Polyplus-transfection presents latest solution portfolio for gene therapy market to Alliance for Regenerative Medicines Meeting on the Mesa

Strasbourg, France, October 12, 2020 Polyplus-transfection(R)SAthe leading biotechnology company that supports the gene and cell therapy market bysupplying innovative transfection solutions, today announces it will present its latest integrated solution to support viral vector manufacturing from process development through to commercialization for the gene therapy sector. The presentation will be delivered at theAlliance for Regenerative Medicine(ARM) annual conference, the 2020 VirtualCell & Gene Meeting on the Mesa. The meeting will be held between Monday October 12 and Friday October 16, 2020.

The Polyplus-transfection presentation will be delivered by Graldine Gurin-Peyrou, Director, Polyplus-transfection and will be available to view on demandonlinethroughout the conference.

Polyplus-transfection specializes in working with viral vector developers and manufacturers to provide innovativetransfection reagentsthat can boost viral vector production. The new Polyplus-transfection complete solution has been designed and developed to improve the critical element in gene therapy production the upstream process development for viral vector manufacturing.

The Polyplus solution involves the development of dedicated transfection reagents depending upon the viral vector type required. This includes first targeting the AAV manufacturing with Polyplus-transfections novel transfection reagentFectoVIR-AAV, The reagent has been specifically developed to improve AAV (adeno-associated virus) production in suspension cell culture system for large-scale manufacturing.

The Polyplus solution also gives the gene therapy market access to the industrysfirst GMP compliant testfor the Polyplus-transfection PEIpro product range to detect residual transfection reagent during the production of ATMPs (advanced therapeutic medicinal products). GMP guidelines specify manufacturers should be aware of both the residual levels of raw materials used in drug products, and the significance of these results. These regulations ensure manufacturers reliably determine residual raw material levels and thus maintain reproducible safety of ATMPs for patient administration. The Polyplus test is able to detect and quantify residual PEIpro throughout the ATMP manufacturing process. As a result, it can be used as a release quality control. The test can be adapted for each ATMP in order to ensure the lowest limits of detection.

Finally, the Polyplus solution is the first globally toenable access to dual sourcing for reagents. This will mitigate the risks to the ATMP industry as the sole provider of the PEIpro-GMP transfection reagent, the most used transfection reagent worldwide and a critical component for the development and manufacture of ATMPs for gene therapies. The dual sourcing approach enables Polyplus to source its PEIpro-GMP product from two distinct subcontracting manufacturing plants. Polyplus is able to ensure sole responsibility and control of the process. ATMP manufacturers are then able to have Polyplus as a single point of contact whilst benefiting from increased production capacity and shortened lead times.

ATMPs and gene therapies are moving through late-stage trials and to commercialization at an exponential rate. This in turn is vastly increasing the demand for GMP reagents. In addition, ATMP therapies are becoming progressively more complex, and this means that Polyplus-transfection has to increase its services to the gene therapy sector, alongside its products, said Graldine Gurin-Peyrou, Director, Polyplus-transfection. Communicating these services to the gene therapy market through the Alliance for Regenerative Medicines Meeting on the Mesa is essential for us as we move forward in our delivery of critical reagents that will ultimately result in therapies reaching patients.

About Polyplus-transfection SA

Polyplus-transfection(R) SA is the leading biotechnology company that supports Gene and Cell therapy, along with other biologics manufacturing and life science research with innovative nucleic acid transfection solutions. Polyplus-transfections strengths are 20 years of experience in manufacturing transfection solutions with tailored scientific and regulatory support to accelerate research and clinical development. Based on the Science Park close to Strasbourg (France), Polyplus-transfection offers an extensive and growing range of transfection reagents available worldwide. For more information, please visit the Polyplus-transfection web site at:www.polyplus-transfection.com.

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Polyplus-transfection presents latest solution portfolio for gene therapy market to Alliance for Regenerative Medicine's Meeting on the Mesa -...

Recommendation and review posted by Bethany Smith

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Recommendation and review posted by Bethany Smith

A breast cancer diagnosis rearranges priorities quickly for a woman. Along with possible treatments, such as hormone therapy, chemotherapy and radiation, most women also undergo surgical treatment which could include lumpectomy or mastectomy.

Once a successful course of treatment that includes a mastectomy ends, then what? For some women, part of recovery includes restoring a part of themselves that was removed.

Despite demonstrated psychosocial benefits breast reconstruction surgery can provide, some women either arent aware of all of the options available to them, or that they are candidates for reconstruction at all.

Jessica Hsu, M.D., Ph.D., a plastic surgeon at Michigan Medicine, says awareness is critical for women to make informed choices about how to proceed after cancer treatment.

Its a very personal decision. The important thing is to just have a conversation about all of the options, Hsu says.

Michigan Medicine has an integrated breast care clinic, and every woman diagnosed with breast cancer is offered a plastic surgery consultation. Once a patient decides to pursue breast reconstruction after total mastectomy, theyll likely be offered one of two main procedures offered at the clinic: Implant-based breast reconstruction or natural (also called autologous) tissue breast reconstruction.

Implant-based breast reconstruction uses implants that contain either silicone or saline, has a shorter recovery period and is the more common of the two procedures. Complications with the implants can arise, however, particularly in the case of women requiring radiation as part of their cancer treatment.

Natural tissue breast reconstruction involves moving tissue from another part of the bodymost often the patients abdomenand using that tissue flap to reconstruct a breast mound. Its a procedure that Paige Myers, M.D., a plastic surgeon at Michigan Medicine, specializes in performing. Myers is trained in microvascular surgery, which is required to reconnect the blood supply from the donor tissue to the reconstruction site in some cases.

Breast reconstruction using natural tissue is generally a more involved surgery with a longer recovery time, with a higher immediate complication rate. The upside is that it offers women more natural looking breasts, with tissue that changes along with their bodies and fewer future surgeries over time.

The benefits of autologous breast reconstruction surgery in people who are candidates for both tend to be more longevity of the reconstruction. The patients require fewer revisions down the road. Its your own tissue, so it ages with you naturally, Myers says.

Of course, one option is to not have reconstruction surgery to recreate breast mounds. As with all of the options, its a personal choice, and another one for women to consider.

Theres been a lot written on the flat and fabulous crowd and thats a form of breast reconstruction, Hsu says. They often still do have cosmetic concerns about their skin and we get involved in those cases.

Some women may not be interested in more surgery after undergoing a mastectomy. Hsu sees reconstruction as part of the treatment and recovery process, and points to the confidence women gain after reconstruction.

A lot of people think that the purpose of surgery is to restore function only, and they forget the other part, which is form, Hsu says. To help a woman have symmetric breasts after breast cancer surgery so they feel good in their clothing or in a swimsuit, and feel more like a woman with breast mounds, is really importantand really important to me.

Myers has seen examples of the powerful effects that breast reconstruction can have on a womans mental wellbeing. A happy patient once shared a photo of her son trying to breastfeed from a reconstructed breast after her surgery. To both mother and son, things seemed familiar in a way that was comforting.

According to Myers, so much of the breast cancer journey involves loss of control, and empowering women to determine what their bodies look like after mastectomy is another benefit.

Cancer diagnosis, therapy and everything that ensues takes so much away from patients, Myers says. To be in control of their own course of care, and what they feel is best for them, is another huge benefit.

Many barriers keep women from seeking a consultation or pursuing breast reconstruction surgery. Information overload is an issue for women who are already receiving a breast cancer diagnosis and the ensuing treatment.

Hsus typical consultations last about an hour. Women leave armed with pamphlets and are followed up closely to see if they have additional questions. Its a thorough process, but Hsu thinks theres room to improve the way information is delivered.

Our patients range from younger than 20 to people in their 70s and 80s, so its important to have resources that work for different age groups and different levels of technical comfort, Hsu says. There is an active effort at Michigan Medicine, led by Edwin Wilkins, M.D., to improve patient education resources and decision aids for breast reconstruction.

Myers understands that reconstruction takes a mental back seat to treatment.

When first faced with a cancer diagnosis, women are flooded with emotions and an onslaught of information, Myers says. Survival is the main thing on their minds, and that should be their priority. They receive all this information and then it seems reconstruction is put on the back burner.

The way the University of Michigan Rogel Cancer Centers multidisciplinary Breast Care Center brings the various treatment teams together helps to keep the options more top of mind for patients. According to Myers, not every health care setting has an integrated approach or structure.

Sometimes patients have trouble simply finding a clinic that can perform the surgeries. In some cases, a provider may not be able to offer an option that works and may not refer women elsewhere.

Women may not have access to a microsurgeon, geographically or otherwise, to perform the autologous reconstruction and, therefore, this can be a huge barrier for patients who arent candidates for implant-based reconstruction, Myers says.

The expense of breast reconstruction surgery may also deter women, especially if they dont think the results will be worth it. Hsu says its important to note that most group insurance providers that cover mastectomies are also required to cover breast reconstruction surgery, and that the coverage is more comprehensive than women might assume.

Coverage includes revision on the other side to achieve symmetry, Hsu says. Patients who are undergoing mastectomy on one side worry they wont be able to match the other side that didnt have cancer so they sometimes dont pursue it.

Hsu stresses that she and the rest of the team are eager to help women navigate questions and barriers, and to walk them through the options so that they ultimately make the decision thats right for them.

If you have questions, Im here, Hsu says. If you want to meet in five years, Im here. If you dont want to do it, thats your choice, and thats fine, too.

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Breast Reconstruction Surgery: Options, Benefits and Barriers - Michigan Medicine

Recommendation and review posted by Bethany Smith

This is National Breast Cancer Awareness Month. Maintaining that focus is important since breast cancer is the most common cancer in women worldwide, regardless of race, contributing more than 25 percent of new cancer cases.

Although more women are surviving, breast cancer has been on the rise for several years, and theres no simple answer as to why. Breast cancer is a complicated disease with a variety of different causes, and many aspects of our lives swing our risk in one direction or another. While some of these are out of our hands, others can be controlled, which is why eating healthy and exercising can help reduce risk.

As to what to drink, water is best, and coffee and tea are also useful because they contain antioxidants that can reduce your risk of cancer. You should eat a diet rich in vegetables and fruits. Foods to stay away from include grilled and red meat and processed foods. Eat them only occasionally.

If theres a history of breast cancer in your family, your risks are higher, and you should be informed on how to reduce it. A good place to start is the Mayo Clinic. Visit mayoclinic.org and search for reduce breast cancer risk for dozens of articles on that subject.

Youll learn what you likely already know: limit alcohol, dont smoke, control your weight, be physically active, breast-feed and limit hormone therapy. Be vigilant about breast cancer detection. If you notice any changes in your breasts, such as a new lump or skin changes, consult your doctor. Also, ask your doctor when to begin mammograms and other screenings based on your personal history, the clinic advises.

In addition to decreasing your risk of breast cancer, a healthy diet also staves off diabetes, heart disease and stroke. Says the clinic, Women who eat a Mediterranean diet supplemented with extra-virgin olive oil and mixed nuts might have a reduced risk of breast cancer. The Mediterranean diet focuses on mostly plant-based foods, such as fruits and vegetables, whole grains, legumes and nuts. People who follow the diet choose healthy fats, such as olive oil, over butter and eat fish instead of red meat.

To learn more about other ways you can help fight breast cancer, visit komeneasttennessee.org.

* Guest editorial from The Kingsport Times-News in Kingsport, Tenn.

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Recommendation and review posted by Bethany Smith

Intercourse is without doubt one of the easiest issues on the planet, and probably the most sophisticated. In case your libido is flagging, it isnt as straightforward as flipping a swap again to on. Libido is pushed by plenty of components, says Michael Ingber, MD, a specialist in feminine pelvic medication and urology based mostly in Denville, New Jersey. The sexual response cycle requires a whole lot of issues to occur. That course of might be affected by food plan, way of life, stress and hormone rangessimply to call a couple of variables. In case your want is derailed and also you need to get again on observe, here is the place docs say you need to begin. Learn on to study the most effective methods to extend libido, and to make sure your well being and the well being of others, do not miss these Sure Signs Youve Already Had Coronavirus.

1

Strolling or performing some sort of motion train every day reduces irritation, boosts intercourse drive and improves the blood movement to the intercourse organs, says Yeral Patel, MD, a purposeful medication doctor in Newport Seaside, California. This small adjustment could make a giant distinction.

