avoid passing on their bad genes. The genetic predisposition and serotonin theories of MD have been linked for many years.

Psychologist Stuart Ritchie recalled in 2020 that when he was an undergraduate student between 2005 and 2009, candidate gene studies were the subject of intense and excited discussion. By the time I got my PhD in early 2014, they were almost entirely discredited. For Ritchie, who otherwise strongly supports behavioral genetic research and theories, reading through the candidate gene literature is, in hindsight, a surreal experience: they were building a massive edifice of detailed studies on foundations that we now know to be completely false.

The Most Famous Candidate Gene-Environment Link of Them All. A highly publicized MD-candidate-gene link was put forward in a widely cited 2003 study by Avshalom Caspi and colleagues (according to Google Scholar, cited over 10,400 times as of August, 2022, or about 550 citations per year over 19 years), who concluded that people experiencing stressful life events are more likely to be diagnosed with depression if they carried 5-HTTLPR, a variant genetic sequence within the SLC6A4 gene that encodes a protein that transports serotonin within neuronal cells. For many people, the Caspi study provided a sensible explanation for the causes of depression, where life events and genetic predisposition combined to explain why some people become depressed, while others do not. However, despite the publication of at least 450 research papers about this genetic variant, by 2018 or so it was clear that the 5-HTTLPR depression theory did not hold up.

The rise and fall of the 5-HTTLPR-depression link was described in psychiatric drug researcher Derek Lowes aptly-titled 2019 Science article, There Is No Depression Gene. The depression candidate gene literature, he wrote, turned out to be all noise, all false positives, all junk. A 2019 online article by a psychiatrist using the pen-name Scott Alexander documented years of subsequently unsubstantiated 5-HTTLPR-depression claims in the scientific literature, and how the media popularized these claims by calling 5-HTTLPR and a few similar variants orchid genes, because orchids are sensitive to stress but will bloom beautifully under the right conditions. Who could say a bad word about orchids? Alexander summed up the 5-HTTLPR debacle as follows:

First, what bothers me isnt just that people said 5-HTTLPR mattered and it didnt. Its that we built whole imaginary edifices, whole castles in the air on top of this idea of 5-HTTLPR mattering. We figured out how 5-HTTLPR exerted its effects, what parts of the brain it was active in, what sorts of things it interacted with, how its effects were enhanced or suppressed by the effects of other imaginary depression genes. This isnt just an explorer coming back from the Orient and claiming there are unicorns there. Its the explorer describing the life cycle of unicorns, what unicorns eat, all the different subspecies of unicorn, which cuts of unicorn meat are tastiest, and a blow-by-blow account of a wrestling match between unicorns and Bigfoot.

So ends the sorry and expensive MD candidate gene story. Despite the expenditure of hundreds of millions of dollars on the depression studies alone, and despite genetic researchers sincere and admirable desire to prevent and alleviate human suffering, the behavioral science candidate gene era turned out to be, in the words of our planets top behavioral geneticist, a flop.

Given the failure of family studies, twin studies, adoption studies, linkage studies, candidate gene studies, and rare variant studies to produce scientifically acceptable evidence that disordered genes play a role in causing MD, supposedly hypothesis-free GWAS/PRS research has become the last hiding place of potential MD heritability. GWAS researchers attempt to identify single-nucleotide polymorphisms or SNPs(pronounced snips by those in the field).These variants, numbering in the millions and curated in an ever-growing digital catalogue available to researchers, are considered common minority variants of genes present in at least 1% of the population. Because multiple comparisons are made, the GWAS significance threshold is very high, usually 5 108. A PRS study combines statistically significant and non-significant individual SNP hits to produce a polygenic (composite) risk score. Polygenic risk scores have been described as constructed as a weighted sum of risk allele counts using effect sizes estimated from GWAS as the weights. They are expressed as a percentage.

As GWAS pioneer Jonathan Flint, Ralph Greenspan, and Kendler repeatedly stressed in their 2020 book How Genes Influence Behavior (2nd ed.), A GWAS does not find association with a gene. A GWAS finds associations with a locus, which is a geneticists term for placea place in the genome where the genetic variant is found.If the variant found by a GWAS altered a coding region, as was initially hoped, then it would be straightforward to say which genes were involved in the trait under investigation. But GWAS hits turned out not to be coding for SNPs.

To repeat: A GWAS does not identify causative genes, and a gene association points to a correlation or to a chance finding, not to a cause. The classic example of a correlation not implying cause is that if red-haired people in a given society are persecuted, and for this reason alone many red-haired people suffer from depression, this indicates only that genes for red hair are associated with depression, not that they cause depression.

In 2014, Flint and Kendler recognized the failure of the nine GWASes published up to that time. Since then, a few studies have produced GWAS SNP hits that psychiatry and the media now put forward as solid MD gene associations. However, psychiatric GWAS/PRS studies have been the subject of controversy for several reasons. I will mention a few of the problem areas.

Associated With Caused By. As we saw, a GWAS identifies regions of the genome (hits) associated with a condition. It does not identify genes that cause it, and associated with does not mean caused by.

Population Stratification Confounds. GWAS/PRS findings are subject to the confounding influence of population stratification (pop strat), which can lead to spurious findings (explained here, here, here, and here). Briefly, population stratification refers to differences in allele frequencies between cases and controls due to systematic differences in ancestry, rather than association of genes with disease. No generally accepted remedy for pop strat has been found, although many have been proposed and attempted.

Dependence on Heritability Estimates. Heritability estimates both justify and guide a GWAS. Researchers assume that heritability estimates are important and roughly accurate, and that MD heritability is in the 30%-40% range. If a heritability estimate is inflated due to systematic bias, or if heritability estimates are meaningless in and of themselves (apart from their original purpose of helping predict the results of a selective breeding program), attempts to find causative genes will end up as expensive failures.

A Scientific Fishing Expedition? By definition, a scientific fishing expedition is a hypothesis-free method, where researchers base their conclusions on significant correlations that in the GWAS context pop up on a Manhattan Plot. According to an author writing in a clinical psychiatry publication, The termfishing expeditionis used to describe what researchers do when they indiscriminately examine associations between different combinations of variables not with the intention of testing a priori hypotheses but with the hope of finding something that is statistically significant in the data. It could be argued that a GWAS is a type of fishing expedition, or even more, a massive gene-trawling juggernaut hauling in as much variation as possible. In 2016, behavioral geneticist Eric Turkheimer referred to the GWAS method as unapologetic, high-tech p-hacking.

Conflicts of Interest. Potential conflicts of interest exist when research, researchers, and institutions are funded by companies that profit from the promotion of biological and genetic explanations of depression. A large-sample GWAS claiming 178 significant loci-associations for MD, including replication of the findings in an independent sample, was published in 2021. Yale Universitys Daniel Levey was the lead author, and the corresponding author was psychiatric researcher Murray B. Stein. Dr. Steins competing interests statement read (I marked companies that develop antidepressant drugs with an asterisk), M.B.S. reports receiving consulting fees in the past 3 years from Acadia Pharmaceuticals*, Aptinyx*, Bionomics*, BioXcel Therapeutics*, Boehringer Ingelheim, Clexio Biosciences*, EmpowerPharm, Engrail Therapeutics*, Genentech/Roche, GW Pharmaceuticals, Janssen*, Jazz Pharmaceuticals and Oxeia Biopharmaceuticals. The annual consulting fee income Dr. Stein received was not disclosed. The article said that he and a co-author secured funding for this project. The direct-to-consumer genetic testing company 23andMe played a significant role in this study, a company that stood to profit from the discovery of relevant MD genes. There is a symbiotic relationship between psychiatry, biopsychiatry, direct-to-consumer genetic testing companies, and the drug companies. All have a vital and mutual interest in convincing the public that psychiatric conditions are real brain-based diseases rooted in genetics, in need of medication like other diseases. As Robert Whitaker and others have shown, all share in the profits.

Other Unlikely GWAS Findings. The GWAS method has produced some questionable and even humorous findings. These include significant hits for behavioral characteristics that include getting concussions, self-reported childhood maltreatment, crying habits, female sexual dysfunction, food liking, household income, ice cream flavor preferences, loneliness, being a morning person, musical beat synchronization, regular attendance at a sports club, pub, or religious group, and white wine liking. Results of this type are obvious GWAS red flags, just as they were during the failed candidate gene era.

Polygenic Risk Score Cautions and Warnings. In an interview, veteran psychiatric genetic researcher Elliot Gershon described PRS as sort of a mindless score, and that you cant really tell anything from the polygenic risk factor. In a detailed analysis, sociologist/criminologist Callie Burt described several potential PRS environmental confounds, and concluded that scores should be used sparingly and cautiously with caveats placed front and center. Historian of science Nathaniel Comfort warned that polygenic risk scores are in no sense causal. A group of genetic researchers concluded that polygenic scores are computed under erroneous assumptions. Medical researcher Keith Baverstock called polygenic risk scores a dangerous delusion.

Science is in the midst of a replication crisis (also known as the reproducibility crisis), meaning a crisis brought about by the discovery that some key findings across various scientific fields were probably non-findings resulting from research that was poorly performed, manipulated to match confirmation biases or funding source expectations, or even fraudulent. The traditional scientific research and publication process makes it possible for researchers to change various aspects of their study after reviewing their data, but before submitting their paper for peer review and publication. Science writer Ed Yong wrote a 2019 Atlantic article about how confirmation biases may have played a role in prolonging what Lowe called the all noise, all false positives, all junk MD candidate gene era:

Many fields of science, frompsychologytocancer biology, have been dealing with similar problems: Entire lines of research may be based on faulty results. The reasons for this so-called reproducibility crisis are manifold. Sometimes, researchersfutz with their datauntil they get something interesting, orretrofit their questionsto match their answers. Other times, they selectively publish positive results while sweeping negative ones under the rug, creating a false impression of building evidence.

Such practices have led to increasing calls for research preregistration, where investigators would have the option or be required to submit their research rationale, hypotheses, design and analytic strategy, and planned data-collection stop point to a journal for peer review before they collect and analyze their data. Although we may never be able to eliminate bias altogether, wrote cognitive neuroscientist Chris Chambers, a sure way to immunize ourselves against its consequencesis peer-reviewed study preregistration.

Yong saw the problems that led to the downfall of depression candidate gene research as characteristic ofan academic world that rewards scientistsfor publishing papers in high-profile journalsjournals that prefer flashy studies that make new discoveries over duller ones that check existing work. Researchers are rewarded for beingproductiverather than beingright, for building ever upward instead of checking the foundations. (The validity of twin studies question is an example of a foundation that molecular genetic researchers rarely check.) After enough (albeit weak) studies are published, according to Yong they create a collective perception of strength that can be hard to pierce. Hard to pierce, that is, until the entire false-positive structure comes crashing down.

Most likely, Stuart Ritchies 2020 evaluation of the behavioral candidate gene era will be the eventual evaluation of the behavioral and psychiatric GWAS/PRS era as well (emphasis added): They were building a massive edifice of detailed studies on foundations that we now know to be completely false.

I have shown that family, twin, adoption, and molecular genetic studies have failed to provide scientifically valid evidence that genes play a role in causing depression. Combined with the recent findings by Moncrieff and colleagues that serotonin is not associated with depression, the idea of MD as a medical condition is in serious trouble.