Train can also improve the output of pure endorphins, making one really feel calm and horny, says Felice Gersh, MD, an OB/GYN and founder/director of the Integrative Medical Group in Irvine, California. After all, train helps each women and men change into buffand a physique you are feeling horny in goes an extended technique to growing the will for intercourse.

The Rx: Goal to get 30 minutes of train most days of the week, together with at the least two periods of power coaching weekly.

2

Chocolate incorporates many mood-enhancing and energy-producing chemical compounds, so it is no surprise we affiliate chocolate with friskiness, happiness and sexual cravings and satisfaction, says Anna Cabeca, DO, an OB-GYN and anti-aging doctor and writer of The Hormone Repair. It incorporates theobromine (a temper elevator), caffeine and sugar (a temper elevator and vitality booster) and the endorphin Phenylethylamine (PEA) which produces an vitality enhance.

Story continues

The Rx: Attempt a couple of squares (a 1 to 2 oz. serving) of darkish chocolate for dessert.

Three

Persistent stress retains this intercourse drive low, says Myles Spar, MD, MPH, an inner medication doctor and writer of Optimum Maless Well being. The easiest way to repair that is to learn to handle stress in order that the physique just isnt all the time in fight-or-flight mode, feeling like you might be below assault on a regular basis.

The Rx: Day by day habits like journaling, breathwork, mindfulness observe, meditation, mild yoga and even prayer have been proven to considerably decrease the sympathetic nervous system overdrive state and create a way of rest, says Spar. Then intercourse drive will increase, as a result of the mind senses that it is time for copy. It is all evolutionary.

four

Sleep is necessary. There have been a number of research that present a scarcity of sleep negatively impacts intercourse drive. So ensure youre well-rested otherwise you will not be up for the duty, says Ingber.

The Rx: Specialists advocate seven to 9 hours of sleep nightly for the optimum efficiency of your coronary heart, mind, metabolismand intercourse drive.

5

Chubby and overweight sufferers have elevated irritation which causes hormone imbalance and thus, could cause low libido and low intercourse drive, says Patel.

The Rx: Keep in a wholesome weight vary with common train and a balanced food plan.

6

Most processed meals include hormone-altering chemical compounds that may wreak havoc on (amongst different issues) intercourse drive, says Patel.

The Rx: As an alternative of packaged meals, Patel recommends consuming beets and spinach, that are excessive in pure nitrates that assist improve blood movement to the intercourse organs; lycopene-rich meals comparable to citrus and tomatoes, which additionally improve blood movement; and meals excessive in flavonoids, comparable to darkish chocolate, blueberries, strawberries and inexperienced tea. These assist strengthen and heal blood vessels.

RELATED: Im a Doctor and This Vitamin May Reduce Your COVID Risk

7

Oysters have been acknowledged for hundreds of years as a traditional aphrodisiac, says Cabeca. Oysters include dopamine, a hormone recognized to extend libido. Oysters and most shellfish additionally include arginine, an amino acid that the physique makes use of to make nitric oxide. Nitric oxide will loosen up and develop your blood vessels, very similar to the erectile dysfunction drug Viagra, thereby growing libido. Avocados are excessive in vitamin B6, which helps improve hormone manufacturing and enhance libido for each sexes, she provides.

The Rx: Indulge within the occasional oyster dinner. Avocados might be part of your every day menuon salads, in smoothies, or as a facet dish for lean protein.

eight

Toxins are one other stressor on our our bodies that may affect hormone manufacturing and may bind to hormone receptors, says Stephanie Gray, DNP, MS, founding father of the Integrative Well being and Hormone Clinic in Hiawatha, Iowa. Work to take away poisonous chemical compounds from your own home and out of your private care merchandise.

The Rx: One of many frequent toxins is plastics. Plastic usually incorporates bisphenol A (BPA), an endocrine disruptor that may have damaging results on our reproductive organs and hormones, particularly the breasts in females and prostate in males, says Grey. Some private care merchandise additionally include parabens and phthalates (extra endocrine disruptors), so learn the labels and keep away from merchandise that merely listing added perfume, since this catch-all time period typically means hidden phthalates.

9

Too usually sufferers see me stating, My physician already checked my hormones and advised me they have been regular when that is not actually the case, says Grey. Possibly that they had an FSH (menopause) marker checked however did not even have intercourse hormone ranges like estradiol, estrone, progesterone, and testosterone checked.

The Rx: Past having the degrees checked, discover a hormone specialist who can correctly interpret your hormone ranges and formulate a recreation plan to enhance them, says Grey. Simply because ranges register within the regular vary does not imply theyre optimum.

10

Similar to males, testosterone is the principle steroid hormone which causes libido to extend in girls. So consider it or not, we frequently give this to girls whove a low libido, says Ingber. Additionally, hormones like dopamine, oxytocin, and serotonin play a task.

The Rx: Sure prescription drugs, comparable to Addyi and Vyleesi, are prescribed to deal with decreased sexual want in girls, says Ingber. If low testosterone is a reason for a persons low intercourse drive, testosterone substitute remedy (TRT) is on the market.

11

Ristela (Bonafide) is a brand new pure remedy which is a plant-based mix of french maritime pine bark extract, antioxidants and naturally occurring amino acids. It was proven to extend bodily arousal by 75% after solely two months of taking it, says Ingber.

The Rx: See your healthcare supplier about whether or not a nutraceutical is an efficient choice for you.

12

Im usually requested about low libido and what choices can be found for ladies whore experiencing a low sexual want with their accomplice, says Lyndsey Harper, MD, founding father of Rosy, an app for ladies with decreased sexual want. My reply is all the time the identical regaining your sexual want is like setting a brand new aim. It requires a dedication and dedication to making an attempt one thing new that could be out of your consolation zone and sticking with it till you attain your aim.

The Rx: One of many evidence-based interventions I like to recommend is studying a romantic or horny brief story earlier than you propose on having intercourse, says Harper. Studying an attractive story can rev up sexual vitality and open up the room for pleasure and pleasure. After you have a optimistic and pleasurable sexual expertise, this in and of itself will assist you regain intimacy and create a bodily connection and appreciation together with your accomplice.

13

A food plan excessive in inexperienced leafy greens, beets, and citrus fruits and melons is an effective way to boost the manufacturing of nitric oxide, the gasoline signaling agent that causes vascular engorgement of the penis and of the feminine labia minora and clitoris, says Gersh.

The Rx: Are you getting sufficient? The Dietary Pointers for Individuals recommends consuming 2 cups of fruits and a pair of cups of greens each day. (However extra would not damage.)

14

Antioxidants can vastly assist within the enjoyment of intercourse by growing genital blood movement, reducing body-wide irritation, and enhancing ranges of intercourse hormones, says Gersh. Some dietary supplements can even elevate ranges of nitric oxide, offering its precursor, like beet powder and Vitamin C.

The Rx: For dietary supplements, I might counsel maca as an total finest aphrodisiac, says Gersh. However do not forget a multivitamin, vitamin D and Okay, zinc, magnesium, omega-Three, probiotics, B12, folate and a B advanced.

15

If there are relationship issues, they should be addressed very first thing, says Gersh. Relationship discord causes large stress, which lowers libido. Stress of every type should be dealt with, and most notably when the stress entails that couple.

The Rx: In case you have conflicts to work out together with your accomplice, counseling and stress-reduction workouts are sensible methods. Attempt meditation or guided imagery to enhance tolerance of one other and of oneself, says Gersh. Have a good time the little beauties of life, and attempt to maintain the bigger points emotionally managed.

As for your self: To get by way of this pandemic at your healthiest, do not miss these 35 Places Youre Most Likely to Catch COVID.

See the original post here:
15 Greatest Methods to Enhance Your Libido, In response to Docs - KYR News

Recommendation and review posted by Bethany Smith

Younger women may be more likely to die in the decade following a heart attack than men of the same age, a new study suggests.

In general, women under age 50 experience fewer heart attacks than men in the same age range. The new study, published Oct. 13 in the European Heart Journal, also reflects this trend; of 2,100 heart attack patients treated at the Brigham and Women's Hospital and Massachusetts General Hospital in Boston between 2000 and 2016, only about 400 were women. The average age of all the patients in the study was 44 years old.

But over the long-term, these young women were more likely to die than young men. The study authors followed the patients for a median of 11 years, and found that women were 1.6 times more likely to die from any cause than men during that time.

Related: 9 new ways to keep your heart healthy

"Notably, the differences in mortality in our study were primarily driven by non-cardiovascular death," meaning deaths not caused by a heart condition, study author Dr. Ersilia DeFilippis, a cardiology fellow at New York Presbyterian-Columbia University Irving Medical Center, told Live Science in an email. Examples of these non-cardiovascular causes of death included cancer and sepsis, a kind of overblown immune response to an infection.

Unfortunately, "there were no clear explanations as to why women had lower survival," DeFilippis noted, though the study revealed a number of factors that may be at play.

"The risk factors for disease of other organs overlap with risk factors for heart disease," Dr. Marysia Tweet, an assistant professor in Cardiovascular Medicine at the Mayo Clinic, who was not involved in the study, told Live Science in an email. "A heart attack and the ramifications of a heart attack may affect the health of other organs. Long-term mortality is likely due to a combination of multiple factors."

For instance, women in the study had higher rates of diabetes than the men, as well as higher rates of diseases such rheumatoid arthritis , where joint pain and inflammation are often triggered by an immune system attack. This persistent inflammation may drive the formation of fatty plaques in blood vessels, which can block arteries and lead to a heart attack, according to a 2012 report in the journal Arteriosclerosis, Thrombosis, and Vascular Biology. That same inflammation may also affect how patients recover.

In addition, the women showed higher rates of depression than men in the study. "Depression impacts adherence to healthy lifestyle recommendations and medications," which could impact women's long-term survival after a heart attack, Tweet wrote in a commentary also published in the European Heart Journal about the research. But it's also possible that the physiological changes that coincide with depression independently worsen outcomes; for instance, elevated levels of stress hormones and inflammatory molecules called cytokines could worsen a patient's prognosis, she wrote.

In general, women are about twice as likely as men to experience stress-induced reduction in blood flow to organs after a heart attack, according to a 2018 report published in the journal Circulation.

Related: Beyond vegetables and exercise: 5 surprising ways to be heart healthy

Beyond these risk factors, women also received different care from men when being treated for their heart attacks.

Women in the study were less likely than men to undergo coronary angiography, an exam in which dye is injected into the blood vessels so doctors can view those vessels and possible blockages on X-ray. They were also less likely to receive coronary revascularization, in which blood flow is restored through surgery or placement of a stent into the obstructed artery. When discharged from the hospital, women were less likely to be given medications like aspirin, beta-blockers, ACE inhibitors and statins, which are often prescribed after a heart attack to protect the organ from further damage.

These differences in medical care may reflect "persistent sex or gender disparities in clinical care and decision-making," or they may reflect clinical differences in how the men and women's heart attacks unfolded, Tweet wrote. For example, more women than men developed a spontaneous tear in an artery in the heart, which would deter doctors from performing an invasive procedure like coronary revascularization.

Women were also less likely to have severe blockages in their coronary arteries as compared with men, which would also reduce the need for coronary revascularization, Dr. Ron Blankstein, a professor of medicine at Harvard Medical School and a preventive cardiologist at Brigham and Women's Hospital, wrote in a statement.

Related: 7 foods your heart will hate

Socioeconomic status may be another critical factor in women's long-term survival rates, the authors wrote. "In our study, we found that women had lower median incomes than men and were more likely to have public insurance," DeFilippis said. "Therefore, there are likely differences in access to care which are playing a role."

Further studies will be needed to tease out how these factors affect women's long-term survival after a heart attack, the authors noted. In the meantime, cardiologists "need to educate women regarding the risks of cardiovascular disease and potential worrisome symptoms," DeFilippis said. In the study, chest pain was the most commonly reported symptom among both men and women, but a higher proportion of women reported symptoms like shortness of breath, heart palpitations and fatigue.

Doctors can improve women's care by recruiting more women into clinical trials, actively including sex-based data in studies of heart attacks and better addressing sex-specific risk factors when educating patients, Tweet wrote in her commentary. For instance, gestational diabetes and preeclampsia severely high blood pressure during pregnancy can place women at higher risk for heart attacks, she wrote. Ovary removal has also been associated with a higher risk of heart attacks, potentially because ovaries produce the sex hormone estrogen, which is thought to protect against heart disease, according to Harvard Health.