To understand the true causes of depression, we must focus on family (including abuse and trauma), social, and political environments, including racial, gender, class, and other types of oppression/discrimination. We must address peoples increasing social isolation and disconnection from each other, lack of meaning and purpose, consumerism, and fears of present or future calamities such as pandemics, climate change, and nuclear war. The idea of depression as a medical/genetic condition must be reevaluated, and non-medical prevention and intervention strategies should be promoted. This is the approach of the Power Threat Meaning Framework (PTMF), developed by psychologists Lucy Johnstone, Mary Boyle, and others. In a 2020 introductory book, the authors described the Frameworks overall message as follows:

All forms of adversity and distress are more common in social contexts of inequality and other forms of deprivation, discrimination, marginalisation and injustice. This evidence does not support the individualisation of distress, either medically or psychologically. Instead, it implies the need for action, primarily through social policy, at the earliest possible point, before the destructive and self-perpetuating cycles are set in motion.

Psychiatry sees a depressed person and asks, What is wrong with you? The PTMF asks, as do most psychotherapists, What happened to you? Given the lack of evidence, terms such as serotonin, chemical imbalance, brain disease, genetic predisposition, genes, and heritability should not be found in the answer to either of these questions. As James Davies wrote, the medical model describes suffering as being rooted in individual rather than social causes, leading individuals to think that it is them rather than the economic and social system in which they live that is at fault and in need of reform.

Psychiatrys longstanding major depression chemical imbalance and brain disease claims used to support the medical model are now crumbling. The longstanding and related depression as a heritable disorder claim awaits its turn.

***

Mad in America hosts blogs by a diverse group of writers. These posts are designed to serve as a public forum for a discussionbroadly speakingof psychiatry and its treatments. The opinions expressed are the writers own.

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Major Depression: The Chemical Imbalance Pillar Is CrumblingIs the Genetics Pillar Next? - Mad In America - Mad in America

Recommendation and review posted by Bethany Smith

Diagnostics and research startup MedGenome announced on Tuesday it raised $50 million led by life science-focused Novo Holdings, bringing total funding to $185.5 million.

MedGenome, a California-based startup, leverages genomic sequencing platforms to aid in diagnostics and drug discovery.

Most notably, the 9-year-old startup also collects samples from patients in and around the Indian subcontinent to better map out variations in genetic sequencing among the South Asian population. Leveraging a network of over 4,000 hospitals and 10,000 doctors around the world, MedGenome has distributed over 300,000 genetic tests. The company says it has built the largest database of South Asian genetic variants.

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The fresh funding will launch the company out of South Asia and into Africa and the Middle East.

Breakthroughs and discovery are only as successful as the data on which theyre based, said Dr. Felix Olale, global co-lead for health care investments at LeapFrog Investments in a statement, MedGenomes mission to expand the global genomic dataset to aid in the development of more inclusive and equitable research and drug discovery is not only inspiring, but critical to the future of global healthcare.

Scientists envision a genomic sequencing utopia where enough data exists to predict if an otherwise-healthy person is at risk for diseases, allowing patients to receive preventative care early on. Several countries leveraged genomic sequencing to map out COVID-19 outbreaks down to the very person that hosted a new variant.

But the vast majority of genetic testing happens in high-income countries such as those in Europe and North America, leaving a large slice of the population untested. This is dangerous: Any research or patterns derived from a Europe-heavy dataset skews what treatment looks like for everyone.

Genomic sequencing technology is what allowed scientists to create a vaccine against COVID-19 without ever having a sample of it. The technology partially led genomics startups to receive a record $2.3 million in venture funding in 2021, according to Crunchbase data.

Illustration: Dom Guzman

Stay up to date with recent funding rounds, acquisitions, and more with the Crunchbase Daily.

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MedGenome Raises $50M To Map The Human Genome - Crunchbase News

Recommendation and review posted by Bethany Smith

Are you also struggling to conceive after months of unprotected sex? If you are planning to look for fertility treatments, let us tell you two most common treatments which leave people confused. These are In vitro fertilization (IVF) and Intrauterine insemination (IUI). So, how to decide whether to go for IUI or IVF? What are the risks involved with both processes? Come, lets get answers.

IUI is a fairly simple treatment usually carried out in combination with fertility drugs. The procedure begins with monitoring a womans menstrual cycle under ultrasound to rule out the presence of ovarian cysts that could interfere with ovulation. When you are ready to ovulate, highly motile sperm from your partner or donor is washed and concentrated, and placed into your uterus. You might be the right candidate for IUI if you are suffering from unexplained fertility when no cause can be found for your infertility or in the case of male infertility wherein your partner either has a low sperm count or low motility.

IUI being less invasive and less expensive could be your first reasonable option if you have time on your side and are free of any factors that prevent you from trying it. Besides, it requires fewer medications and even none at all in some cases.

It may be useful for people who have ejaculation disorder and are unable to have intercourse either due to stress or psychological issues around the time of formulation.

The IVF process has higher chances of success when doctors can attempt fertilization on a larger number of eggs, for which, a female patient is typically placed on ovary-stimulating medications to make her body produce multiple eggs in one cycle. The eggs are retrieved from the patients ovaries when they are sufficiently mature and combined with the sperm from the semen sample followed by careful observation by an embryologist for about five days.

Also, read: Keep your calm during fertility treatment with these 5 tips

The embryos formed by using this procedure can either be transferred back to the uterus in hopes of conception or frozen for use in a later pregnancy attempt.

IVF may be a good option if you have blocked fallopian tubes, are suffering from endometriosis, unexplained infertility, decreased ovarian reserve, or have male infertility issues. On the other hand, it might not be a viable option for women suffering from ovarian dysfunction, uterine abnormalities, fibroid tumors, or abnormal hormone levels.

Some of the risks associated with IVF include multiple births, especially if more than one embryo is placed into your uterus, premature delivery and low birth weight, ovarian hyperstimulation syndrome, ectopic pregnancy, etc.

Intracytoplasmic sperm injection (ICSI) is one major reason that makes IVF more successful for those with severe male factor disease in comparison to IUI-IntraUterine Insemination. The process makes use of a single sperm injected directly into an egg (as opposed to a normal IVF cycle without ICSI that allows normal mixing in a laboratory dish followed by natural fertilization).

Also, read: You must focus on self-care while undergoing fertility treatment. An expert explains why

IVF in combination with ICSI offers hope to those with very low sperm count, sperm with difficulty moving or penetrating the egg due to its shape or structure or sperm extracted directly from the testicles.

Genetic testing of embryos that are created in the lab is another major benefit of IVF vs IUI. This allows testing of general genetic health of embryos like specific single-gene disorders, such as cystic fibrosis, ensuring they have the proper number of chromosomes and more.

The chance of having multiples such as twins, triplets, and more is considered to be the result of IVF, contrary to the belief, it is more common with a medicated IUI cycle (especially that makes use of injectables), because doctors have less control over how many eggs are released and fertilized.

The chances of success vary for every patient depending on their diagnosis, age, medical history, etc. However, IVF has significantly higher success rates and though it is more expensive, it may be worthwhile for some patients.

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IVF or IUI: Which one to choose for a fertility treatment? - Health shots

Recommendation and review posted by Bethany Smith

Visiongain Reports Ltd

Visiongain has published a new report entitled Molecular Diagnostics Market 2022-2032. It includes profiles of Molecular Diagnostics Market and Forecasts Market Segment by Market Segment by Type (Testing service provider, Diagnostic Manufacturers, OEM & Software Providers), Market Segment by Application (Infectious Disease Diagnostics {COVID-19, Hepatitis, HIV, CT/NG, HAI, HPV, Tuberculosis, Influenza & Others}, Oncology Testing, Genetic Tests and Others), Market Segment by End User (Diagnostic Laboratories, Hospitals and Clinics, Other End Users) plus COVID-19 Impact Analysis and Recovery Pattern Analysis (V-shaped, W-shaped, U-shaped, L-shaped), Profiles of Leading Companies, Region and Country.

The global molecular diagnostics market was valued at US$23,498.2 million in 2022 and is projected to grow at a CAGR of 7.28% during the forecast period 2022-2032.

New Product launches and Enhanced Utilization of BiomarkersIncreasing biomarker applications, new product launches by market players in response to increased government initiatives, increased demand for molecular diagnostic tests, and increased adoption of inorganic growth strategies such as mergers, acquisitions, partnerships, and collaborations by key market players are the major factors expected to drive growth in the U.S., Europe, and Asia Pacific molecular diagnostics markets. The expansion of the molecular diagnostics market is expected to increase research and development for biomarker identification, resulting in the development of new molecular diagnostic tests. For example, the FDA (Food and Drug Administration) granted authorization to Banyan Biomarkers, Inc., a biotech company, in February 2018 for traumatic brain injury, for the first diagnostic blood test. Molecular diagnostics provides precise and effective results and has critical applications in disease diagnosis. However, one of the major factors impeding market growth is the high cost of molecular tests.

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Molecular Diagnostics (MDx) Market Report 2022-2032

How has COVID-19 had a significant positive impact on the Molecular Diagnostics Market?

Recent outbreak of COVID-19 impelled the diagnostics industry into quick action, with an emergence to produce novel and rapid diagnostics kits for covid-19 detection. The pandemic led to a spike in the revenue of companies operating in the Software Providers segment. For instance, in April 2021, a 59% rise in revenue was reported by Thermo Fisher Scientific, owing to the diagnostics division that delivered 150% growth. However, with significant number of vaccinations on a global scale, the demand for molecular diagnostics for COVID-19 testing is set to decline in the years to come.

COVID-19 is more common in the elderly population due to decreased immune function, multimorbidity, and physiological changes associated with ageing. The rising geriatric population globally is increasing the risk of getting numerous diseases including obesity, neurological disorders, and diabetes. As per a UN report, in 2020, there were about 727 million people aged 65 years & above globally. Furthermore, the number of people aged 80 and up is expected to double by 2050, reaching more than 1.5 billion. The fact that the global geriatric population is expected to grow over the forecast period is expected to be a significant market driving factor.

How will this Report Benefit you?

Visiongains 236-page report provides 106 tables and 173 charts/graphs. Our new study is suitable for anyone requiring commercial, in-depth analyses for the global vaccine contract manufacturing market, along with detailed segment analysis in the market. Our new study will help you evaluate the overall global and regional market for Molecular Diagnostics Market. Get financial analysis of the overall market and different segments including type, application and end user, and company size and capture higher market share. We believe that there are strong opportunities in this fast-growing vaccine contract manufacturing market. See how to use the existing and upcoming opportunities in this market to gain revenue benefits in the near future. Moreover, the report will help you to improve your strategic decision-making, allowing you to frame growth strategies, reinforce the analysis of other market players, and maximise the productivity of the company.

What are the Current Market Drivers?

Recent Advancements in PCR and real time PCR Molecular DiagnosticsPolymerase chain reaction (PCR) molecular diagnostics have seen a significant increase in popularity in recent years. PCR tests are extremely effective at detecting pathogenic DNA for a variety of infectious diseases. Attempts are being made to broaden the scope of PCR and RT-PCR tests in order to find treatments for life-threatening diseases.

The COVID-19 pandemic has increased the market for PCR and real-time PCR molecular diagnostics. Real-time (qPCR) and digital (dPCR) PCR tests have been used to detect and diagnose potential cases in a variety of healthcare settings. PCR tests have been widely used by healthcare providers due to their high sensitivity. As a result of these trends, the global PCR and real-time PCR molecular diagnostics market is expected to soar to new heights, surpassing an already impressive revenue. Real-time PCR tests are likely to remain profitable due to their higher sensitivity, timely processing of test results, greater precision, and lower proneness to contamination, thereby limiting error margins. The use of RT-PCR tests has increased significantly in the aftermath of the COVID-19 pandemic. Similarly, as smart technology becomes more prevalent in the healthcare sector, digital PCR tests are gaining traction. Calibration against standards is not required for digital PCR tests, which is important for RT-PCR tests. Furthermore, dPCR tests can detect more samples than traditional PCR tests.

Because of the high prevalence of sexually transmitted infections, respiratory infections, and hepatitis C and B, testing for infectious diseases is expected to grow rapidly. Following the COVID-19 pandemic, the PCR and real-time PCR molecular diagnostics market is expected to gain tremendous traction

Rising Outbreaks of Viral and Bacterial Pandemic Globally

The molecular diagnostics market is currently gaining traction due to the fact that molecular tests are routinely used for the diagnosis of cancer and other infectious diseases. The rise in demand for Molecular Diagnostics is primarily due to the increasing prevalence of infectious diseases, such as the recent COVID-19 outbreak and the rising global burden of cancers, Lyme diseases, and others. Furthermore, other factors such as technological advancements and rapid product approvals in the Molecular Diagnostics product arena are expected to drive the Molecular Diagnostics market. Furthermore, product approval for the detection and differentiation of HIV infection for personalised HIV management will boost the molecular diagnostics market.

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Molecular Diagnostics (MDx) Market Report 2022-2032

Where are the Market Opportunities?

Expanding Technological Advancements in Precision MedicineOn a global scale, medicine is understood differently, and this scenario is changing dramatically as healthcare moves toward precision medicine; it will no longer take a one-size-fits-all approach, but rather one that is more targeted and based on each patient's individual clinical, molecular, and lifestyle data. Key players are widely collaborating with the precision medicine community to advance in molecular diagnosis and treatment by leveraging the global infrastructure and knowledge to deliver industry-leading capabilities ranging from population profiling to targeted therapeutics.

The widespread use of precision medicine will usher in a new era in healthcare and diagnostics in which patients will receive the care they require, particularly for life-threatening conditions. Precision oncology, which makes use of next-generation sequencing (NGS) technology to speed up the selection process.

Competitive LandscapeThe major players operating in the molecular diagnostics market are Abbott Laboratories Inc, F. Hoffmann-La Roche Ltd., Hologic Inc., Qiagen N.V., Becton, Dickinson and Company, Cepheid, Siemens Medical Solutions Inc., Danaher Corp., Agilent Technologies Inc., Exact Sciences Corp, Abacus Diagnostica Oy [Uniogen], PerkinElmer, Inc., bioMrieux SA, Thermo Fisher Scientific. These major players operating in this market have adopted various strategies comprising M&A, investment in R&D, collaborations, partnerships, regional business expansion, and new product launch.

Recent Developments

In May 2021, Roche acquired GenMark Diagnostics for a sum of USD 1.8 billion. This acquisition will aid in the expansion of Roche's molecular diagnostics portfolio. Furthermore, the company completed the acquisition of TIB Molbiol Group in December 2021. TIB Molbiol Group has approximately 45 CE-IVD approved assays for infectious disease diagnosis, inherited genetic testing, transplant medicine, and haematology testing.

In June 2021, Hologic, Inc. (US) completed the acquisition of Mobidiag Oy (Finland) which is an innovator in acute care molecular diagnostic testing. This strategy will help the company in expanding its molecular diagnostics product portfolio.

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About Visiongain

Visiongain is one of the fastest-growing and most innovative independent market intelligence providers around, the company publishes hundreds of market research reports which it adds to its extensive portfolio each year. These reports offer in-depth analysis across 18 industries worldwide. The reports, which cover 10-year forecasts, are hundreds of pages long, with in-depth market analysis and valuable competitive intelligence data. Visiongain works across a range of vertical markets with a lot of synergies. These markets include automotive, aviation, chemicals, cyber, defence, energy, food & drink, materials, packaging, pharmaceutical and utilities sectors. Our customised and syndicatedmarket research reportsoffer a bespoke piece of market intelligence customised to your very own business needs.

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Global Molecular Diagnostics Market is projected to grow at a CAGR of 7.28% by 2032: Visiongain Reports Ltd - Yahoo Finance

Recommendation and review posted by Bethany Smith

Joseph E. Sullivan, MD: Hello, and thank you for joining this NeurologyLive Cure Connections program titled Dravet Syndrome and Lennox-Gastaut Syndrome: Perspectives from the Patient Journey. Dravet syndrome is a rare and severe form of epilepsy that begins in infancy and continues throughout the lifetime. It is characterized by frequent often prolonged seizures that can be provoked by fever and may affect one side of the body. The majority of patients with Dravet Syndrome have pathogenic variants in the SCN1A gene.

Lennox-Gastaut Syndrome, often abbreviated as LGS, is another epilepsy syndrome that presents in childhood and persists throughout adolescence and adult years. Patients often experience multiple types of seizures, including stiffening of the body or temporary loss of muscle tone and consciousness, both of which often result in a fall. LGS can be caused by a variety of underlying conditions. In many cases, no cause can be identified.

My name is Dr. Joseph Sullivan, and I'll be your host today. I am a pediatric neurologist at the University of California, San Francisco Pediatric Epilepsy Center in San Francisco, California. I'm joined today by a colleague and friend Dr. Kelly Knupp, who's a pediatric neurologist at the University of Colorado School of Medicine in Aurora, Colorado. We are also joined by Mary Anne Meskis, also a friend and colleague, who is the founding member of the Dravet Syndrome Foundation, and her son has Dravet Syndrome. And lastly, we are joined by Dr. Tracy Dixon-Salazar, also a colleague and friend, who is executive director of the LGS Foundation; Dr. Dixon-Salazar is a neuroscientist and geneticists, and her daughter has LGS. Thank you all for joining me today; it's great to see you all. Let's get started with our program.

Our first section is going to be on Dravet Syndrome, and I really want to first start out with an overview, and how we start to suspect the diagnosis. Then, we will start to get into more of the details of why this is a syndrome, why it's more than just seizures, and how all these different aspects of the syndrome have an impact on quality of life. Kelly, maybe you can just start us off by giving an overview of Dravet Syndrome, how common it is, and the early symptoms and signs that we should be aware of.

Kelly Knupp, MD: Dravet Syndrome is a developmental epileptic encephalopathy that usually starts in the first year of life. It is most commonly characterized by seizures, of which there can be of multiple types, many of which are provoked by changes in temperature. We also see intellectual impairment that may actually be more apparent as children get older, which I think is really important when we're thinking about diagnosis, because we may not see that component early on. We can also see a progressive gait disorder, as well as behavioral disorders and a number of other comorbidities.

One of the characteristics of this syndrome is that it's often associated with a pathogenic variant in a gene called SCN1A. The vast majority of children do have one of those genetic diagnoses, but not all children. That's important to keep in mind, as well that there's a clinical syndrome, but we may not find a genetic mutation that goes along with it. It is also important to know that there are some children who have a pathogenic variant in SCN1A, who don't actually have Dravet syndrome. It's important to look for both of those things: the clinical syndrome as well as the gene mutation. Initially, we thought this wasn't very common, that it was present in about one in 40,000 children. Some recent data suggest that it's more common than that, perhaps about one in 15,000. It is something that we see in most practices, and I worry when people tell me that they haven't seen Dravet Syndrome in their practice, because I think they're probably missing it.

Joseph E. Sullivan, MD: Absolutely. We are of similar age and trained at similar times. When I was in training, I probably saw one child with Dravet Syndrome, which means we missed a lot of them. Its almost embarrassing, but you can see how it happens. We are told as pediatricians that febrile seizures are common and many of these kids are told not to worry about it. Could you go into a little bit more detail? In 2002, with everything that we know, when should we not be thinking this is just a febrile seizure?

Kelly Knupp, MD: I follow a child in my practice, and I remember having a conversation with this childs mom about how common febrile seizures were. I felt really comfortable that this was febrile seizures, and, in the end, it was not. Many of us have had that experience. In my mind, any child who's had a prolonged febrile seizure, particularly if it's one side shaking more than the other a hemiconvulsive seizure, we should think about doing genetic testing. For any child who's had 2 or more febrile seizures, if one of them has been prolonged, we need to think about doing genetic testing. I'm on the fence about the children who have had 2 simple febrile seizures and otherwise are doing well, because we know that about one-third of children who have a first febrile seizure will go on to have a second febrile seizure. But, if there's something like a prolonged seizure, or a focal nature to the seizure, we have to consider doing genetic testing.

Joseph E. Sullivan, MD: Age is a factor, too. We're told that febrile seizures occur at six months, if a patient has a simple febrile seizure at six months and then another simple febrile seizure at seven months, that's a worry to me.

Kelly Knupp, MD: That would start to make me a little anxious, too, I agree. Having them so close together would definitely worry me too.

Joseph E. Sullivan, MD: Classically, we used to think that Dravet syndrome only presented at less than one year of age. But now, with the ability to get genetic testing, we understand the evolution of a syndrome a little more, and it's clear that patients are presenting at a later age, although there still is kind of this sweet spot time, or age, when kids present.

Kelly Knupp, MD: Even for those older children, their parents usually are able to describe some sensitivity to change in temperature, which may not necessarily be a febrile illness, but can be other things, such as getting in and out of the bathtub. Whenever I hear somebody who describes their child having seizures when getting out of the bathtub, we should test for Dravet syndrome. Or for patients going in and out of the grocery store or Target, where that heat is blasting down on top of them, as soon as I hear that in history, I always need to look closer. Genetic testing for most of our patients in this age group is so readily available, even if insurance doesn't cover it. We have programs like Behind the Seizure, where it is relatively straightforward to get genetic testing in this cohort. Unfortunately, that doesn't help our older patients and adults, where this history may be difficult to tease out.

Transcript Edited for Clarity

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Overview and Prevalence of Dravet Syndrome - Contemporary Pediatrics

Recommendation and review posted by Bethany Smith

Kristin Beasley is descended from some of the Big Horn Basins first settlers.

My ancestors were tough I come from a strong heritage, she said. It takes grit to settle a sagebrush area into a town. My family still lives in Emblem and Burlington.

It also takes toughness and grit to live with breast cancer.

Beasley was diagnosed with stage 4 breast cancer in 2019 and has since beat the cancer into remission while continuing to work, be a mother and a wife.

Now shes part of a campaign for Cody Regional Health. It was at CRHs Big Horn Basin Cancer Center where she got to ring the bell signifying the end of her tough treatments there, although it was not the end of the struggle, just a roadblock in a survivors journey.