Furthermore, some research suggests that women face greater cardiovascular risks from smoking than men do; all these risk factors warrant further study, especially in terms of whether the risk they present outmatches the protective power of estrogen and leaves women more prone to heart attacks, the authors wrote.

Originally published on Live Science.

See the article here:
Young women may be likelier to die after heart attacks than men - Live Science

Recommendation and review posted by Bethany Smith

Ken Gordon|The Columbus Dispatch

Watching his son Sora crouched low on a skateboard recently, gliding smoothly down a ramp at Adventure Park in Powell, Tristan Chamberlain thought of all the things that doctors had said Sora would never do.

Born in 2015 with Prader-Willi Syndrome, a rare genetic disorder, the outlook for Sora was uncertain. The syndrome affects about 1 in 15,000 children andtypically leaves themwith low muscle tone, abnormal growthand intellectual disabilities, among other issues.

They told us there was a good chance he would have to use a walker for the rest of his life, Chamberlain said. At 3, he was walking on his own. Then they said, `Well, hes walking now, but he wont be able to run and play like normal kids can do.

So then we got him running around, and they said he probably wont be able to do other things like jumping.

He pulled out his phone and showed off a picture of Sora, now 5,jumping off a large climbing rock at a different park.

A skateboarder in his youth he calls Sora"little dude" and uses the term "gnarly" often Chamberlain, 39, introduced Sora to the sport as a way to keep up his son's muscle tone and balance during the COVID-19 pandemic, when hisphysical therapy sessions were temporarily halted.

Chamberlain said skateboarding has helped Sora both physically and socially. And the skate community, he said, has been welcoming.

"His reaction time is a lot better, he can anticipate things," he said. "And the skills he has developed here have translated into other things, like his running is so much better now."

As for the doctors' gloomy predictions, he said he understands why doctors are hesitant to be overly optimistic, not wanting to provide false hope. But he along with his wife, Tomomi Tanaka never bought into the idea that Soras potential was limited, even after more obstacles were added to his path. He was diagnosed with cerebral palsy 18 months ago and also is on the autism spectrum.

Every new parent has this fantasy of what its going to be like to have a child, and sometimes life punches you in the face, TristanChamberlain said. But having a special-needs child has been the most rewarding thing in my entire lifebecause it taught me to quit worrying about things I cant control.

I cant change the fact that my son has a genetic disorder, but I can change myself and be the best dad possible.

For the Chamberlains, that has meant being aggressive advocates for Sora. That philosophy included approving a regimen of human growth hormone for their son, starting at 6 months of age.

The hormone, approved as a treatment for Prader-Willi in 2000, helps build muscle tone and possibly can help improve cognitive function, as well, according to Dr. Kathryn Obrynba, an endocrinologist at Nationwide Childrens Hospital and medical director of the hospitals Prader-Willi Syndrome Clinic.

Prader-Willi patients have a malfunctioning hypothalamus, the part of the brain that regulates essential functions such as hunger, body temperature and pain.

The natural course of this disease is changing every day because parents like Soras have advocated for change and been onboard with therapies like early growth hormone, Obrynba said. What may have been expected of patients 10 years ago is different from what we anticipate or expect now.

The Chamberlains have had Sora in physical therapy, occupational therapy and speech therapy for years. Not long after the physical therapy stopped this spring, Tristan Chamberlain was cleaning out the garage one day when Sora found his old skateboard.

He picked it up and said, `I want to ride it, Chamberlain said.And I thought, `Why the heck not?

The two started in April in the driveway of their Westerville home, learning to balance and stay on the board. By June, Chamberlain began taking Sora to a skatepark.

His wife, though, does not come and watch. Its a 'mom thing. Chamberlain's mother, Stephanie Chamberlain, said she can relate.

I remember the first time I watched Tristan drop in (to a steep ramp), I thought I was going to throw up, she said while watching her son and grandson at Adventure Park recently during a visit from her home in North Carolina.

All padded up and helmeted, Sora skates confidently, though on this day the park was crowded, and Chamberlainseveral times had to spring into action and guide Sora out of another skaters path. After seven runs, Sora got tired and a little cranky. It was time to head home, where he could play with his 3-year-old younger brother, Kai.

Chamberlainsaid Kai, a typically developing child, has been good for Sora, as has been his pre-kindergarten experience at the Westerville school districts Early Learning Center. The Chamberlains moved from German Village two years ago just so Sora could attend.

There, he and other special-needs kids are in a classroom with typical kids. The goal is to normalize special needs, and also perhaps for the typically developing kids to push Sora to try harder.

It is a phenomenal environment, Chamberlain said.

Obrynba said she wasnt aware that Sora wasskateboarding, but she isnt surprised.

Thats awesome, she said. Tristan and Tomomi support Sora amazingly. Im so impressed with what they do.

The Chamberlains also are involved in fundraising campaigns for Prader-Willi Syndrome. Tristan Chamberlain is particularly proud of aninitiative he and a friend are planning, a line of skateboards that will be sold to benefit research.

They are imprinted with a phrase that he says is inspired by the memories of being told what Sora would never do:

Yes, I Will.

kgordon@dispatch.com

@kgdispatch

See the article here:
Skateboarding the latest accomplishment for Westerville boy with rare genetic disorder - The Columbus Dispatch

Recommendation and review posted by Bethany Smith

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Impact Of Covid-19 On Blood Testing Market Is To Witness Significant Growth Between 2020-2027 With Leading Players Abbott Laboratories, Bio-Rad...

Recommendation and review posted by Bethany Smith

Postmenopausal women and men with advanced-stage hormone-receptor-positive, HER2-negative breast cancer with a PIK3CA mutation that grew during or after hormonal therapy lived about 8 months longer when treated with the combination of Piqray (chemical name: alpelisib) and Faslodex (chemical name: fulvestrant) compared to Faslodex alone.

These latest results from the SOLAR-1 study were presented on Sept. 19, 2020, at the European Society for Medical Oncology Virtual Congress 2020. Read the abstract of Overall survival (os) results from SOLAR-1, a phase III study of alpelisib (ALP) + fulvestrant (FUL) for hormone receptor-positive (HR+), human epidermal growth factor receptor 2-negative (HER2) advanced breast cancer (ABC).

Advanced-stage breast cancer is breast cancer that has spread to tissue near the breast (locally advanced) or to parts of the body away from the breast, such as the bones or liver (metastatic).

Overall survival is how long a person lives, whether or not the cancer grows.

Piqray is a targeted therapy medicine that inhibits the PI3K pathway. The PI3K pathway helps all cells both healthy and cancer cells get the energy they need. When this pathway is overactivated because of a mutation in the PIK3CA gene, it can allow cancer cells to survive and grow. PI3K inhibitors block this pathway, with the goal of killing cancer cells.

In hormone-receptor-positive breast cancers, a PIK3CA mutation also can make the cancer resistant to hormonal therapy medicines.

About 40% of people diagnosed with hormone-receptor-positive, HER2-negative breast cancer have a PIK3CA mutation.

Piqray is a pill taken by mouth.

Faslodex is a hormonal therapy medicine called an estrogen receptor downregulator. Faslodex sits in the estrogen receptor in breast cells so the cell cant receive estrogens signals to grow and multiply. Faslodex also reduces the number of estrogen receptors and changes the shape of breast cell estrogen receptors so they dont work as well. Faslodex is a liquid that is given once a month as an injection into a muscle.

The SOLAR-1 trial included 572 people diagnosed with advanced-stage hormone-receptor-positive, HER2-negative breast cancer that had previously been treated with hormonal therapy; 341 of the cancers had a PIK3CA mutation. The people in the study were either postmenopausal women or men.

The people were randomly split into two treatment groups:

Median follow-up time was 30.8 months. This means that researchers tracked half the people for a longer time and half the people for a shorter time.

For the 341 people diagnosed with cancer with a PIK3CA mutation, overall survival was:

This difference of about 8 months was not statistically significant, which means that it could have been due to chance and not because of the difference in treatment.

Still, the researchers who did the study said the difference in overall survival was clinically meaningful and supports using Piqray to treat advanced-stage hormone-receptor-positive, HER2-negative breast cancer with a PIK3CA mutation that has grown after hormonal therapy.

Like almost all cancer medicines, Piqray can cause side effects, some of them severe.

The most common side effects of Piqray are:

Piqray also may cause serious side effects, including:

If youre a postmenopausal woman or a man who has been diagnosed with advanced-stage hormone-receptor-positive, HER2-negative breast cancer with a PIK3CA mutation that has grown after treatment with hormonal therapy, the latest results from the SOLAR-1 study are very encouraging.

Earlier results from the SOLAR-1 trial showed that Piqray and Faslodex led to longer progression-free survival compared to Faslodex alone. Progression-free survival is how long a person lives without the cancer growing.

These latest results showing 8 months longer overall survival for people treated with Piqray and Faslodex, while not statistically significant, offer more support for using Piqray to treat this type of breast cancer.

If youre being treated for advanced-stage hormone-receptor-positive, HER2-negative breast cancer with a PIK3CA mutation that has stopped responding to the first hormonal therapy, you and your doctor are likely considering several treatment options, including Piqray. Together, you will weigh the benefits and risks of each treatment and decide on the best treatment plan for your unique situation.

Written by: Jamie DePolo, senior editor

Published on October 16, 2020 at 11:36 AM

Visit link:
Piqray Improves Overall Survival for Advanced-Stage Hormone-Receptor-Positive, HER2-Negative Breast Cancer With PIK3CA Mutation - Breastcancer.org

Recommendation and review posted by Bethany Smith

The European Parliament voted by a large majority to set up three special committees and a committee of inquiry for 12 months, along with a permanent subcommittee. Of those three special committees, one is the Special Committee on Beating Cancer, which is tasked with looking into different ways and opportunities for the EU to take specificaction, revise legislation and other compelling measures in order to prevent or to fight cancer.

Across the European Union, cancer is the second leading cause of death after cardiovascular disease, claiming the lives of 1.4 million Europeans each year and causing the loss of 2.3 million potential working years due to premature deaths as well as a 70bn loss in productivity.

The burden of cancer brings unimaginable suffering for patients, survivors and caregivers alike, all while stretching available healthcare resources. Cancer is an age-old disease which we are only now beginning to understand, thanks to major breakthroughs over recent decades.

We know that cancer is a complex genetic disease with more than 100 cancer types, involving nearly 1,000 known cancer-related genes, all of which points towards a small probability of ever finding a silver bullet that will treat all cancers. Our best option to beat cancer is to have a comprehensive approach, emphasising the importance of prevention and early detection, while supporting the development of novel therapies and improving follow-up care.

Our best option to beat cancer is to have a comprehensive approach, emphasising the importance of prevention and early detection, while supporting the development of novel therapies and improving follow-up care

Although this plan seems straightforward, the truth is that things are much more complicated. The 33 sitting members of the Parliaments Special Committee on Cancer will act as a bridge between stakeholders, from patients and doctors to industry and research institutes, making sure that all needs are heard and proper funding is sought. It is the Committees job, in partnership with the European Commission, to find all the legal means that will allow the Plan to Beat Cancer to take shape, setting up the political agenda and mapping its main objectives.

Fighting cancer is not an easy endeavour, nor is it cheap. Since 1971, when the US government declared war on cancer, more than $200bn has been spent by Washington alone on research and development of new medical treatments and gaining valuable knowledge on the nature of this disease.

We must grasp from the very beginning the magnitude of overcoming the colossal challenge that lies ahead. One major problem we are dealing with is the huge disparity between EU Member States in terms of cancer fighting programmes. Statistics vary widely from country to country, with more cancer survivors living in the west than in the east.

This is due in part to extensive national screening programmes, better access to specialised treatment and better health coverage. We have to ensure that European citizens enjoy the same level of health care regardless of their nationality. As any doctor will tell you, why treat when you can prevent? Between 30-50 percent of all cancers are preventable.

Prevention must be the cornerstone of our policies. We must set up the EU agenda on promoting a healthier lifestyle, emphasising the need to have a healthy diet, curbing smoking and alcohol consumption, all paired with daily exercise.

Environmental pollution and occupational carcinogens are other substantial risk factors that need to be addressed. When it comes to tumours, early diagnosis is key to improving patient outcomes. We need EU-wide screening programmes for the common types of cancer, improving coverage rates and making sure that patients have easy access to screening centres in all Member States.

We should incentivise research and development for better diagnosis equipment and integrate frontrunner technologies such as liquid biopsies and Artificial Intelligence in the process. Through developing a better understanding of how cancer works, we now have access to more efficient therapies, like personalised medicine or gene therapy.

The 33 sitting members of the Parliaments Special Committee on Cancer will act as a bridge between stakeholders, from patients and doctors to industry and research institutes, making sure that all needs are heard and proper funding is sought

But there is also a growing concern with regards to the affordability of certain treatments. Therefore reducing the cost and access of treatment for cancer patients and ensuring the sustainability of our health systems must be our top priority.

Rare and very rare types of cancer - about 20 percent of all cases - most of them being paediatric cancer, are largely overlooked by industry and research institutes. Encouraging R&D of novel treatment for rare and very rare cancers can be achieved through alternative financing mechanisms, such as milestone prizes.

By the end of our lifetimes, each one of us will have a one-in-two chance of developing a form of cancer and a one-in-five chance of dying from cancer; this is not a warning, but a reality check that most of us will have to face unless we start acting decisively.

Read the rest here:
Beating Cancer: Prevention must be 'cornerstone' of EU's new approach - The Parliament Magazine

Recommendation and review posted by Bethany Smith

Dr Humaid Al Shamsi delivers the new injection to patient Joanne Resta Image Credit: Supplied

Abu Dhabi: A brand new subcutaneous injection is set to revolutionise treatment for patients battling breast cancer.

The medicine a combination of the prescription drugs pertuzumab and trastuzumab can be delivered in a simple five-minute injection, instead of the three to five hours needed to deliver the drugs in the form of an infusion.

First time outside US

Called Phesgo, it has been licensed in the UAE and was offered on a trial basis to a patient last week at the Burjeel Cancer Institute. This represented the first time the injection was delivered outside the United States, Dr Humaid Al Shamsi, director of oncology at Burjeels parent company, VPS Healthcare, told Gulf News. The new drugs delivery coincides with Breast Cancer Awareness Month, which is marked every October.

Dr Al Shamsi, who is also president of the Emirates Oncology Society, said the quick and easy form of drug delivery will help improve patients quality of life, in addition to reducing the costs of treatment. This form of treatment should be the standard of care for cancer in the near future, he said.

Phesgo is also the only medicine of its kind available at present, which is why its availability in the UAE will be a game-changer, the doctor added.

Breast cancer type

The medicine can be used for patients who have HER2 positive breast cancer, which affects nearly 25 per cent of breast cancer patients. HER2 itself is a gene that produces HER2 proteins, or receptors. When the gene isnt working properly, it reproduces too many copies, which leads to overexpression of the HER2 protein. This causes uncontrolled breast cell division and the formation of tumors representative of HER2-positive breast cancer.

Dr Al Shamsi said Phesgo can be given in the early stages, as well as for a while in the advanced stages.

Major benefits

Typically, patients receive this combination of drugs for a year, along with chemotherapy for three to four months. Patients will still have to come in for the chemotherapy, but they can be trained to take the Phesgo injections at home. Even if they come in to the hospital to receive the injections, the shortened treatment time frees up cancer chairs, and reduces insurance costs, he explained.

In addition, patients with advanced HER2 positive breast cancer also need to take the medicine for life, so this medicine makes treatment delivery much more convenient.

Insurance approval

Dr Al Shamsi said the prescription medicine is pending insurance approval, but as soon as this is received, at least 50 of his patients would qualify to receive Phesgo. He also explained that the injection has no additional side effects, save some minor discomfort at the inject site, compared to when the injections are given as infusions.

So convenient

Joanne Resta, 42, a homemaker from the Philippines, was the first patient in the UAE to receive Phesgo, and she said it would greatly ease her treatment. I was diagnosed with breast cancer in January 2020, and have already finished the chemotherapy prescribed. I have to now do this pertuzumab-trastuzumab targeted therapy for a year, once every three weeks. Every time I have to come in to the hospital for an infusion, it takes me five to six hours, and I also have to find a sitter with whom I can leave my two children, aged four and five. So this new injection sounds wonderful to me. It is so covenient, Resta said.

Breast cancer is the most commonly detected cancer among women in the UAE, with more than a 1,000 new cases reported every year. It is also the cancer with the second highest rate of mortality in the UAE, after colorectal cancer.

Go here to read the rest:
Watch: New 5-minute injection a game-changer in breast cancer therapy in UAE - Gulf News

Recommendation and review posted by Bethany Smith

As a nurse, Joellyn Koscik knows how important regular health screenings are.

So when the Homer Glen wife and mother turned 40 last year, she followed theAmerican Cancer Societys guidelinesfor breast cancer screening and had her first mammogram.

Never in a million years did she think it would result in a cancer diagnosis.

The Unexpected Diagnosis that Changed Her Life

Kosciks story began in the spring of 2019, when radiologists flagged a possible area of concern in her right breast. Following a diagnosticmammogram,ultrasound and biopsy, her doctor delivered the news:triple negative invasive ductal carcinoma, stage 3. After completing a successful 4-month clinical trial treatment at UChicago Medicine in Hyde Park, Koscik underwent a double mastectomy with reconstruction in June 2020.

Second Clinical Trial a Precautionary Measure

Although the first round of treatment and mastectomy was successful, Kosciks treatment wasnt over. She was referred toDr. Anne McCall, M.D.,Radiation Oncologist at theUChicago Medicine Comprehensive Cancer Center at Silver Cross Hospitalin New Lenox, who immediately thought Koscik would be a great candidate for a radiation therapy study she was doing.

Joellyn was a perfect candidate for this trial because she had such a great response to her chemotherapy and a very successful reconstruction, said Dr. McCall.

In July of this year, Koscik started her second clinical trial, this one much closer to home atSilver Cross. The trial involved the use of hypofractionated radiation therapy after mastectomy and reconstruction.

Hypofractionationis a form of external beam radiation therapy that emits high-energy X-ray beams carefully aimed at the breast. Conventional radiationis delivered through the same machine, but with hypofractionation, tumors receive a higher dose of radiationper treatment session.

The point of the trial is to see the safety and effectiveness of a higher radiation dose over fewer sessions, which I received, versus a lower dose of radiation at more frequent sessions, which is the standard for radiation therapy, Koscik explains. The hope is that the radiation therapy after mastectomy will reduce my risk of the cancer returning and improve my outcomes.

Care Close to Home Made Treatment Much Easier

Over the course of three weeks in July and August, Koscik received 16 radiation therapy treatments with Dr. McCall, instead of the usual 25. The Monday-Friday sessions lasted only 30 minutes, so living just 15 minutes from theUChicago Medicine Comprehensive Cancer Center at Silver Crossmade getting to and from her treatments a breeze. Fortunately for Koscik, the side-effects were minor; fatigue and redness at the radiation site meant she could continue to work full time as a nurse, her role for the last 20 years.

During her first clinical trial, Koscik took a blood test that uses DNA analysis to identify harmful changes, or mutations, in either one of the two breast cancer susceptibility genes, BRCA1 and BRCA2. With the results of this test, called aBRCA test, Koscik discovered that even without a family history of breast cancer, she is BRCA1-positive (a genetic mutation of the BRCA1 gene), increasing her likelihood of having breast, ovarian and other reproductive organ cancers.

That news solidified her decision to undergo the mastectomy.

Since the trial only recently ended, I have an upcoming appointment with Dr. McCall to see how I did. I do plan on discussing with her the possibility of removing my ovaries and fallopian tubes as a further precautionary measure, says Koscik.

A Supportive Tribe Behind Her

Koscik lights up when talking about the people who never left her side and kept her spirits high through the toughest of days. My husband, Scott and our 11-year old son Jason have been with me through all of this, she beamed. Also, my family, my in-laws, my girlfriends, neighbors and co-workers, they never let me get down on myself and continue to encourage me on this journey.

Koscik also has many compliments on the care she received atSilver Cross Hospital, I would recommend Silver Cross to anyone. Everyone who cared for me, from the doctors and nurses, the radiation team and thelymphedema therapists, they were all so kind and treated me with love and care. During this COVID-19 pandemic, I am just so grateful to have been able to have my treatments, and Im beyond thankful for the great results Ive received so far.

To learn more about the cancer care offered at Silver Cross Hospital, visitwww.silvercross.org/cancer

Silver Cross Hospital

1900 Silver Cross Blvd

New Lenox, IL

60451

Read the original here:
Homer Glen Mom and Nurse Breast Cancer-Free after Radiation Therapy Clinical Trial at UChicago Medicine Comprehensive Cancer Center at Silver Cross -...

Recommendation and review posted by Bethany Smith

NEW ALBANY Brittany Martinez-Clark was only 30 years old when genetic testing during her annual checkup showed she had an 80% chance of having breast cancer at least once by the time she was 50.

It was late December 2018, and by January, she learned the results showed she was positive for BRCA2 gene, which makes the risk of having heredity ovarian or breast cancer increase significantly.

As a family nurse practitioner and owner of the Family Clinic of New Albany, she knew what her choices were.

It was terrifying when they called me because I already knew in the health field what the recommendations were for that, which is a mastectomy, Martinez-Clark said. I was like, Im 30 years old, I want to have another baby. There were a whole lot of questions that came with that.

Three aunts on her paternal side had breast cancer. When one aunt did not have a mastectomy after her breast cancer diagnosis, Martinez-Clark said the breast cancer came with a vengeance early this year as stage 4 cancer, which is still being treated. What ultimately motivated her to pursue a prophylactic mastectomy was thinking about her then 2-year-old son.

It was OK, this is why. I dont ever have to worry about getting that news now. I didnt want my family to have to go through what Ive seen my other family members, and what Ive helped them through with their cancer diagnosis because its hard, and its scary, Martinez-Clark said. Just the thought of not being there for my son was immensely scary to me knowing that he wont ever have to worry about me getting breast cancer is worth it.

Martinez-Clark met with a surgeon in Tupelo, but ultimately had her general surgery and reconstruction completed in Nashville with Drs. Sirinya Prasertvit and Jacob Unge, respectively. She took flights from Tupelo to Nashville for each appointment.

Everything about Martinez-Clarks life changed during this time. After the mastectomy, she had drainage tubes placed on each side to help her heal properly, and her husband and mother had to help her change dressings. She went from having a busy life running her clinic of approximately 20 employees, caring for her toddler and dealing with daily tasks to putting everything on hold for a solid two months. She spent four weeks in recovery, and there was another four weeks where she couldnt lift more than 10 pounds something that put returning to work out of question.

She also wasnt able to take care of her son by herself, which was hard because the two were thick as thieves, Martinez-Clark said.

I had to learn how to ask for help and let somebody help me. Im really bad at that, but I had to, Martinez-Clark said.

Family and friends became essential during this time. Her husband, Trent Clark, helped find surgeons who accepted their insurance, and offered her both emotional and physical support. Martinez-Clarks mother moved in with her after her first surgery to help with her son and run her business. This provided an opportunity for the two of them to connect in a way they hadnt in years.

Her aunts were also immensely helpful in helping her find peace with her decision to seek early treatment. She remembers asking her Aunt Jan, who had already battled stage 4 breast cancer, if she would make the same decision when she was 30 years old if she knew everything she would go through.

The answer: In a heartbeat.

Martinez-Clark said the memory of sitting with her in the cancer center when she first underwent chemotherapy makes her thankful genetic testing is available for women at high risk of developing hereditary breast cancer.

I think knowledge about your family history, your personal medical history, especially if youve undergone the genetic testing and you know these things upfront, then thats power to fight it, and you win the battle before it starts, Martinez-Clark said.

During her treatment, her church family brought Martinez-Clark a bounty of food. But despite the support, Martinez-Clark said she tried not to make a big deal out of it since she didnt have breast cancer.

She has since learned to think of herself as a pre-vivor.

I decided its OK to acknowledge that I did go through something and (am) making a difference for the future of my health, she said.

If not for the screening questionnaire at her annual screening, Martinez-Clark believes she never would have considered seeking a prophylactic mastectomy and treating breast cancer before being diagnosed. An initial MRI did not reveal much, and while there was one area that was tested after surgery, everything came back negative.

Now, Martinez-Clark sees her story as a way to dispel myths that surround breast cancer. One is the idea that a preventative mastectomy would affect fertility. Martinez-Clark is expecting a daughter and said she is glad to show surgery didnt hurt her chances of having another child.