There is a lot of fear and anxiety, she saidlast fall during a break in her workday at the Department of Family Services. And I juggle a lot work, kids, a monthly blood draw and doctor appointments. But I choose to be positive. There has been a lot of prayer and faith. A lot of friends supporting me. A lot of faith.

My story isnt over. And I choose to live and love while I can.

Cancer survivors often write stories about the process and their thoughts. This is Beasleys story:

I felt a lump and finally went to the doctor. I had a mammogram and ultrasound, followed by a biopsy in December of 2019. The results of my biopsy came back on a Monday afternoon. My husband and I met with the doctor on Tuesday to discuss options and I was in the O.R. having a lumpectomy on Wednesday. The margins of the lumpectomy werent completely clear, so I opted to have a complete mastectomy. Between surgeries, my family and I were able to go on a wonderful vacation (that was already planned) to Kennedy Space Center and Disney World at the beginning of January 2020. I came back and really started this journey. I had a mastectomy in January 2020. I finally met with an oncologist. We chose the chemo regimen I was going to have. I finally convinced her to do a CT scan. That CT showed findings in my lymph nodes and sternum. I read the CT results and called my doctor because she didnt tell me about the findings in the sternum.

That weekend was horrible. Every test I had taken was showing something worse and worse. The feeling of being told you have stage 4 cancer, I cant even put into words. The fear of what will happen can be overpowering. Although I felt just fine, the tests kept saying this disease is progressed. At this point, I didnt know how fast this would progress, how long I would live if I would see my kids graduate from high school. I choose to focus on the positive and just keep going because otherwise the fear and anxiety becomes overpowering.

Through all this, although I was extremely scared, I felt calm. A calm I can only describe as Gods love and peace. That love and peace continue. It doesnt always make it easier, but I also know its going to be okay.

I quickly switched doctors to the Cancer Center. They got me in to see a doctor very quickly. I had a biopsy of the sternum which confirmed that breast cancer was indeed in my sternum. Since I was so young (I was 42 when I was diagnosed), we did genetic testing. This showed that I was BRCA 2 positive. Although I didnt realize I had a family history, my disease is genetic. My mother and both sisters have also had genetic testing and are also positive. Luckily they can monitor and take measures to not get this disease as I have.

My team of doctors and I decided to begin my treatment with radiation. A lot of cancer patients start with chemo and then have radiation. I had radiation in April of 2019. School had just shut down for Covid, and my fourth and sixth-grade daughters were doing home school. I was working full time, and going to my radiation appointments during my lunch hour. I would go home after work to be a mom and wife cleaning and cooking. All the while worrying about my disease and how it affects my kids and if treatment would be effective. I rang the Bell of radiation May 1, 2020. To me, instead of feeling like the end of my journey, it felt like the beginning. The radiation staff and Dr. Lord are amazing. They made a very uncomfortable, hard situation tolerable.

After I finished radiation my ovaries were completely shut down. This needed to happen because my cancer is hormonal. I couldnt have a hysterectomy because elective surgeries were not happening at that point. I was put into instant menopause. Complete with hot flashes, hormonal rages (I would completely lose it on my poor dog laying on my bed at night) and always sleeping hot. I also began Ibrance daily oral chemo, and an infusion for bone strength once a month. I continue that regimen. I go to work, church, kids activities and live with this disease. Cancer and the treatment affect everyone differently. I havent missed work because I was sick Somehow I have pushed through.

I had a hysterectomy a year ago in October 2020. This surgery was hard to recover from. I took one week off work and went back part-time the next week. Then I was back full time every day. But it took a long time to get my energy back. Now to monitor my disease I have a PET scan every six months (Ive had three so far), a CT scan once a year and an MRI every year. I also see a dermatologist for a full body skin check. The BRCA 2 gene carries an increased risk for breast, ovarian, pancreatic and melanoma.

The doctors and nurses at the cancer center are amazing. Many I know and are friends with. Their love and support have helped get me through this. Since I walked into that building, I knew they had my back. In fact, one of the nurses is my friend. When she heard about my experience with my first doctor, she called me and told me I needed to be at the cancer center. They could take care of me, and I needed to switch doctors. Her concern for me is a major reason I switched to the cancer center. ALL the staff doctors, nurses and front desk are amazing. They really care about you, and I know they absolutely want to give me the best care they can.

The quotes I live by: Keep trying, keep trusting, keep believing. Heaven is cheering you on today, tomorrow, and forever. Jeffrey R Holland and You never know how strong you are until being strong is the only choice you have. - Bob Marley

Visit link:
'It takes toughness and grit' Beasley shares on her breast cancer battle, survivor's journey - Cody Enterprise

Recommendation and review posted by Bethany Smith

One of the tests is analyzed in China and both mother and fetal DNA might be accessed by the Chinese government.

If the Chinese authorities really want to, they will get access to the genetic data. This is the general relationship between Chinese companies and the state. You cannot know what happens to your own and the unborn childs DNA, Mette Halskov Hansen, professor in Chinese Studies at the University of Oslo, tells the Norwegian Biotechnology Advisory Boards journal.

In Norway, genetic testing types are more limited than Denmark and Sweden.

The possibility of Chinese authorities access to Norwegian DNA comes from the fact that one of the NIPT tests which are broadly used in Denmark and Sweden, Nifty, has been developed and analyzed by the Chinese company BGI.

BGI writes that Chinese authorities are given access to genetic data if national security considerations dictate.

Source: https://sciencenorway.no/china-dna-foetus/the-norwegian-consumer-council-warns-that-norwegian-dna-is-being-sent-to-china/2068572

View original post here:
Warning to pregnant Norwegian women as their DNA can be accessed by Chinese authorities - ScandAsia.com

Recommendation and review posted by Bethany Smith

DUBLIN--(BUSINESS WIRE)--The "Global Molecular Diagnostics Devices And Equipment Market Report 2022" report has been added to ResearchAndMarkets.com's offering.

The global molecular diagnostics devices and equipment market is expected to grow from $24.19 billion in 2021 to $27.91 billion in 2022 at a compound annual growth rate (CAGR) of 15.3%. The market is expected to grow to $46.87 billion in 2026 at a compound annual growth rate (CAGR) of 13.8%.

Major players in the molecular diagnostics devices (or) equipment market are Roche Ltd, Hologic, QIAGEN, Abbott, Danaher Corporation, Bio-Rad Laboratories, Siemens Healthcare, Becton Dickinson and Company, Cepheid Inc, and bioMerieux S.A.

The molecular diagnostics devices (or) equipment market consists of sales of molecular diagnostics devices and related services. Molecular diagnostics devices are used to diagnose infectious diseases and perform screening by detecting specific sequences in DNA or RNA at the molecular level. It helps doctors to prescribe more accurate therapeutic interventions in the early stages of a disease.

The main products of molecular diagnostics devices (or) equipment are instruments, reagents, and consumables. A reagent is a substance that is used for causing a chemical reaction. Reagents are used to indicate the presence of another substance.

The technologies involved are DNA (deoxyribonucleic acid) sequencing, polymerase chain reaction, isothermal nucleic acid amplification technology, transcription-mediated amplification (TMA), in situ hybridization, microarrays, mass spectrometry, and others (southern blotting, northern blotting, and electrophoresis).

The various applications are cancer, pharmacogenomics, genetic testing, infectious disease, prenatal, neurological disease, and cardiovascular disease that are used by various end-users such as diagnostic laboratories, hospitals, and others (nursing homes, blood banks, point of care).

Asia Pacific was the largest region in the molecular diagnostics devices (or) equipment market in 2021. Western Europe was the second largest market in molecular diagnostics devices (or) equipment market. The regions covered in this report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East, and Africa.

The growth in the molecular diagnostic devices and equipment market is attributed to factors such as the rapid rise in various bacterial and viral epidemics. The increase in the spread of diseases increases the demand for early and improved diagnostic methods.

To improve the technology to enable the early diagnosis of such diseases, the Government and different organizations extend their financial support towards the major key players of the industry. For example, according to the reports from Centres for Disease Control and Prevention (CDC) US, as of March 2019, 72 Zika virus disease cases were reported in U.S state and 148 Zika virus disease cases reported in US Territories.

Thus, the rise of such chronic diseases serves as a prime driver for the players in the industry to develop more accurate and sophisticated diagnostic devices and equipment. Following the increase in demand for early diagnosis of Zika virus, Co-Diagnostics, Inc. in February 2019 launched its first multi-disease molecular diagnostic test for dengue, chikungunya, and Zika.

The regulatory process involving the approval of molecular diagnostic tests is often slow. The lack of clear definition coupled with constant changes in the regulations is a challenge for companies developing these kits. In developing nations such as India and China lack of a well-defined regulatory framework negatively impacts the market, irrespective of the presence of a large population.

In the US market, because of the changes in the rules and regulations, the products already in the market may also be required to go through Food and Drug Administration (FDA)'s pre-marketing approval process. For example, CLIA (Clinical Laboratory Improvement Amendments Act) in the US certifies the validity of laboratory-based tests but it does not regulate the clinical validity of molecular diagnostic tests. This means that it does not control whether these results are clinically correct. This argument puts a restraint on the industry and opens an argument that FDA should play a greater role in overseeing laboratories.

The major players in the molecular diagnostic industry are focusing on developing automated solutions for devices and equipment used for molecular diagnostic processes. Automation of the process will help to enhance the productivity and consistency of the whole diagnostic process. Computerization of the diagnostic process gives reliable and efficient test results that manual testing by various experts does not.

The major players of the industry are using nanotechnology-based Oral Fluid Nano Sensor Test (OFNASET). The test uses a microfluidic-based nanosensor for the detection of oral cancer biomarkers in saliva. To keep up with the trend of automation and accuracy, Roche, created cobas connection modules (CCM) to improve scalability and sample-flow efficiency by allowing samples to automatically move between different systems and instruments. Thus, creating a fully automated workflow.

The molecular diagnostic devices in the US are approved by Food and Drug Administration's (FDA) Center for Devices and Radiological Health (CDRH). These diagnostics devices are generally approved with an accompanying assay, to evaluate their safety and effectiveness or substantial equivalence regarding the assays they run and the assay's defined performance parameters.

However, the same instruments do not require FDA approval or clearance when used for basic scientific research purposes. The European regulatory landscape has become more stringent and technically challenging for medical device companies.

The introduction of four different risk classes of diagnostic devices i.e. classes A-D. Class A refers to the lowest risk tests and class D refers to the highest risk test such as HIV testing, blood grouping, and prenatal testing. Most of the genetic testing is classed into class C. The products bearing a CE mark, European approved tests, are safe to use, and are in full compliance.

Key Topics Covered:

1. Executive Summary

2. Molecular Diagnostics Devices And Equipment Market Characteristics

3. Molecular Diagnostics Devices And Equipment Market Trends And Strategies

4. Impact Of COVID-19 On Molecular Diagnostics Devices And Equipment

5. Molecular Diagnostics Devices And Equipment Market Size And Growth

5.1. Global Molecular Diagnostics Devices And Equipment Historic Market, 2016-2021, $ Billion

5.1.1. Drivers Of The Market

5.1.2. Restraints On The Market

5.2. Global Molecular Diagnostics Devices And Equipment Forecast Market, 2021-2026F, 2031F, $ Billion

5.2.1. Drivers Of The Market

5.2.2. Restraints On the Market

6. Molecular Diagnostics Devices And Equipment Market Segmentation

6.1. Global Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

6.2. Global Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

6.3. Global Molecular Diagnostics Devices And Equipment Market, Segmentation By Technology, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

6.4. Global Molecular Diagnostics Devices And Equipment Market, Segmentation By Application, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

7. Molecular Diagnostics Devices And Equipment Market Regional And Country Analysis

7.1. Global Molecular Diagnostics Devices And Equipment Market, Split By Region, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

7.2. Global Molecular Diagnostics Devices And Equipment Market, Split By Country, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

8. Asia-Pacific Molecular Diagnostics Devices And Equipment Market

8.1. Asia-Pacific Molecular Diagnostics Devices And Equipment Market Overview

8.2. Asia-Pacific Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

8.3. Asia-Pacific Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

9. China Molecular Diagnostics Devices And Equipment Market

9.1. China Molecular Diagnostics Devices And Equipment Market Overview

9.2. China Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F,$ Billion

9.3. China Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F,$ Billion

10. India Molecular Diagnostics Devices And Equipment Market

10.1. India Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

10.2. India Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

11. Japan Molecular Diagnostics Devices And Equipment Market

11.1. Japan Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

11.2. Japan Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

12. Australia Molecular Diagnostics Devices And Equipment Market

12.1. Australia Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

12.2. Australia Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

13. Indonesia Molecular Diagnostics Devices And Equipment Market

13.1. Indonesia Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

13.2. Indonesia Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

14. South Korea Molecular Diagnostics Devices And Equipment Market

14.1. South Korea Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

14.2. South Korea Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

15. Western Europe Molecular Diagnostics Devices And Equipment Market

15.1. Western Europe Molecular Diagnostics Devices And Equipment Market Overview

15.2. Western Europe Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

15.3. Western Europe Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

16. UK Molecular Diagnostics Devices And Equipment Market

16.1. UK Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

16.2. UK Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

17. Germany Molecular Diagnostics Devices And Equipment Market

17.1. Germany Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

17.2. Germany Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

18. France Molecular Diagnostics Devices And Equipment Market

18.4. France Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

18.5. France Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

19. Eastern Europe Molecular Diagnostics Devices And Equipment Market

19.1. Eastern Europe Molecular Diagnostics Devices And Equipment Market Overview

19.2. Eastern Europe Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

19.3. Eastern Europe Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

20. Russia Molecular Diagnostics Devices And Equipment Market

20.1. Russia Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

20.2. Russia Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

21. North America Molecular Diagnostics Devices And Equipment Market

21.1. North America Molecular Diagnostics Devices And Equipment Market Overview

21.2. North America Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

21.3. North America Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

22. USA Molecular Diagnostics Devices And Equipment Market

22.1. USA Molecular Diagnostics Devices And Equipment Market Overview

22.2. USA Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

22.3. USA Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

23. South America Molecular Diagnostics Devices And Equipment Market

23.1. South America Molecular Diagnostics Devices And Equipment Market Overview

23.2. South America Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

23.3. South America Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

24. Brazil Molecular Diagnostics Devices And Equipment Market

24.1. Brazil Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

24.2. Brazil Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

25. Middle East Molecular Diagnostics Devices And Equipment Market

25.1. Middle East Molecular Diagnostics Devices And Equipment Market Overview

25.2. Middle East Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

25.3. Middle East Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

Link:
Global Molecular Diagnostics Devices and Equipment Market Report 2022: A $46.87 Billion Market in 2026 - Long-term Forecast to 2031 -...

Recommendation and review posted by Bethany Smith

REDWOOD CITY, Calif., Aug. 26, 2022 (GLOBE NEWSWIRE) -- Adverum Biotechnologies, Inc. (Nasdaq: ADVM), a clinical-stage company that aims to establish gene therapy as a new standard of care for highly prevalent ocular diseases, today announced that Laurent Fischer, M.D., president and chief executive officer of Adverum Biotechnologies, will present at the Gilmartin Group Inaugural Emerging Growth Company Showcase, being held on Wednesday, August 31, 2022.

Interested parties can access a live webcast of the presentation directly by following this link. An archived webcast of the presentation will be available under the Events and Presentations in the Investors section of Adverums website.

About Adverum Biotechnologies

Adverum Biotechnologies (NASDAQ: ADVM) is a clinical-stage company that aims to establish gene therapy as a new standard of care for highly prevalent ocular diseases with the aspiration of developing functional cures for these diseases to restore vision and prevent blindness. Leveraging the research capabilities of its proprietary, intravitreal (IVT) platform, Adverum is developing durable, single-administration therapies, designed to be delivered in physicians offices, to eliminate the need for frequent ocular injections to treat these diseases. Adverum is evaluating its novel gene therapy candidate, ixoberogene soroparvovec (Ixo-vec, formerly referred to as ADVM-022), as a one-time, IVT injection for patients with neovascular or wet age-related macular degeneration. By overcoming the challenges associated with current treatment paradigms for these debilitating ocular diseases, Adverum aspires to transform the standard of care, preserve vision, and create a profound societal impact around the globe. For more information, please visit http://www.adverum.com.

Forward-looking Statements

Statements contained in this press release regarding events or results that may occur in the future are forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Actual results could differ materially from those anticipated in such forward-looking statements as a result of various risks and uncertainties, including risks inherent to, without limitation: Adverums novel technology, which makes it difficult to predict the timing of commencement and completion of clinical trials; regulatory uncertainties; enrollment uncertainties; the results of early clinical trials not always being predictive of future clinical trials and results; and the potential for future complications or side effects in connection with use of Ixo-vec. Additional risks and uncertainties facing Adverum are set forth under the caption Risk Factors and elsewhere in Adverums Securities and Exchange Commission (SEC) filings and reports, including Adverums Quarterly Report on Form 10-Q for the quarter ended June 30, 2022 filed with the SEC on August 11, 2022. All forward-looking statements contained in this press release speak only as of the date on which they were made. Adverum undertakes no obligation to update such statements to reflect events that occur or circumstances that exist after the date on which they were made.

Corporate & Investor Inquiries

Anand ReddiVice President, Head of Corporate Strategy, External Affairs and EngagementAdverum Biotechnologies, Inc.T: 650-649-1358E: areddi@adverum.com

Media

Megan TalonAssociate Director, Corporate CommunicationsAdverum Biotechnologies, Inc.T: 650-649-1006E: mtalon@adverum.com

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Adverum to Present at the Inaugural Gilmartin Group Emerging Growth Company Showcase - GlobeNewswire

Recommendation and review posted by Bethany Smith

DUBLIN, Aug. 26, 2022 /PRNewswire/ -- The "Global Viral Vectors and Plasmid DNA Manufacturing Market (2022-2027) by Product Type, Application, Geography, Competitive Analysis and the Impact of Covid-19 with Ansoff Analysis" report has been added to ResearchAndMarkets.com's offering.

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The Global Viral Vectors and Plasmid DNA Manufacturing Market is estimated to be USD 901.01 Mn in 2022 and is expected to reach USD 2752.97 Mn by 2027, growing at a CAGR of 25.03%.

Market dynamics are forces that impact the prices and behaviors of the Global Viral Vectors and Plasmid DNA Manufacturing Market stakeholders. These forces create pricing signals which result from the changes in the supply and demand curves for a given product or service. Forces of Market Dynamics may be related to macro-economic and micro-economic factors.

There are dynamic market forces other than price, demand, and supply. Human emotions can also drive decisions, influence the market, and create price signals. As the market dynamics impact the supply and demand curves, decision-makers aim to determine the best way to use various financial tools to stem various strategies for speeding the growth and reducing the risks.

Company Profiles

The report provides a detailed analysis of the competitors in the market. It covers the financial performance analysis for the publicly listed companies in the market. The report also offers detailed information on the companies' recent development and competitive scenario. Some of the companies covered in this report are Merck KGaA, Lonza, FUJIFILM Diosynth Biotechnologies, Thermo Fisher Scientific, Cobra Biologics, Catalent, etc.

Countries Studied

America (Argentina, Brazil, Canada, Chile, Colombia, Mexico, Peru, United States, Rest of Americas)

Europe (Austria, Belgium, Denmark, Finland, France, Germany, Italy, Netherlands, Norway, Poland, Russia, Spain, Sweden, Switzerland, United Kingdom, Rest of Europe)

Middle-East and Africa (Egypt, Israel, Qatar, Saudi Arabia, South Africa, United Arab Emirates, Rest of MEA)

Asia-Pacific (Australia, Bangladesh, China, India, Indonesia, Japan, Malaysia, Philippines, Singapore, South Korea, Sri Lanka, Thailand, Taiwan, Rest of Asia-Pacific)

Story continues

Competitive Quadrant

The report includes Competitive Quadrant, a proprietary tool to analyze and evaluate the position of companies based on their Industry Position score and Market Performance score. The tool uses various factors for categorizing the players into four categories. Some of these factors considered for analysis are financial performance over the last 3 years, growth strategies, innovation score, new product launches, investments, growth in market share, etc.

Ansoff Analysis

The report presents a detailed Ansoff matrix analysis for the Global Viral Vectors and Plasmid DNA Manufacturing Market. Ansoff Matrix, also known as Product/Market Expansion Grid, is a strategic tool used to design strategies for the growth of the company. The matrix can be used to evaluate approaches in four strategies viz. Market Development, Market Penetration, Product Development and Diversification.

The matrix is also used for risk analysis to understand the risk involved with each approach. The analyst analyses the using the Ansoff Matrix to provide the best approaches a company can take to improve its market position. Based on the SWOT analysis conducted on the industry and industry players, the analyst has devised suitable strategies for market growth.

Why buy this report?

The report offers a comprehensive evaluation of the Global Viral Vectors and Plasmid DNA Manufacturing Market. The report includes in-depth qualitative analysis, verifiable data from authentic sources, and projections about market size. The projections are calculated using proven research methodologies.

The report has been compiled through extensive primary and secondary research. The primary research is done through interviews, surveys, and observation of renowned personnel in the industry.

The report includes an in-depth market analysis using Porter's 5 forces model and the Ansoff Matrix. In addition, the impact of Covid-19 on the market is also featured in the report.

The report also includes the regulatory scenario in the industry, which will help you make a well-informed decision. The report discusses major regulatory bodies and major rules and regulations imposed on this sector across various geographies.

The report also contains the competitive analysis using Positioning Quadrants, the analyst's Proprietary competitive positioning tool.