While doctors recommend she have a total hysterectomy at 35, she said it is a decision she will approach when the time comes.

Another myth is the idea that the paternal familys history of cancer isnt as important in inheriting breast cancer; while her mothers side of the family had some breast cancer history, her fathers side has a much higher prevalence of familial cancer.

Martinez-Clark said she wants to fight breast cancer however she can, whether through educating people on the subject of genetic testing, volunteering for school supply drives with her clinic, or just filling a need in the community.

Although much of her life is unchanged post-mastectomy, Martinez-Clark said she has become a lot more confident. Shes even used her experience to change how she and her employees treat and counsel patients. Since her clinic provides a lot of primary care and sees many people of lower socioeconomic status who cannot see a regular OB-GYN, she has educated her patients on options they have if facing breast cancer themselves.

Its still kind of newer health information, the genetic testing, and what the options are for it, so the unknown is scary for a lot of people, Martinez-Clark said. Thats why its important to get this information out and help people know that its available and to be proactive in accessing their health status and in making choices to move forward with it.

See original here:
Genetic testing helps New Albany woman 'win the battle before it starts' - Northeast Mississippi Daily Journal

Recommendation and review posted by Bethany Smith

It wasnt so long ago that doctors refrained from calling breast or ovarian cancers by name.

After patients mostly women died from the disease, family often avoided talking about it, said Dr. Arlene Ricardo, breast cancer surgeon at Memorial Hermann Southwest Hospital.

Until about 30 years ago, most women did not know their familys history of breast, ovarian or other gynecological cancers. They had no idea what to expect in mid-life, Ricardo said.

A lot has changed in three decades: The stigma of talking about cancer has faded; the mortality rate for breast cancer has dropped; and genetic testing can now show patients whether they have genes that can cause specific cancers.

On RenewHouston.com: Do I need a mammogram?

A gene mutation is an alteration in a persons DNA pattern that puts them at a higher risk for certain diseases. There are 10 genes that increase a womans risk of breast cancer. The two most common genes are referred to as BRCA1 and BRCA2 genes, Ricardo said.

Less than 1 percent of the population carries one of these mutations, and only 5 percent of all breast cancers are associated with these genes, she said. But those that do test positive for the mutation are 58 percent more likely to develop breast cancer by the time they turn 50, and up to 90 percent after the age of 70.

You must have one known gene mutation in the family

You have been diagnosed with breast cancer less by the age of 45

You have been diagnosed with two cancers (i.e. two breast cancers) before the age of 50

You are younger than 50 and have two relatives diagnosed with breast or prostate cancer

You are younger than 60 and are diagnosed with triple-negative breast cancer

You have a family member that was diagnosed with breast cancer when they 50-years-old or younger

You or a family member have been diagnosed with ovarian cancer

There is an instance of male breast cancer in your family

Source: Memorial Hermann

Its almost a guarantee that you will develop breast cancer with the mutation, Ricardo said. For ovarian cancer, its 25 percent by the time you reach 50-years-old and 60 percent by the time you reach 70 extremely high risk.

Actress Angelina Jolie announced in 2013 that she was positive for the BRCA1 gene and underwent a preventive double mastectomy. Since then, more women have asked about genetic testing but not just anyone qualifies for it, Ricardo explained.

BRCA1 and BRCA2 genes also increase the risk of fallopian tube cancer, peritoneal cancer and pancreatic cancer. One out of every 100 men with these genes will develop breast cancer or prostate cancer, according to the American Cancer Society.

In 2016, researchers found that Jolies announcement increased genetic testing recommendations and preventive measures by oncologists, including risk-reducing surgeries for BRCA carriers with breast cancer.

More women have asked for genetic testing in the last decade, but the practice is not as common, or as necessary, as annual mammograms, Ricardo said.

Unfortunately, most people learn about their mutations because they have already been diagnosed with breast cancer.

In Yolanda Espericuetas case, it was triple-negative breast cancer a fast-spreading variation of the cancer with limited treatment options and a high mortality rate at the age of 59.

While triple-negative breast cancers account for 10 to 15 percent of all breast cancers, they are more common in women younger than 40, Black women and those who have a BRCA1 mutation, according to the American Cancer Society.

Espericueta never felt a lump in her breast. Neither did her doctors when her annual mammogram came back with evidence of a mass.

I remember I was working when the doctor called me to confirm it was breast cancer, Espericueta said. What hurt me the most was thinking about how I would break the news to my family. I was more terrified of that (than the cancer).

Espericueta met two of the criteria needed for genetic testing: her triple-negative breast cancer diagnosis before the age of 60 and a sister dying of ovarian cancer in her 30s. She tested positive for the BRCA-1 gene after her diagnosis.

On RenewHouston.com: Rare, but not impossible: Male breast cancer remains low, but mortality rates are much higher than women

Espericueta underwent six months of chemotherapy before undergoing a double mastectomy and reconstructive urgery in mid-2019. She lost all of her long curly hair in the process, which she remembers as being one of the hardest parts.

She had one daughter, Jennifer Alba, whom she raised mostly on her own. Alba was 35 when her mother was diagnosed, and later that year, she too tested positive for the BRCA-1 gene.

When (my mother) found out, she felt guilty; she felt like she gave it to me, Alba said. But I told her that the only thing she gave me was a silver lining. Now at least, I can do something about it ahead of time.

Alba and has either a mammogram or MRI every six months. The plan was to have a double mastectomy and a hysterectomy after she was married earlier this year, but COVID-19 has caused her to reschedule until early 2021.

The hardest part was the necessary decision to stop trying to have more children, said Alba, who has a 6-year-old son and a 3-year-old daughter.

Im 36, and (my husband is) 43; were not in our 20s, so it felt like a good point to stop, but this made the decision for us, she said. Its taking the decision away from you like it or leave it.

Ricardo said identifying people with mutated genes after their cancer diagnosis is important because it will lead to relatives who may be at risk, which gives them time to prevent the cancers from occurring at all.

And its not only women who will be affected men who test positive for the gene may not develop breast or prostate cancers, but they can pass the gene to their children.

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People forget that males eventually father female children, she added. Its all children male, female, sisters, brothers. If you test someone with the mutation, each individual family member has a 50-50 chance of having it.

When her children are old enough, Alba plans to talk to them about the need for genetic testing.

Its not going to affect them any time soon, but I will tell them about my journey and my moms journey and guide them in their decision making, Alba said.

julie.garcia@chron.com

Twitter.com/reporterjulie

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What is the BRCA gene and should you get tested for it? - Houston Chronicle

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By Lydia Denworth, Spectrum, Brendan Borrell, SpectrumOct. 14, 2020 , 11:30 AM

Originally published onSpectrum

Allyson Berentis a specialty veterinarian in New York City. She treats animals that other doctors cannot help. When no good therapies are available, she invents one. Cats and dogs consumed almost all of her timeuntil 6 years ago, when her second daughter was born.

As a baby, Quincy appeared healthy and happy, smiling at an early age and giggling frequently. But during her first few months of life, she missed many developmental milestones: At 10 weeks, she was not making eye contact. When her parents waved toys in front of her, she stared blankly. She had trouble feeding. And when she was lying on her stomach, she could not lift her head.

Doctors kept tellingBerentand her husband to give it time, but the couple insisted on genetic testing: At 7 months old, their daughter was diagnosed withAngelman syndrome, a neurodevelopmental condition that affects as many as one in 12,000 people.

Most people with Angelman syndrome have severe intellectual disability. They never talk or live an independent life. They experience seizures, gut issues, and sleeping and feeding difficulties. Due to balance and motor problems, they are usually unable or barely able to walk. Many also meet the diagnostic criteria for autism.

Within days of learning her daughters diagnosis, Berent set herself a new goal: curing Quincy. With her medical background, she had no trouble parsing the scientific research on Angelman syndrome. She learned that it stems from a missing or mutated copy of a gene calledUBE3A, which generates a protein essential for healthy brain activity. People inherit two copies of UBE3A, one from each parent, but the paternal copy is typically silent. In about 70% of people with Angelman, the maternal copy is absent, and they produce none of the protein. Many others with the syndrome have a small mutation in the mothers copy, rendering it ineffective.

Eager to learn as much as she could, Berent set an alert for "Angelman"in her account with PubMed, the medical journal database. Almost immediately, in December 2014, a paper landed in her inbox that suggested a bold path forward: Researchers had found a way,using snippets of RNAthat bind to DNA, to activate the silent copy of UBE3A in a mouse model of Angelman syndrome. And activating the paternal copy of the gene had reversed memory problems in these mice. Could the same thing be done for Quincy? I went out on a mission to say that I was going to ensure that happened for her, Berent says.

In March of this year, a child with Angelman syndrome received the first dose of a therapy similar to the one used in the mice. The therapy, dubbed GTX-102, comes from a company called GeneTx Biotherapeutics, founded by Berent and other Angelman parents. Berent also works with a foundation to accelerate other therapies aimed at boosting the missing protein at the heart of Angelman.

GTX-102 is one of a fast-growing number of gene therapies coming to market. Gene therapies replace, repair, activate or silence a gene sequence underlying a condition, rather than addressing its traits. Traditionally, the term "gene therapy"applied only to gene replacement, but as a variety of approaches have shown promise, the phrase has come to refer to all treatments that target DNA or RNA.

Gene therapies are now moving into the autism space, and the Angelman trial is a sign of things to come. A success in this space will completely change the way that we think about genetic testing in autism, saysTimothy Yu, a neurologist and geneticist atBoston Childrens Hospital in Massachusetts. It will hold out the idea that if you can name the disease, you can actually do something to improve the quality of life for that child.

Other companies are developing gene therapies for Angelman that are similar to GTX-102.In late August, Roche launched a clinical trial for its Angelman drug, and a therapy from Ionis Pharmaceuticals and Biogen is nearing human testing.The first gene therapy trial forRett syndrome, another single-gene condition related to autism, could start as early as next year. And a variety of experimental gene therapies for additional autism-linked conditions, includingfragile X syndromeandtuberous sclerosis,are under investigation in animal models. These treatments all target conditions involving just one gene, but some of what scientists learn from developing them pertains to a range of related conditions, including autism that results from more complex causes.

The initial trials of the GeneTx treatment, as with other early-stage tests, are arbiters of safety only. The trial, given the cheeky name KIK-AS, will have just 20 participants, and it will take at least until 2022 before the compound reaches large-scale clinical trials in children, at which point it will be evaluated for its efficacy. Even if a drug passes preliminary testing, it still might not work, or it may work only if started at birth or in the womb.

In other words, it might be too late for Quincy. Berent is clear-eyed about the challenges, but optimistic. I think this could be ground-breaking, she says.

Joint effort:Quincy, 6, has applied to participate in a trial of a gene therapy her mother, Allyson Berent, helped develop.

Until a few years ago, the idea of curing genetic conditions such as Angelman syndrome seemed outlandisheven irresponsible. No one wanted to sow false hope for families. There is already a dearth of treatments for conditions such as these. Their roots in the brain are complex, and getting gene therapies into the brain poses its own unique challenges. The blood-brain barrier, which protects the organ from harmful substances, complicates the delivery of any potentially therapeutic compound.

But unlike most causes of autism, syndromes such as Angelman, Rett, and fragile X have a clear therapeutic targetat least in theory. They can all be traced to one dysfunctional gene and either too much or too little of the protein it encodes.

In classic gene therapy, researchers insert a working version of a missing or mutated gene into an individuals cells. Generally, they load the healthy gene onto a harmless virus and inject it into a person; the virus infects their cells, delivering the new gene with it, and the cells begin to produce the missing protein. In 2017, the U.S. Food and Drug Administration (FDA) approved this type of gene therapy for vision loss and two types of cancer, and it has since given the green light to another two gene therapies.

One of these therapies, onasemnogene abeparvovec (marketed as Zolgensma), treats a neurodegenerative condition called spinal muscular atrophy that leads to the death of motor neurons early in life. Babies with the most serious form of the condition rarely live past their second birthday; others are never able to walk. If children receive a one-time infusionof Zolgensma, currently approved in individuals up to age 2, however, their motor neurons take up a working copy of the gene mutated in the condition, bolstering the cells survival and staving off the conditions consequences. The treatment, approved last year, demonstrated that a gene therapy could effectively reach brain cells, courtesy of an adeno-associated virus called AAV9 that crosses the blood-brain barrier.

Traditional gene therapies for Angelman and other genetic forms of autism are still in the early stages of development. But researchers have already delivered a gene for the protein missing in fragile X syndrome to mouse models of the condition. Thetreatment eased or reversedabnormal motor activity and anxiety problems in the animalsin a 2016 studyled by pharmacologistDavid Hampsonof the University of Toronto in Canada. Hampson is collaborating with biotech firms to test the therapy in people with fragile X syndrome, which is the most common inherited form of intellectual disability. There are strong incentives for moving into trials, he says.

Other therapies in the pipeline aim to control gene expression, and therefore how much protein a cell makes, rather than correcting a faulty genes DNA sequence. In one approach, including GeneTxs treatment for Angelman, short strings of modified DNA or RNA called antisense oligonucleotides home in on a genes RNA readout and change or disable its protein-making instructions. A promising feature of these molecules is that they are like switch hittersthey can turn production of a problematic protein on or off as needed.

GTX-102 works by interfering with the natural genetic brake that silences the paternal copy of UBE3A. In effect, it inhibits the inhibitor, thereby activating the gene.

A success in this space will completely change the way that we think about genetic testing in autism.

Three years before Zolgensma, the FDA approved an antisense oligonucleotide for spinal muscular atrophy called nusinersen and marketed as Spinraza. The drug, injected directly into the cerebrospinal fluid, binds to the RNA for a second motor neuron gene that, like the gene targeted by Zolgensma, encodes the protein missing in the condition. The binding alters the RNAs genetic instructions to boost production of the protein.

Because the drug compensates for, rather than corrects, the conditions underlying genetic fault, the more than 10,000 people worldwide who get Spinraza shots must take it every four months. But many have either regained or preserved their ability to stand, hold their head up or even walk. And if given early enough, the drug may protect children from the most severe aspects of the condition, orprevent them from developing it, according to preliminary results of a clinical trial that started in 2015.

Yet another strategy makes use of DNA-binding zinc finger proteins to boost the expression of specific genes. In July, Sangamo Therapeutics in Brisbane, California, announced a $720 million partnership with the drug maker Novartis to develop therapies that dial up the expression of three genes linked to autism andintellectual disability, although Sangamo has declined to name which genes the companies are targeting.

And gene-editing techniques might also be tapped to suppress gene expression or even correct mutations. In one study, researchers attached the gene-editingtechnology CRISPR/CAS 9to ananoparticleto disrupt the gene for mGluR5 receptors for theneurotransmitterglutamate, implicated in fragile X syndrome and other forms of autism. And one potentialprenatal therapy for Angelman syndromeharnesses the same gene-editing molecules to disable the RNA that muffles expression of UBE3A. In an unpublished study, injecting viruses carrying a CRISPR complex into the brains of fetal mice led tosome UBE3A expressionin neurons. It works incredibly well, and it lasts for a long time, saysMark Zylka, the neurobiologist at the University of North Carolina at Chapel Hill who led the work.

For all the promise of these strategies, moving from mice to people often delivers disappointment. The flagship example is thefailure of a clinical trialfor atreatment for fragile X syndromethat targeted mGluR5 receptors. Some 40 laboratories had produced promising results in mice. It looked like the perfect drug to translate into people, says pediatric neurologistElizabeth Berry-Kravisof Rush University Medical Center in Chicago, Illinois. How could it fail? And yet it did.

In retrospect, Berry-Kravis says, the trial design was flawed in part because researchers tested the drug in adults and adolescents even though young children are most likely to benefit. In developmental disorders, Berry-Kravis says, the money is in getting the kids as young as possible.

Berent was uniquely qualifiedand determinedto bridge the gap from animals to people for Angelman. Working at the Animal Medical Center, a research-oriented hospital in New York City, she was well-versed in animal research and regularly collaborated with scientists and doctors to test medical devices in animals. If I can do anything, I can take that animal work and translate that to humans, she says.

Her experience as a mother gave her little faith in what medicine might offer without her involvement. From birth, Quincy did not nurse as readily as her older sister had. At 1 month old, she was aspirating milk and struggling to breathe, so her parents took her to the emergency room. She was discharged after 8 days on a feeding tube. But back at home, Quincys suckle remained weak. It was just liquid going into her mouth, and we were lucky that she swallowed it, Berent says.

She and her husband, also a veterinarian and researcher, grew increasingly distraught reading weekly emails they had signed up for that described developmental milestones they should have been noticing. Doctors kept dribbling out piecemeal answers. Their pediatrician, for example, suggested Quincys lazy eye or too little time spent lying on her stomach might explain her motor and sensory delays. Berent and her husband were sure their daughter had a more serious condition.

Even a neurologist the family saw took a narrow view of Quincys problems. He looked only for signs of brain swellingand found none. Against that doctors advice, they pursued genetic testing. Several weeks later, in late November, Berent got a call from a doctor who said he had catastrophic news. Quincy had Angelman syndrome, he soon told them in person.

Berent had never heard of it. She typed it into Google and found listed all of the characteristics she had seen in her daughter: a lazy eye, a flattened head, feeding problems, even irrepressible good humor. She was like the poster child for this, she says. I realized at that moment that I would always know more about my child and that disorder than any physician would.

Within days, Berent calledArthur Beaudet, the geneticist who had led the Angelman mouse study when he was at Baylor College of Medicine in Houston, Texas, to find out what the next step was. Allyson wanted to talk about a cure from the moment she knew what she was dealing with, he says, recalling their initial conversation. Beaudet explained to Berent that the therapy was in the hands of Ionis Pharmaceuticals, which had provided him with the molecules to test. But the company had a track record of working with parentsit was about to launch Spinrazaand so Beaudet connected Berent withFrank Bennett, chief scientific officer at Ionis, who had helped develop that drug.

How could she help? Berent asked Bennett. He suggested she spearhead efforts to access and verify data on the typical course of the disease. Those data could serve as a benchmark in future clinical trials. Berent got to work but, as time wore on, realized Ionis was unlikely to follow a mothers timeline, driven solely by urgency. If you are 50thin the pipeline, when are they going to get to you? she says.And there were already delays. According to Beaudet, the company was struggling to produce a mouse with the human UBE3A gene to test its oligonucleotides. (An Ionis spokesperson says its Angelman candidate was a priority at the time.)

Over the next few months, though, Berent learned of other groups exploring gene replacement and other therapies for Angelman. As she delved into the science and circulated at conferences, she began to sense a gap in the efforts to jump from the lab to real-life treatments for children such as Quincy.

At a scientific meeting on Angelman in Chicago in 2015,Paula Evansnoticed Berent furiously typing up notes and taking pictures of slides. Evans, a former real-estate agent whose daughter has Angleman, established theFoundation for Angelman Syndrome Therapeutics (FAST)based in Downers Grove, Illinois. The actor Colin Farrell, whose son has Angelman, is its de facto spokesperson. But even against that celebrity backdrop, Berent stood out. I could tell by watching her that she was going to be a force within the Angelman community, Evans says. And in Evans, Berent saw a like mind: She had every intent of doing exactly what I hoped would be done, Berent says.

Evans invited Berent to serve on the FAST board and, by early 2016, to be the foundations chief science officeran unpaid position. Berent was pregnant with her third daughter, running a full-time veterinary practice and juggling various research projects, but she says there was no way she could refuse. In her off-hours and on vacation days, she reviewed the foundations research. She and the FAST team created what they called a Roadmap to a Cure, which meant supporting six academic research teams on different therapeutic tacks, including antisense oligonucleotides and traditional gene therapy.

To pay for the effort, FAST upped its fundraising, and Berent too brought her money game. She hired a development firm to find big donors and struck up a Facebook friendship with another Angelman parent, who turned out to be part of the family behind Grand Marnier liqueur. In 2016, the Marnier-Lapostolle Foundation donated $5.8 million to FAST. With funding in place, Berents job shifted to project manager, keeping all six teams on track. It kept us on task in an unbelievable way, saysScott Dindot, a geneticist at Texas A&M University in College Station. She deserves all the credit.

My middle name is ASAP, Berent says. Chop-chop.

Pipetting progress:Researchers are exploring a host of gene therapies for autism-related conditions in the lab.

By the time Berent created her road map, another mother,MonicaCoenraads, was already 16 years deep into a comparable attempt to cure Rett syndrome. When Coenraads daughter Chelsea, now 24, was diagnosed with Rett at age 2, the cause of the syndrome was unknown. Researchers soon discovered the faulty gene at its core:MECP2.

Mutations in MECP2 lead to low levels of functional MECP2 protein, a master regulator of gene expression. As a result, people with Rett have wide-ranging difficulties, such as intellectual disability, motor and breathing problems, and, often, autism. Because MECP2 is on the X chromosome, the condition affects girls almost exclusively. Boys have only one X chromosome and one copy of MECP2. When that copy is mutated, it can cause such severe traits that they rarely live past early infancy.

Like many other girls and women with Rett, Chelsea is nonverbal and cannot use her hands. She is fed through a tube and has frequent seizures. She also haschronic sleep problemsand severeanxiety. Although some women with Rett can walk independently, Chelsea never has. Shes completely dependent on me for everything, Coenraads says.

Coenraads quest began as soon as Chelsea was diagnosed. In 1999, Coenraads created the Rett Syndrome Research Foundation to channel her efforts. Then, in 2008, she started yet another organization, theRett Syndrome Research Trust, to focus exclusively on finding a cure. Over the past 10 years, she has raised more than $60 million to support research on a host of gene therapies for Rett, including gene replacement and gene editing. In 2014, the trust established a consortium of gene therapy experts and Rett researchers. Our goal is to try to act as an incubator or accelerator, Coenraads says. Weve been pretty aggressive in terms of funding a number of different strategies, because we dont know which one is going to work.

So far, the effort has yielded two gene-therapy candidates. The first, which would deliver a functional MECP2 gene to cells, was supposed to go to trial in 2019. That was put on hold when the FDA accused AveXis, the company running the trial, of data manipulation in connection with another one of its drugs. The company fired several executives and started fresh. In August, AveXis reported to the Rett community that its preclinical studies were almost complete and that it aims to file an investigational new drug application, the precursor to a clinical trial, in the coming months.

Taysha Gene Therapies is shepherding the second Rett drug prospect, slated to enter clinical trials sometime next year. Tayshas technology would also deliver a working MECP2 gene to cells and includes a molecular device that calibrates how much protein is produced. This control is critical: Too little MECP2 protein leads to Rett, but too much results in MECP2 duplication syndrome, a condition that also causes intellectual disability, seizures, and autism traits. The new therapy acts more like a knob than a sledgehammer, saysClaire Aldridge, who leads business development at the University of Texas Southwestern Medical School in Dallas, Tayshas partner in the project.

Coenraads organization also supports research on other genetic approaches. Because women with Rett have a healthy, inactive copy of MECP2, some researchers are trying to reactivate it using CRISPR. The enzyme is designed tomodify DNA to turn on expression, a technique the same researchers have used successfully with fragile X. Editing RNA represents another strategy, which biochemistGail Mandelof Oregon Health and Science University in Portland is exploring. She aims tocorrect the mutation in the RNAtranscript for MECP2, using RNA "guides."The guides escort an editing enzyme into cells, hijacking the natural editing process. The techniquewhich so far has worked in cultured cells and in miceeliminates the risk of overexpressing the MECP2 protein because, unlike DNA, unused RNA degrades quickly.

Researchers at Ionis and Baylor College of Medicine are also developing a therapy for MECP2 duplication syndrome in which antisense oligonucleotides silence the extra copy of MECP2 affected people carry. In 2015, the Baylor team showed that delivering the therapy to a mouse model repaired molecular defects characteristic of the condition andeased lethargy, anxiety,and unusual social behaviors in the mice. The technology can be delivered in controlled amounts and is also reversible, Bennett says. If we happen to overshoot, we can withdraw the drug and [the level of protein] reverses back. That gives us a lot of hope.

In addition to looking at dose, researchers are also testing the timing of genetic treatments. In some cases, the optimal time may be in the womb. After all, conditions such as Rett, Angelman, and autism all affect how the brain gets built. We need to go as early as possible, Zylka says. Prenatal intervention is going to be the optimal time to treat. When researchers explored reactivating UBE3A in a mouse model at different phases of development, they found that they needed toturn the gene on before birthto rescue most traits of Angelman.