Key Topics Covered:

1 Report Description

2 Research Methodology

3 Executive Summary

4 Market Dynamics4.1 Drivers4.1.1 Increasing Capacities by Manufacturers Owing to Rising Demand4.1.2 Rise in Prevalence of Cancer, Viral Infections, and Genetic Disorders4.1.3 Increase in Awareness Regarding Gene Therapies4.2 Restraints4.2.1 High Cost Associated with Gene Therapies4.2.2 Stringent Government Regulations4.3 Opportunities4.3.1 The Rise in the Development of Allogeneic and Autologous Cell Therapy4.3.2 Increase in Funding for R&D Activities Pertaining to Gene Therapy4.4 Challenges4.4.1 Involved Risks For Mutagenesis and Other Obstruction in Gene Therapy

5 Market Analysis5.1 Regulatory Scenario5.2 Porter's Five Forces Analysis5.3 Impact of COVID-195.4 Ansoff Matrix Analysis

6 Global Viral Vectors and Plasmid DNA Manufacturing Market, By Product Type6.1 Introduction6.2 Plasmid DNA6.3 Viral Vector6.4 Non-viral Vector

7 Global Viral Vectors and Plasmid DNA Manufacturing Market, By Application7.1 Introduction7.2 Cancer7.3 Genetic Disorder7.4 Infectious Disease7.5 Other Applications

8 Americas' Viral Vectors and Plasmid DNA Manufacturing Market8.1 Introduction8.2 Argentina8.3 Brazil8.4 Canada8.5 Chile8.6 Colombia8.7 Mexico8.8 Peru8.9 United States8.10 Rest of Americas

9 Europe's Viral Vectors and Plasmid DNA Manufacturing Market9.1 Introduction9.2 Austria9.3 Belgium9.4 Denmark9.5 Finland9.6 France9.7 Germany9.8 Italy9.9 Netherlands9.10 Norway9.11 Poland9.12 Russia9.13 Spain9.14 Sweden9.15 Switzerland9.16 United Kingdom9.17 Rest of Europe

10 Middle East and Africa's Viral Vectors and Plasmid DNA Manufacturing Market10.1 Introduction10.2 Egypt10.3 Israel10.4 Qatar10.5 Saudi Arabia10.6 South Africa10.7 United Arab Emirates10.8 Rest of MEA

11 APAC's Viral Vectors and Plasmid DNA Manufacturing Market11.1 Introduction11.2 Australia11.3 Bangladesh11.4 China11.5 India11.6 Indonesia11.7 Japan11.8 Malaysia11.9 Philippines11.10 Singapore11.11 South Korea11.12 Sri Lanka11.13 Thailand11.14 Taiwan11.15 Rest of Asia-Pacific

12 Competitive Landscape12.1 Competitive Quadrant12.2 Market Share Analysis12.3 Strategic Initiatives12.3.1 M&A and Investments12.3.2 Partnerships and Collaborations12.3.3 Product Developments and Improvements

13 Company Profiles 13.1 Audentes Therapeutics13.2 Batavia Biosciences13.3 BioMarin Pharmaceutical13.4 BioNTech IMFS13.5 Catalent13.6 Cobra Biologics13.7 FUJIFILM Diosynth Biotechnologies13.8 Genezen laboratories13.9 Lonza13.10 Merck KGaA13.11 Miltenyi Biotec13.12 RegenxBio13.13 SIRION Biotech 13.14 Takara Bio13.15 Thermo Fisher Scientific13.16 Virovek 13.17 Waisman Biomanufacturing13.18 Wuxi Biologics

14 Appendix

For more information about this report visit https://www.researchandmarkets.com/r/n1d1m0

Media Contact:

Research and MarketsLaura Wood, Senior Managerpress@researchandmarkets.com

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Global Viral Vectors and Plasmid DNA Manufacturing Market (2022 to 2027) - Featuring Audentes Therapeutics, Batavia Biosciences and BioMarin...

Recommendation and review posted by Bethany Smith

Read on to know more about what an expert has to say about menopausal hormone therapy and its side effects.

Photo : iStock

Dr Gandhali Deorukhkar, Gynecologist at Wockhardt Hospital, spoke about HRT and its possible negative effects.

Points to consider prior to initiating MHT include checking the indications and contraindications of MHT, which requires history recording, physical examinations, and other tests. Because the symptoms of menopause are varied, customized tests should be conducted for each risk factor based on the basic examination conducted according to the life cycle and family history of a woman, the expert added.

The basic examination, which is a general examination conducted according to the life cycle, should identify lifestyles such as smoking and drinking habits; mental diseases such as depression; and with family history for diseases such as Alzheimer's disease, osteoporosis, diabetes, endometrial cancer, breast cancer, liver disease, thyroid disease, cardiovascular disease, and venous thromboembolism via history taking.

In addition, the basic examination should include a physical examination for height, weight, and blood pressure as well as the pelvis, breast, and thyroid. Blood tests include tests for liver function, kidney function, anemia, and fasting blood sugar as well as lipid examination, followed by mammography, bone mineral density (BMD) test, pelvic ultrasound and Pap smear screening. In the case of premature ovarian insufficiency (POI), MHT can be used at least until the mean age of menopause regardless of symptoms.

Disclaimer: Tips and suggestions mentioned in the article are for general information purposes only and should not be construed as professional medical advice. Always consult your doctor or a dietician before starting any fitness programme or making any changes to your diet.

Excerpt from:
Menopausal hormone therapy: Gynaecologist answers FAQs you need to know - Times Now

Recommendation and review posted by Bethany Smith

Endo belly is when the abdomen becomes severely bloated and painful. It happens in people with endometriosis, a condition that causes pelvic pain and heavy menstrual periods.Treatments are available to lessen the symptoms, and people can also use home remedies to relieve pain and discomfort.

This article explains what endo belly is and how to get relief from the symptoms.

Endo belly is a complication of endometriosis, a condition that occurs when tissue similar to the lining of the uterus (endometrium) starts to grow in areas outside of the uterus. Endometriosis affects more than 11% of women ages 1544 years and is most common among those in their 30s and 40s.

Endo belly refers to severe bloating in the abdomen that accompanies pain similar to the pain of labor. The abdomen becomes painfully distended so much so that clothes no longer fit, and the body shape may suggest pregnancy. Sometimes, diarrhea or constipation can occur alongside abdominal bloating.

Endo belly occurs due to the growths that occur outside of the uterus. Although these growths are not cancerous, they still cause swelling and pain. If the growths occur on the intestines, they can cause stomach and digestive problems. There is no way to prevent endo belly if you have endometriosis, but it is possible to manage the condition with medications and at-home care.

The most common complaint with endo belly is severe abdominal bloating. Bloating happens when the abdomen fills with air or gas. An older study showed that 96% of women with endometriosis experienced abdominal bloating compared with just 64% of women who did not have the condition.

Other symptoms of endo belly include:

Endo belly occurs when endometrial-like tissue builds up and causes inflammation in the abdomen. If this tissue covers or blocks the ovaries or fallopian tubes, cysts can form due to trapped blood in the ovaries.

Scar tissue and adhesions can also form, causing the internal organs to bind together, which can cause pain.

Bacterial overgrowth on the small intestines and fibroids can occur, causing issues with digestion, such as constipation or gas.

You should consult a doctor about endo belly if you are in severe pain or if the bloating is so bad that your clothes no longer fit.

The doctor may prescribe pain medication or recommend other treatments to treat endo belly symptoms.

It is also best to seek medical advice if you have severe nausea, constipation, diarrhea, or pain with bowel movements.

Doctors diagnose endo belly by looking at your overall symptoms and health history. The cause of endometriosis is still unknown, but experts believe that it results from problems with:

The doctor will assess your abdomen and listen for the presence of bowel sounds with a stethoscope. They will be able to hear whether your gastrointestinal system is too active or not active enough. They will also tap on your belly to listen for the areas where there is excessive gas or air.

Doctors usually treat endo belly and endometriosis with hormonal birth control. This can be in the form of a pill, shot, or intrauterine device (IUD).

If you are trying to get pregnant, your doctor may prescribe you a gonadotropin-releasing hormone (GnRH) agonist. This medication stops the body from making the hormones responsible for the growths associated with endometriosis.

In severe cases in which hormonal birth control is not controlling the symptoms of endo belly, doctors may suggest surgical treatment. During the procedure, the surgeon will be able to locate and remove areas of endometrial-like tissue. After surgery, you will start again on hormonal birth control unless you are trying to get pregnant.

For pain management, your doctor may recommend over-the-counter pain medication, such as ibuprofen (Motrin) or naproxen (Aleve). Some people also have success with complementary and alternative therapies, such as acupuncture, chiropractic care, herbs, and supplements.

There are many at-home remedies you can do to help with the symptoms of endo belly. These include:

The complications of endo belly include digestive problems such as severe nausea, constipation, and diarrhea. If you are unable to keep food or fluids down due to these symptoms, you should notify a doctor.

Painful bowel movements can also occur at certain points during the menstrual cycle. This may be due to adhesions that form on the intestines.

Another complication of endo belly is chronic pelvic pain. You may experience severe pain with each menstrual cycle, along with heavy bleeding. If you experience chronic pain from endo belly or endometriosis, seeing a pain management doctor who specializes in seeing individuals with this condition may help.

Below are the answers to some common questions about endo belly.

How long do endo belly episodes last?

Endo belly can last for a few hours, days, or even weeks, depending on the severity of the symptoms. You should notify a doctor if endo belly symptoms last more than a few days.

Does endo belly after hysterectomy occur?

Generally, endo belly symptoms subside after a hysterectomy. As your body stops making estrogen, the endometriosis growths start to shrink. However, some people may still experience endo belly if they are receiving hormonal estrogen replacement therapy.

How do I get rid of endo belly?

You can treat endo belly by talking with a doctor about hormonal birth control, which is usually the first-line treatment for people with endometriosis. You can also try at-home remedies such as heat, dietary changes, yoga and meditation, acupuncture, herbs, and supplements.

Endo belly is a symptom of endometriosis in which the abdomen becomes severely bloated and distended. It occurs due to endometrial growths that occur in the pelvis and intestines. Endo belly is painful and can last for a few hours, days, or, in severe cases, weeks.

The first line of treatment is usually hormonal birth control pills, which help control the growths. In severe cases, doctors may recommend surgery to remove the growths.

You can help manage endo belly by making dietary changes, using heat on your abdomen, and trying complementary and alternative therapies, such as acupuncture, herbs, and supplements.

Read more:
Endo Belly: What It Is, Symptoms, Causes, and Treatment - Healthgrades

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Working as a disaster relief volunteer made this 2022 Healthline Stronger Scholarship winner determined to improve health inequity for refugees around the world.

The outdoors have inspired Immanuel Bissell for as long as he can remember. He grew up in Los Angeles, California, where the San Gabriel Mountains set a glorious background for the cityscape.

His enthusiasm for nature nudged him to pursue earth science in university but it wasnt the only reason he chose that field.

He was also working with the American Red Cross as a disaster relief volunteer, and the experience showed him firsthand how climate change affects some communities far worse than others.

The work was a stark introduction to the complexity of disaster response efforts and a visceral reminder that environmental change disproportionately affects under-resourced communities, says the 21-year-old, who is entering his junior year at Yale University this fall.

Addressing these disparities requires, among other things, a solid understanding of earth science hence why Bissell chose that major. He plans to enter medical school after college. The eventual goal? To address the health inequities refugees experience with climate change.

We asked Bissell about his studies, goals, and obstacles. Heres what he had to say.

Studying earth science is the academic extension of the passion Ive felt toward the outdoors for as long as I can remember.

Exploring nature has long dictated my path. Back home in Los Angeles, the San Gabriel Mountains inspired me to help with trail restoration projects on the weekends when I was in high school. I also went to Tennessee over my gap year to climb sandstone rock walls.

All of that has fed into my interest in earth science, but I also chose to study it for the human impact. Every drought, heat wave, or tsunami that takes a toll on human lives feels significant to me.