But other work suggeststreating later in life is hardly futile. In 2007, geneticistAdrian Birdof the University of Edinburgh in Scotland createdmice with a genetic switchto turn on or off the expression of MECP2. Turning on gene expression dialed down features of Rett syndrome such as motor and breathing problemseven in adult mice. Another therapy for Angelmanthe one that inspired Berent in 2014also showed success in mature animals, raising hopes for treatments delivered after birth.

Parent pioneer:Allyson Berent helped launch a company to produce a genetic fix for Angelman syndrome, her daughters condition.

Around midnight one Friday in April 2017, Berent got a message from Dindot. It was a picture of mouse neurons glowing fluorescent green, with a note that said something like, You need to see this. What the glow indicated is that his team had activated the paternal copy of UBE3A in mice using antisense oligonucleotides, the same type of molecules Ionis and Beaudet had tested.

Over the course of a few meetings, FAST board members debated what to do. In three years, they say, they had seen little progress on Angelman therapies from Ionis or any other drug company that had entered the race. There was no confidence from us that any pharmaceutical company was going to bring something to the clinic, Evans says.

So the FAST leadership decided to do it themselves: They licensed the patent for the oligonucleotides from Dindots lab at Texas A&M and, in December 2017, launched GeneTx with investments from Angelman families and friends. They were in mostly uncharted spacea room full of Angelman parents planning to go head-to-head against veteran drug makers. Berent became GeneTxs chief operating officer and Evans the chief executive officer, both drawing a salary for their work for the first time.

The science also moved quickly. Over the next year or so, Dindot demonstrated that the companys drug candidate activated UBE3A in cultured human neurons and in the neurons of live crab-eating macaques, whose UBE3A gene resembles the human one. Meanwhile, Evans enlistedJennifer Panagoulias, a drug-industry veteran whose niece has Angelman, to help them cross regulatory hurdles at the FDA and get a clinical trial approved. In August 2019,Ultragenyx, a biopharmaceutical company in Novato, California, paid $20 million for an exclusive option to purchase GeneTx, pending the outcome of that trial, which Ultragenyx is funding. The FDA gave the go-ahead to start the trial in early 2020.

Looking ahead, the team could face legal obstacles along with scientific ones. There may be a patent fight down the road, Beaudet says. Its kind of interesting to watch it all evolve.

If I can do anything, I can take that animal work and translate that to humans.

One concern is that restoring UBE3A wont make a difference for all Angelman children, who can have different underlying mutations. Many with a deleted gene, including Quincy, are often also missing neighboring genes on the same chromosome, resulting in a lack of those proteins as well. Whatever happens, Beaudet credits Berent with pushing the field forward. She definitely has triggered faster movement, he says.

Also, antisense oligonucleotides must be given repeatedly. Like Spinraza, GTX-102 is injected into the cerebrospinal fluid every 4 months. If it reaches the clinic, it may one day be overtaken by one-time therapies that Berent is also pursuing. A traditional gene-replacement therapy for Angelman, also funded by FAST, is being tested in animals at the University of Pennsylvania, according toJames Wilson, who directs the Gene Therapy Program there. A parallel effort at the University of South Florida is inching forward, and the CRISPR-based therapies, which could also be one-time fixes, are several years from human testing.

Though Angelman families dream of cures, any treatment that enables their children to communicate or gives them a measure of independence would be welcomed. If they talk at all, thats a huge thing, Berry-Kravis says. Being able to walk over different surfaces, being able to use a spoon and fork. These are things that would be meaningful.

And the GTX-102 trial has enormous significance for neuroscience, Berry-Kravis says. It will help us a lot with understanding whether we can reverse disorders later in life, and how much. It may also bring us closer to the day when there is an array of standard gene-therapy technologies that scientists can retrofit to any condition. Many expect researchers will uncover more autism-linked conditions that, like Rett and Angelman, are driven by a single gene. Gene therapies might also be able to treat more complex forms of autism. A next step might be uncovering forms of autism linked to just two or three genes and then targeting those.

Quincy, now 6 and in kindergarten, has applied to participate in the first phase of the GeneTx trial. Quincy can walk, though her balance is poor and she falls frequently. Though she is nonverbal, she knows some numbers and letters and communicates using a picture-based system on a tablet. Quincy spent two years learning to crawl and six years mastering waving hello. Like her mother, difficulty does not deter her. Says Berent, She has taught us so much about life and grace.

This article was reprinted with permission fromSpectrum,the home of autism research news and analysis.

*Correction, 19 October, 3:15 p.m.:A previous version of this article incorrectly stated that Zolgensma is administered via injection. It is delivered through an infusion.

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Is gene therapy ready to treat some forms of autism? - Science Magazine

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Cardiovascular Genetic Testing Market to Witness High Growth in Near Future and Competitive Analysis - PRnews Leader

Recommendation and review posted by Bethany Smith

Data from NYU Langone Fertility Center Study Presented atAmerican Society of Reproductive Medicine Annual Meeting

TRUMBULL, Conn. and NEW YORK, Oct. 19, 2020 (GLOBE NEWSWIRE) -- CooperSurgical and NYU Langone Fertility Center (NYULFC), part of The Prelude Network, announced today independent study results demonstrating increased ongoing pregnancy and live birth rates associated with the use of CooperSurgical's PGTai 2.0 technology to screen embryos for in vitro fertilization (IVF).1 This single-center study was conducted by NYULFC; and results were presented today at the American Society of Reproductive Medicine (ASRM) Virtual Scientific Congress.

Preimplantation Genetic Testing for aneuploidy (PGT-A) is performed on embryos produced through IVF; it provides genetic information to help identify embryos that are more likely to result in a successful pregnancy. PGTai 2.0 is an advancement in PGT-A testing that utilizes artificial intelligence to increase objectivity of this screening process.

This research moves us an important step closer to our goal of increased live births, improved pregnancy outcomes and further reduction of multiples in pregnancy through greater confidence in single embryo transfer, said James A. Grifo, M.D., Ph.D., Director, NYU Langone Fertility Center.

An estimated 48.5 million couples approximately 15% of couples -- are affected by infertility worldwide.2 80,000 babies were born with IVF in 2017 in the United States3 and more than one million babies were born in the period 1987 to 2015 in the United States as a result of IVF.4

The study is a demonstration of CooperSurgicals commitment to developing the most advanced technology in the field of genetic testing to advance reproductive medicine and help families, said Tony Gordon, Vice President of Business Development, CooperGenomics. By applying artificial intelligence in the PGTaism2.0 technology, we leverage mathematical algorithms derived from real-world data to achieve objective embryo assessment.

About the Study The retrospective study included data from more than 700 patients in the NYU Langone Fertility Center in New York, N.Y.

The study compared results from three next generation sequencing (NGS) genetic tests: Standard NGS, NGS with first generation artificial intelligence (PGTai 1.0 Technology Platform) and NGS with second generation artificial intelligence (PGTai 2.0 Technology Platform). The ongoing pregnancy and live birth rates significantly increased by a relative 13 percent in the PGTai 2.0 group as compared to subjective and prior methodologies.

Study results also suggest that the increase in ongoing pregnancy and live births may be linked to improvements in several preceding IVF outcomes (implantation rates, clinical pregnancy rates and pregnancy loss).

About NYU Langone Fertility CenterNYU Langone Fertility Centerprovides world class science and exceptional clinical care to patients seeking fertility treatment. For over 25 years, the Fertility Center has been on a mission to help educate women and men about their reproductive health, and to deliver data-driven guidance at each step in the fertility care process. NYU Langone Fertility Center is proud to serve all families with compassionate, individualized, and cost-effective treatment options.

The Fertility Center has helped thousands of patients realize their dreams of having a family, and its dedicated physicians have over 125 years of collective experience performing IVF. Each physician is certified in Reproductive Endocrinology and Infertility (REI) with the American Board of Obstetrics and Gynecology, and many of its physicians also hold Professor or Assistant Professor positions within the Department of Obstetrics and Gynecology at NYU Langone Health. While they are physicians first and foremost, the Fertility Centers physicians are also active participants in clinical research to advance the safety, success, and affordability of fertility care.

About CooperSurgical CooperSurgical is a leader in delivering innovative assisted reproductive technology and genomic solutions that enhance the work of ART professionals to the benefit of families. Its experience working with embryologists and IVF professionals across the globe, and offering a portfolio of products for the entire ART process, means that it can help meet the exacting needs of ART clinics.

CooperSurgical is a wholly-owned subsidiary of CooperCompanies (NYSE: COO). CooperSurgical headquartered in Trumbull, CT, produces and markets a wide array of products and services for use by womens health care clinicians. More information can be found at fertility.coopersurgical.com.

About CooperCompaniesCooperCompanies ("Cooper") is a global medical device company publicly traded on the NYSE (NYSE:COO). Cooper operates through two business units, CooperVision and CooperSurgical. CooperVision brings a refreshing perspective on vision care with a commitment to developing a wide range of high-quality products for contact lens wearers and providing focused practitioner support. CooperSurgical is committed to advancing the health of women, babies and families with its diversified portfolio of products and services focusing on medical devices and fertility & genomics. Headquartered in San Ramon, CA, Cooper has a workforce of more than 12,000 with products sold in over 100 countries. For more information, please visit http://www.coopercos.com.

Contacts:

CooperSurgicalCaren BegunGreen Room Communications201-396-8551caren@greenroompr.com

NYU Langone Fertility CenterMia HumphreysKrupp Kommunications239-297-6592Mhumphreys@kruppnyc.com

________________________________1 Buldo-Licciardi J, Large M, McCulloh D, McCaffrey C, Grifo J. Second generation artificial intelligence technology for preimplantation genetic testing (PRT) improves pregnancy outcomes in single thawed euploid embryo transfer cycles (STEET). Presented at American Society for Reproductive Medicine on October 19, 2020. Available at: https://asrm.confex.com/asrm/2020/meetingapp.cgi/Paper/8645. Accessed October 13, 2020.2 Agarwal A, Mulgund A, Hamada A, Chyatte MR. A unique view on male infertility around the globe. Reprod Biol Endocrinol. 2015;13:37. Published 2015 Apr 26. doi:10.1186/s12958-015-0032-1. Accessed October 13, 2020. 3 Centers for Disease Control and Prevention. ART Success Rates. Available at: https://www.cdc.gov/art/artdata/index.html. Accessed October 13, 2020.4 Centers for Disease Control and Prevention, American Society for Reproductive Medicine, Society for Assisted Reproductive Technology. 2015 Assisted Reproductive Technology National Summary Report. Available at: https://www.cdc.gov/art/pdf/2015-report/ART-2015-National-Summary-Report.pdf. Accessed October 13, 2020.

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CooperSurgical and NYU Langone Fertility Center Announce Study Data Showing Significant Increase in Ongoing Pregnancy and Live Birth Rates with...

Recommendation and review posted by Bethany Smith

COVID-19 impact will also be included and considered for forecast.

Global Genetic Testing Market research report provides detail information about Market Introduction, Market Summary, Global market Revenue (Revenue USD), Market Drivers, Market Restraints, Market Opportunities, Competitive Analysis, Regional and Country Level.

Genetic Testing Market Size Covers Global Industry Analysis, Size, Share, CAGR, Trends, Forecast And Business Opportunity.

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The detailed market intelligence report on the Global Genetic Testing Market applies the most effective of each primary and secondary analysis to weighs upon the competitive landscape and also the outstanding market players expected to dominate Global Genetic Testing Market place for the forecast 2019 2025.

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Report evaluates the growth rate and the Market value based on Market dynamics, growth inducing factors. The complete knowledge is based on latest industry news, opportunities and trends. The report contains a comprehensive Market analysis and vendor landscape in addition to a SWOT analysis of the key vendors.

Geographically, this report split global into several key Regions, revenue (Million USD) The geography (North America, Europe, Asia-Pacific, Latin America and Middle East & Africa) focusing on key countries in each region. It also covers market drivers, restraints, opportunities, challenges, and key issues in Global Genetic Testing Market.

Key Benefits for Genetic Testing Market Reports

Global market report covers in-depth historical and forecast analysis.

Global market research report provides detail information about Market Introduction, Market Summary, Global market Revenue (Revenue USD), Market Drivers, Market Restraints, Market Opportunities, Competitive Analysis, Regional and Country Level.