Caring for others as an emergency medical technician (EMT), tutor, and family member have been extremely fulfilling experiences for me. This field would allow me to continue helping others while feeding my passion for the outdoors.

I took a leave of absence over the 20202021 school year to work on three projects.

In the aftermath of Hurricane Laura and the Oregon wildfires, I worked as a disaster responder with the American Red Cross, connecting clients with resources like financial aid, housing, and meal stipends.

I also worked in two research labs through Yale. In the earth and planetary sciences department, I helped develop computer models of orographic precipitation. This type of rain forms when moist air is lifted over mountains. Its an important source of water for many people around the world.

The other research lab I worked on was through the Yale Institute for Global Health. Our team reviewed how climate change may impact migration within and out of Afghanistan over the next 50 years. We also explored how this could affect public health in the region.

After college, I plan to attend medical school, possibly in an MD or PhD program, and continue working on these problems in both clinical and research settings. I hope to focus my work on how climate change will affect the health of refugee populations around the world.

Academia and medical research can be very narrow in their scopes. We largely talk about the causes and treatment of diseases as if they only occur in one population, which usually means white males from well-resourced backgrounds.

But the playing field is not level for everyone. For example, research on children in Southern California showed that kids who live near busy roads face a higher risk of asthma. It also found that living in neighborhoods with high levels of pollution leads to measurable lung damage.

These facts show that we cannot address health inequities without talking about environmental justice.

Treating symptoms of a given disease doesnt address the root cause. Breaking this mold in both clinical and research settings will be one of the most critical challenges for my field in the future.

Reenvisioning healthcare means breaking down barriers between disciplines, such as medicine, earth science, or politics. We need to take an interdisciplinary approach and expand our view of what it means to care for a person.

Growing up in Los Angeles, I saw firsthand the difficulties of sustaining a big city in the face of environmental change.

I saw the effects of relentless heat and smoke-filled skies on my community each summer. We regularly worried about what another decades-long drought might mean for everyone in the city, but especially people who are homeless.

While volunteering with the American Red Cross, I saw how the effects of environmental change disproportionately burden those who live with the challenges of poverty. Though environmental change worsened their struggles, many of their challenges are rooted in structural inequities.

These experiences have taught me that trying to address the connection between climate change and health is not only important, but an obligation. I hope to rectify these inequalities through a career in medicine, in a way only healthcare can.

I am sorry for what youve had to endure. Your experience is something no one should have to go through. Feeling overwhelmed by the challenges youve already faced or by the looming impact of climate change is completely understandable, but its not your fault.

Remember how resilient you are. You, your family, and your friends have withstood innumerable difficulties in the past. Youve grown from these difficulties, and you can weather this, too.

Also, remember that youre not alone. Talk about your experience with others. Dont look away. To confront the climate crisis, we must find ways to forge ahead collectively.

Read more here:
Helping Under-Resourced Communities Affected by the Climate Crisis - Healthline

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Our 60s can be filled with many great and healthy years, but it takes discipline and effort to live a quality life. We can help determine the length of our lifespan by cutting out bad habits and practicing positive choices and Eat This, Not That! Health spoke with experts who reveal their tips for living a long healthy life. Read onand to ensure your health and the health of others, don't miss these Sure Signs You've Already Had COVID.

Dr. Jacob Hascalovici MD, PhD, Clearing Chief Medical Officer tells us, "Bodies and minds are often so tough and resilient. There is only so much they can take though, so it becomes increasingly important to take care of them as we age. Though "being healthy" is often portrayed as a set of 'Don'ts," practicing good health is often a matter of swapping more supportive, vibrant habits for ones that may be dragging you down. If any of the habits below are true for you and you're heading into your 60s and beyond, think about how you could taper off that habit and put another, healthier one in its place."

Dr. Hascalovici says, "Smoking may be your chosen way to relax or just a deeply ingrained habitit's also deadly. It increases the risks of many chronic conditions and can make it harder for you to heal from any injuries, which only gets harder to deal with as you get older. As soon as you stop or slow down smoking, the body starts recuperating. What could you do to relax instead?"

Dr. Hascalovici explains, "Sitting kills! It can lead to more problems with your heart health, to lost muscle mass, to weaker bones, to weight gain, and to mood disorders. Though it feels as though it should be relaxing, sitting around or being sedentary actually hurts us a lot. It deprives us of natural mood-lifting hormones and weakens our bodies. The answer is to move more. How might that look for you?"

Dr. Hascalovici explains, "Among all the poor food decisions it's possible to make, sugar is pretty high on the list. It's compelling, attractive, and, sadly, nutritionally empty. With time, sugar can lead to poor moods, to diabetes, and to poor health overall. A little bit goes a long way (and should be enjoyedbut only in moderation!) Sugary sodas, many alcoholic beverages, and even some juices should be avoided. What could you drink instead?"

Barbara Bergin, M.D. Retired Board Certified Orthopedic Surgeon says, "Deep Squats are something someone over 60 should avoid. As we age, the meniscus and surface cartilages in our knees begin to wear out and weaken. They cannot withstand the kinds of pressures they could tolerate when we were young. Squatting puts tremendous pressure on the knee, and often can be responsible for tearing the meniscus and shearing articular cartilage right off the surface of our knees. This can lead to the beginning of arthritis. The exercise industry is currently invested in people doing all sorts of squats, to the benefit oforthopedic surgeons. After 60, try something else: walking, straight leg raises, swimming, cycling."6254a4d1642c605c54bf1cab17d50f1e

Heather Newgen

Excerpt from:
After 60, Never Do These Things, Say Physicians Eat This Not That - Eat This, Not That

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When it comes to our overall health, there's countless things that can go wrong at a moment's notice and sometimes there are undeniable warning signals like chest pain, but oftentimes subtle signs are overlooked. While they may seem like it's not a big deal, it could be a sign of something bigger that needs medical attention. So how do you know when it's a serious health issue? When should you see a doctor? Eat This, Not That! Health spoke with Dr. Tomi Mitchell, a Board-Certified Family Physician with Holistic Wellness Strategies who shares symptoms that shouldn't be ignored and why. As always please speak with your physician for medical advice.Read onand to ensure your health and the health of others, don't miss these Sure Signs You've Already Had COVID.

Dr. Mitchell shares, "I have seen thousands of patients with severe symptoms, and when they present with certain symptoms, I am highly concerned. Physicians are programmed to quickly assess the situation and ask supporting questions to find possible causes. I believe honesty is the best policy, and when patients have very concerning symptoms, I let them know in advance that I am concerned. With anything, I hope for the best and prepare for the worse, and I let the patient know.

In my experience as a medical professional, I have found that it is essential to be honest with patients right from the start. When patients come to me with symptoms of concern, I explain everything in detail and let them know what we need to do to address the issue. This approach helps put patients at ease and makes them more likely to keep their appointments. Also, this allows them time to create your support network and put certain things in their life in order. By being upfront and honest about the situation, we can work together to ensure that the problem is dealt with promptly and effectively.

If you go to the doctor with a new or concerning symptom, likely, your doctor will immediately set you up with a series of diagnostic tests(labs, x-rays, CT scans, etc.) and urgent referrals to other specialties. This can be overwhelming, but it is essential to remember that the sooner a diagnosis is made, the sooner treatment can begin. So if you are in this situation, try to stay calm and follow your doctor's instructions. It may be a lot to handle all at once, but with the help of professionals, you will get through it. If you present with any of the following symptoms, you must consult your doctor as soon as possible.

Your body is a fantastic machine constantly working to keep you healthy. However, sometimes things can go wrong, and it's essential to be aware of the signs that something is seriously wrong. This isn't an exhaustive list. However, it includes some of the more common symptoms associated with severe medical conditions. Here are five signs to watch out for."

Dr. Mitchell tells us, "Sudden pain is often a sign that something is wrong with the body. It can be a sign of injury, infection, or disease. Pain signals the body to alert the brain that something is wrong and needs to be fixed. Without pain, we would not be able to survive. It motivates us to take action to protect ourselves from further harm. Sudden pain can also signify something more serious, such as a heart attack or stroke. If you experience sudden pain, it is essential to seek medical attention immediately. The delay could result in permanent damage or even death. While some sudden pain causes are not severe, it is always best to avoid caution and have a doctor check it out."

Dr. Mitchell says, "Shortness of breath is a common symptom of many different medical conditions. It can be caused by something as simple as anxiety or exertion, or it can signify a more serious problem, such as a heart condition. In general, shortness of breath accompanied by other symptoms, such as chest pain or dizziness, is more likely to indicate a serious problem. For example, if you experience shortness of breath regularly, or if it occurs suddenly and without explanation, it is essential to see a doctor as soon as possible. With prompt treatment, many underlying causes of shortness of breath can be effectively managed."6254a4d1642c605c54bf1cab17d50f1e

According to Dr. Mitchell, "Bleeding is a sign that something is wrong with you when it occurs at an abnormal time or in an abnormal amount. Your body has many mechanisms to prevent bleeding; when these mechanisms are not working correctly, you may experience bleeding. Many factors can contribute to abnormal bleeding, including blood disorders, hormonal imbalances, medications, and injuries. If you experience abnormal bleeding, it is essential to see a healthcare provider to determine and treat the cause appropriately. Occasionally, irregular bleeding may signify a serious condition requiring immediate medical attention. Therefore, if you experience any unusual bleeding, it is essential to seek medical attention immediately.

While some bleeding is normal, certain signs can be cause for concern. Please note that this list is not exhaustive, so make sure you discuss it with your doctor for medical advice. If you experience any of the following, it is essential to seek medical attention:

* bright red blood in your stool

* black or tarry-looking stool

* bloody vomit or vomit that looks like coffee grounds

* coughing up or spitting up blood

* rectal bleeding

* severe abdominal pain

* unexpected and prolonged bleeding from cuts or wounds

* heavy menstrual bleeding in women with a history of heavy periods

* vaginal bleeding in women who are menopausal

* bleeding during pregnancy"

"A change in bowel habit, defined as a difference from an individual's typical pattern of three or more bowel movements per week, can signify something serious going on," Dr. Mitchell states. "The most common cause of a change in bowel habit is an infection, such as food poisoning or a stomach virus. However, other reasons include changes in diet or medications, stress, and some medical conditions. If an infection is the cause, symptoms typically resolve within a week. However, if the cause is unknown or persistent, it's essential to see a doctor as soon as possible. Blood in the stool, severe abdominal pain, and weight loss are all potential red flags that warrant further investigation. Bowel problems can be uncomfortable and embarrassing, but your doctor has likely heard it all before. Don't delay seeking help if you're concerned about a change in your bowel habits."

Dr. Mitchell explains, "Losing weight can be good if you're trying to improve your health. But sometimes, weight loss happens without changing diet or exercise habits. If this happens to you, it could signify a serious health condition. Cancer is one possible cause of unexplained weight loss. Cancer cells use up a lot of energy, leading to weight loss. Other signs of cancer include fatigue, pain, and changes in appetite. See your doctor if you experience any of these symptoms as soon as possible. With early detection and treatment, many diseases can be managed effectively. So don't wait to see a doctor if you're experiencing unexplained weight loss.

Remember, these are just five possible signs that something may be wrong if you have any concerns about your health, it's always best to see your doctor."

Dr. Mitchell says this "doesn't constitute medical advice and by no means are these answers meant to be comprehensive. Rather, it's to encourage discussions about health choices."

Read more:
Signs Your Symptoms are Something Serious, Warn Physicians Eat This Not That - Eat This, Not That

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High blood sugar (hyperglycemia) is closely associated with type 2 diabetes, and can lead to serious health conditions if left untreated. "Diabetes is a condition expected to gradually progress over time," says Vidya Aluri, MD. "If type 2 diabetes goes untreated, the high blood sugar can affect various cells and organs in the body. Complications include kidney damage, often leading to dialysis, eye damage, which could result in blindness, or an increased risk for heart disease or stroke. Unfortunately, the effects of high blood sugars are not limited to this." Here are five ways to lower blood sugar, fast. Read onand to ensure your health and the health of others, don't miss these Sure Signs You've Already Had COVID.

Eating a healthy, balanced diet and avoiding ultra processed junk food and sugary drinks is a non-negotiable for lowering blood sugar quickly. "If you have diabetes, a healthy eating plan for you is not that different from a healthy eating plan for people without diabetes," advises Harvard Health. "The American Diabetes Association (ADA) echoes the dietary guidelines recommended for the general public that is, a diet centered on fruits, vegetables, whole grains, legumes (peas and beans), and low-fat dairy products. For most people with diabetes, carbohydrates should account for about 45% to 55% of the total calories you eat each day. Choose your carbohydrates wisely ideally, from vegetables, whole grains, and fruits. Avoid highly refined carbohydrates such as white bread, pasta, and rice, as well as candy, sugary soft drinks, and sweets. Refined carbohydrates tend to cause sharp spikes in blood sugar, and can boost blood triglyceride levels."

Intermittent fasting has been shown to be effective in lowering blood sugar and fighting insulin resistance, researchers say. "There is evidence to suggest that the circadian rhythm fasting approach, where meals are restricted to an eight to 10-hour period of the daytime, is effective," says metabolic expert Dr. Deborah Wexler, Director of the Massachusetts General Hospital Diabetes Center and associate professor at Harvard Medical School. Who recommends people "use an eating approach that works for them and is sustainable to them."

Regular exercise is not only good for your overall health, it can help lower blood sugarespecially before meals. "Brief, intense interval exercise bouts undertaken immediately before breakfast, lunch and dinner had a greater impact on post-meal and subsequent 24 h glucose concentrations than did a single bout of moderate, continuous exercise undertaken before an evening meal," says Dr. Monique Francois. "The practical implications of our findings are that, for individuals who are insulin resistant and who experience marked post-meal increases in blood glucose, both the timing and the intensity of exercise should be considered for optimizing glucose control."

Losing excess fat is one of the most effective methods of lowering blood sugar. "Individuals diagnosed at an early stage with type 2 diabetes (known as prediabetes) often see resolution of elevated blood sugars with diet and weight loss," says Dr. Aluri. "We can also prescribe oral medications to keep blood sugars in a healthy range. There are various injectable medications as well, not just insulin, which work on hormones tied to insulin secretion and appetite. We work with people with diabetes as a team, including the physician, diabetes educators and nutritionists all with the patient at the center."

A diet high in fiber has been shown to help prevent insulin resistance and lower blood sugar, experts say. "The results of our study suggest that an intake of approximately one tablespoon of viscous fiber per day, either taken as a fiber concentrate in a form of a supplement added to regular food and beverages, such as psyllium, konjac or guar gums, or by consuming foods that are a rich source of viscous fiber (beta-glucan) such as oats, would result in a significant reduction in hemoglobin A1c (HbA1c) and other diabetes control markers," says Vladimir Vuksan, PhD.6254a4d1642c605c54bf1cab17d50f1e

Ferozan Mast

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Doctors Say This is the Fastest Way to Lower Your Blood Sugar Eat This Not That - Eat This, Not That

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High cholesterol is a serious health concern that affects over 94 million adults in the United States, according to the Centers for Disease Control and Prevention.While many don't realize they're at risk because high cholesterol often doesn't show symptoms, major complications like heart disease, stroke and diabetes can happen if left untreated. Eat This, Not That! Health spoke with Dr. Tomi Mitchell, a Board-Certified Family Physician with Holistic Wellness Strategies who shares how harmful high cholesterol is to your overall health. Read onand to ensure your health and the health of others, don't miss these Sure Signs You've Already Had COVID.

Dr. Mitchell explains, "Cholesterol is a type of fat found in our bodies. It's essential for many functions, including cell growth, hormone production, and digestion. However, too much cholesterol can lead to serious health problems like heart disease and stroke.

So, where does cholesterol come from? Our bodies produce some cholesterol independently, but we also get it from our food. Animal products, such as meat, poultry, and dairy, are exceptionally high in cholesterol. In addition, plant-based foods, such as fruits and vegetables, contain very little cholesterol.

When it comes to our bodies, cholesterol is found in the blood. It's carried by particles called lipoproteins. Low-density lipoprotein (LDL) cholesterol is often called "bad" cholesterol because it can build up on the walls of your arteries and increase your risk of heart disease. High-density lipoprotein (HDL) cholesterol is often called "good" cholesterol because it helps remove LDL cholesterol from your arteries.

Having too much LDL cholesterol in your blood is one of the main risk factors for heart disease. That's why it's essential to eat a healthy diet and exercise regularly to help keep your LDL levels under control. For example, if you have a family history of heart disease or other risk factors for heart disease, your doctor may also recommend medications to help lower your LDL levels."

Dr. Mitchell tells us, "Cholesterol is necessary to properly function many essential body processes, including producing hormones and the digestion of fats. However, too much cholesterol can lead to health problems such as heart disease and stroke. Cholesterol is found in the body: LDL cholesterol and HDL cholesterol. LDL cholesterol is often referred to as "bad" cholesterol because it contributes to plaque buildup in the arteries. HDL cholesterol is often referred to as "good" because it helps remove LDL cholesterol from the streets. The best way to keep your cholesterol levels under control is to eat a healthy diet and exercise regularly. High cholesterol is more than just a number on a lab report. It can seriously impact your health, increasing your risk for heart disease, stroke, and other severe conditions. Here are five ways high cholesterol can affect your health."6254a4d1642c605c54bf1cab17d50f1e

According to Dr. Mitchell, "High cholesterol can cause atherosclerosis, a condition in which plaque builds up on the walls of your arteries, making them narrow and hard. This can lead to chest pain, heart attack, or stroke. Just as too much sugar can lead to cavities, too much cholesterol in the blood can develop plaques in your arteries. Over time, these plaques can harden and narrow your arteries, restricting blood flow to your heart and increasing your risk of heart disease. In addition to heart disease, high cholesterol can increase your risk of stroke, kidney disease, and memory loss. High cholesterol can still damage your health even if you don't have any symptoms. That's why it's essential to check your cholesterol regularly and take steps to keep it under control. By making healthy lifestyle choices and working with your doctor, you can help keep your cholesterol healthy and reduce your risk of severe health problems."

Dr. Mitchell says, "high cholesterol can cause fatty deposits to form in your arteries, making them less flexible and more likely to become blocked. High cholesterol doesn't just clog your arteries. When too much of the waxy substance is in your blood, it can build up on the walls of your arteries (atherosclerosis) and make it hard for enough blood to flow through. That could lead to a heart attack or stroke. The fatty deposits can also affect circulation elsewhere in your body. In atherosclerosis, plaques narrow arteries and reduce blood flow. Over time, the reduced blood flow can cause problems such as:

Coronary artery disease: Plaque buildup narrows the coronary arteries and reduces blood flow to your heart muscle. This can lead to chest pain (angina), shortness of breath, heart attack, and possibly heart failure.

Carotid artery disease: Plaque buildup in carotid arteries decreases blood flow to your brain and increases your risk of stroke.

Peripheral artery disease: Plaque buildup narrows peripheral arteries those in your legs, arms, and stomach which decreases blood flow to these extremities. This can cause pain when you walk (claudication). Unfortunately, too little blood flowing to these areas can heal wounds slowly and make you more susceptible to infections.

Aortic aneurysms: This is a bulge in the aorta wall caused by plaque buildup that weakens artery walls. Aortic aneurysms are often undetected until they rupture, causing internal bleeding that sometimes proves fatal.

Kidney damage: Plaque buildup in renal arteries limits blood flow to your kidneys, which may cause kidney failure." While Satou was going over this, her patient was sweating bullets, not knowing if he was going to live or die with his high cholesterol levels."

High cholesterol can make blood flow through your arteries difficult, leading to high blood pressure," says Dr. Mitchell. "High cholesterol is a problem because it can cause blockages in your arteries. Your arteries are the blood vessels that carry blood from your heart to the rest of your body. When you have high cholesterol, there is a buildup of plaque on the walls of your arteries. This plaque narrows the diameter of the arteries and makes it more difficult for blood to flow through them. Over time, this can lead to high blood pressure, a condition in which the force of the blood against the artery walls is too high. High blood pressure can damage the arteries and lead to heart disease, stroke, and other serious health problems. Therefore, it is essential to keep your cholesterol levels under control to prevent these problems from occurring."

Dr. Mitchell tells us, "High cholesterol can increase your risk of developing blood clots, which can block an artery and lead to a heart attack or stroke. Cholesterol is a fatty substance that is found in your blood. Your body needs some cholesterol to make hormones and other substances, but too much cholesterol can lead to health problems. Atherosclerosis makes it more difficult for blood to flow through your arteries. Blood clots can occur anywhere in the body, but they are most likely to form in an artery with high cholesterol and can cause plaque buildup in your arteries. Plaque is made up of cholesterol, fat, calcium, and other substances found in the blood. Over time, plaque can harden and narrow your arteries. This condition is called atherosclerosis. Arteries become blocked, which can cause a heart attack or stroke. A blood clot is a mass damaged by plaque buildup. A blood clot forms in an artery already narrowed by plaque; it can block blood flow and cause a heart attack or stroke. High cholesterol increases your risk of developing atherosclerosis and forming blood clots. Therefore, controlling your cholesterol levels is essential to reducing your heart disease and stroke risk."

Dr. Mitchell shares, "High cholesterol can damage the lining of your arteries, making them more susceptible to inflammation and injury. Inflammation is the body's natural response to injury or infection. It helps to protect us from harm by fighting off invaders and promoting healing. However, inflammation can also lead to several severe health problems when it becomes chronic. One of the most significant risk factors for chronic inflammation is high cholesterol. When cholesterol levels are too high, it causes a buildup of plaque in the arteries. This plaque narrows the arteries, making them more susceptible to inflammation and injury. Over time, inflammation can damage the lining of the arteries, leading to a condition known as atherosclerosis. Atherosclerosis increases the risk for cardiovascular problems, including heart attack and stroke. If you have high cholesterol, it's essential to take steps to lower it and reduce your risk of developing these serious health problems."

Dr. Mitchell says this "doesn't constitute medical advice and by no means are these answers meant to be comprehensive. Rather, it's to encourage discussions about health choices."

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This is What High Cholesterol Does to Your Body Eat This Not That - Eat This, Not That

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