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Genetic Testing Market Segmentation:

Segmentation by Type:

Newborn Screening Diagnostic Testing Carrier Testing Preimplantation Genetic Diagnosis Prenatal Diagnosis Predictive and Presymptomatic Testing Pharmacogenomics

Segmentation by Application:

Cardiology Dermatology Hematology Hereditary Cancer Immunology Metabolic Disorders and Newborn Screening Neurology Ophthalmology Pediatric Genetics Others

By Region

North America

USA

Canada

Mexico

Europe

UK

France

Germany

Russia

Rest of Europe

Asia-Pacific

China

South Korea

India

Japan

Rest of Asia-Pacific

LAMEA

Latin America

Middle East

Africa

Genetic Testing Market Key Players:

GeneDx Invitae Pathway Genomics United Gene HI Gene Berry Genomics 23andMe Inc 360Jiyin Novogene CapitalBio Agen Biomedlab Biomarker Annoroad Aiyin Gene Aijiyin Repconex Counsyl Inc Asper Biotech GenePlanet Courtagen Life Sciences Gene By Gene Natera Inc Regulatory GeneTests Find Bio-Tech SinoGenoMax Gene Kang Geeppine BGI

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Strengthen your analysis of competitors

Provide risk analysis, helping you avoid the pitfalls other companies could make

Ultimately, help you to maximize profitability for your company.

Our Market Research Solution Provides You Answer to Below Mentioned Question:

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How big is the global & regional market in terms of revenue, sales and production?

How far will the market grow in forecast period in terms of revenue, sales and production?

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Our Market Research Solution Provides You Answer to Below Mentioned Question:

Which are the driving factors responsible for the growth of market?

Which are the roadblock factors of this market?

What are the new opportunities, by which market will grow in coming years?

What are the trends of this market?

Which are main factors responsible for new product launch?

How big is the global & regional market in terms of revenue, sales and production?

How far will the market grow in forecast period in terms of revenue, sales and production?

Which region is dominating the global market and what are the market shares of each region in the overall market in 2017?

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Which region has more opportunities?

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Genetic Testing Market 2020: Challenges, Drivers, Analysis, Types, Applications and Forecast 2025 - The Think Curiouser

Recommendation and review posted by Bethany Smith

Contrive Datum Insights has added a new report, titled as Direct-to-consumer Genetic Testing market. It includes the analytical data of target industries, which provides different insights to drive the businesses. For growth of the industries, it gives more focus on the ongoing trends and studies the recent developments in Direct-to-consumer Genetic Testing market. It covers different aspects of this industry which helps to comprehend the manufacturing and service process. It focuses more on the specifications of the products or services, which helps to increase the customers rapidly. Additionally, this report is summarized with different segmentation types along with its subtypes. To present the growth rate, it uses graphical presentation techniques.

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The report on the Direct-to-consumer Genetic Testing market offers a microscopic view of the Direct-to-consumer Genetic Testing market and ponders over the various factors that are likely to influence the dynamics of the Direct-to-consumer Genetic Testing market during the forecast period (2020-2027). The detailed study offers valuable insights related to the micro and macro-economic factors, year-on-year growth of the different market segments, supply chain, value chain, and other parameters of the Direct-to-consumer Genetic Testing market.

The following manufacturers are covered in this report:

23andMe, LabCorp, Myriad Genetics, Quest Diagnostics, African Ancestry, Alpha Biolaboratories, Ambry Genetics, AncestrybyDNA, Anglia DNA Services, Canadian DNA Services, Centrillion Technology, Color Genomics, Counsyl, Dante Labs, DNA Diagnostics Center, DNA Family Check, DNA4Life, DNA Services of America, EasyDNA, Full Genomes, 24genetics, Gene By Gene, GHC GENETICS, Genetic Health, IDENTIGENE, IntelliGenetics, Invitae, Living DNA, Walk-In Lab, Xcode, Mapmygenome, MyHeritage, Pathway Genomics, Positive Bioscience, SureGenomics, Shuwen Health Sciences, Sonora Quest Laboratories, Test Me DNA, VCGS.

The top key driving factors are included in the report along with the restraints, and opportunities, and that helps to indicate ups and downs of the businesses. For better understanding of the domestic and global framework, different attributes, such as working methodology, scope, future prediction, recent trends, investments, and profit are considered. Finally, it provides a better idea of this Direct-to-consumer Genetic Testing market, during the forecast period.

Competition AnalysisIn the competitive analysis section of the report, leading as well as prominent players of the global Direct-to-consumer Genetic Testing market are broadly studied on the basis of key factors. The report offers comprehensive analysis and accurate statistics on sales by the player for the period 2015-2020. It also offers detailed analysis supported by reliable statistics on price and revenue (global level) by player for the period 2015-2020.

Global Direct-to-consumer Genetic Testing Market Segmentation:

On the Basis of Type:Diagnostic ScreeningPrenatal, newborn screening, pre-implantation diagnosisRelationship testing

On the Basis of Application:Direct salesRetail salesLaboratory sales

Regions Covered in the Global Direct-to-consumer Genetic Testing Market: The Middle East and Africa (GCC Countries and Egypt) North America (the United States, Mexico, and Canada) South America (Brazil etc.) Europe (Turkey, Germany, Russia UK, Italy, France, etc.) Asia-Pacific (Vietnam, China, Malaysia, Japan, Philippines, Korea, Thailand, India, Indonesia, and Australia)

The report provides insights on the following pointers:

Market Penetration: Comprehensive information on the product portfolios of the top players in the Direct-to-consumer Genetic Testing market.

Product Development/Innovation: Detailed insights on the upcoming technologies, R&D activities, and product launches in the market.

Competitive Assessment: In-depth assessment of the market strategies, geographic and business segments of the leading players in the market.

Market Development: Comprehensive information about emerging markets. This report analyzes the market for various segments across geographies.

Market Diversification: Exhaustive information about new products, untapped geographies, recent developments, and investments in the Direct-to-consumer Genetic Testing market.

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Key Influence of the Direct-to-consumer Genetic Testing Market report:

Table of Content (TOC):

Chapter 1 Introduction and Overview

Chapter 2 Industry Cost Structure and Economic Impact

Chapter 3 Rising Trends and New Technologies with Major key players

Chapter 4 Global Direct-to-consumer Genetic Testing Market Analysis, Trends, Growth Factor

Chapter 5 Direct-to-consumer Genetic Testing Market Application and Business with Potential Analysis

Chapter 6 Global Direct-to-consumer Genetic Testing Market Segment, Type, Application

Chapter 7 Global Direct-to-consumer Genetic Testing Market Analysis (by Application, Type, End User)

Chapter 8 Major Key Vendors Analysis of Direct-to-consumer Genetic Testing Market

Chapter 9 Development Trend of Analysis

Chapter 10 Conclusion

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Direct-to-consumer Genetic Testing Market to Witness Huge Growth by 2027 - TechnoWeekly

Recommendation and review posted by Bethany Smith

The latest published an effective statistical data titled as Genetic Testing Services Market. It defines about the recent innovations, applications and end users of the market. It covers the different aspects, which are responsible for the growth of the industries. Different domains are considered on the basis of the capital of Genetic Testing Services market. The analyst examines different companies on the basis of their productivity to review the current strategies. All leading players across the globe, are profiled with different terms, such as product types, industry outlines, sales and much more.

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The study throws light on the recent trends, technologies, methodologies, and tools, which can boost the performance of companies. For further market investment, it gives the depth knowledge of different market segments, which helps to tackle the issues in businesses. It includes effective predictions about the growth factors and restraining factors that can help to enlarge the businesses by finding issues and acquire more outcomes. Leading market players and manufacturers are studied to give a brief idea about competitions. To make well-informed decisions in Genetic Testing Services areas, it gives the accurate statistical data.

The analyst also focuses on economic and environmental factors, which impacts on the growth of the businesses. For global analysis, the market is examined by considering the different regions such as North America, Latin America, Japan, China, and India. Leading companies are focusing on spreading their products across the regions. Research and development activities of the various industries are included in the report, to decide the flow of the market.

The major players profiled in this report include:Laboratory Corporation of America HoldingsQuest Diagnostics IncorporatedGenomic HealthNeoGenomics LaboratoriesEurofins ScientificAmbry GeneticsIlluminaNatera

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Competition Analysis

This report examines the ups and downs of the leading key players, which helps to maintain proper balance in the framework. Different global regions, such as Germany, South Africa, Asia Pacific, Japan, and China are analyzed for the study of productivity along with its scope. Moreover, this report marks the factors, which are responsible to increase the patrons at domestic as well as global level.

The end users/applications and product categories analysis:On the basis of product, this report displays the sales volume, revenue (Million USD), product price, market share and growth rate of each type, primarily split into-General Type

On the basis on the end users/applications, this report focuses on the status and outlook for major applications/end users, sales volume, market share and growth rate of Genetic Testing Services for each application, including-OncologyInfectious Diseases

It gives a detailed description of drivers and opportunities in Genetic Testing Services market that helps the consumers and potential customers to get a clear vision and take effective decisions. Different analysis models, such as, Genetic Testing Services are used to discover the desired data of the target market. In addition to this, it comprises various strategic planning techniques, which promotes the way to define and develop the framework of the industries.

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The reports conclusion leads into the overall scope of the global market with respect to feasibility of investments in various segments of the market, along with a descriptive passage that outlines the feasibility of new projects that might succeed in the global Genetic Testing Services market in the near future. The report will assist understand the requirements of customers, discover problem areas and possibility to get higher, and help in the basic leadership manner of any organization. It can guarantee the success of your promoting attempt, enables to reveal the clients competition empowering them to be one level ahead and restriction losses.

The content of the study subjects, includes a total of 15 chapters:

Chapter 1 Introduction and Overview

Chapter 2 Industry Cost Structure and Economic Impact

Chapter 3 Rising Trends and New Technologies with Major key players

Chapter 4 Global Genetic Testing Services Market Analysis, Trends, Growth Factor

Chapter 5 Genetic Testing Services Market Application and Business with Potential Analysis

Chapter 6 Global Genetic Testing Services Market Segment, Type, Application

Chapter 7 Global Genetic Testing Services Market Analysis (by Application, Type, End User)

Chapter 8 Major Key Vendors Analysis of Genetic Testing Services Market

Chapter 9 Development Trend of Analysis

Chapter 10 Conclusion

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Genetic Testing Services to Discern Magnified Growth During 2020-2025 - The Think Curiouser

Recommendation and review posted by Bethany Smith

Dataintelo publishes a detailed report on Direct-to-Consumer Genetic Testing (DTC-GT) market providing a complete information on the current market situation and offering robust insights about the potential size, volume, and dynamics of the market during the forecast period, 2020-2026. This report offers an in-depth analysis that includes the latest information including the current COVID-19 impact on the market and future assessment of the impact on Global Direct-to-Consumer Genetic Testing (DTC-GT) Market. The report contains XX pages, which will assist clients to make informed decision about their business investment plans and strategies for the market. As per the report by Dataintelo, the global Direct-to-Consumer Genetic Testing (DTC-GT) market is projected to reach a value of USDXX by the end of 2026 and grow at a CAGR of XX% during the forecast period.

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The Direct-to-Consumer Genetic Testing (DTC-GT) market report also covers an overview of the segments and sub-segmentations including the product types, applications, and regions. In the light of this harsh economic condition as prompted by the COVID-19 outbreak, the report studies the dynamics of the market, changing competition landscape, and the flow of the global supply and consumption.

The report exclusively deals with key areas such as market size, scope, and growth opportunities of the Direct-to-Consumer Genetic Testing (DTC-GT) market by analyzing the market trend and data available for the period from 2020-2026. Keeping 2019 as the base year for the research study, the report explains the key drivers as well as restraining factors, which are likely to have major impact on the development and expansion of the market during the forecast period.

The report, published by Dataintelo, is the most reliable information as the study relies on a concrete research methodology focusing on both primary as well as secondary sources. The report is prepared by relying on primary source including interviews of the company executives & representatives and accessing official documents, websites, and press release of the private and public companies.

The report, prepared by Dataintelo, is widely known for its accuracy and factual figures as it consists of a concise graphical representations, tables, and figures which displays a clear picture of the developments of the products and its market performance over the last few years. It uses statistical surveying for SWOT analysis, PESTLE analysis, predictive analysis, and real-time analytics.

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Furthermore, the scope of the growth potential, revenue growth, product range, and pricing factors related to the Direct-to-Consumer Genetic Testing (DTC-GT) market are thoroughly assessed in the report in a view to entail a broader picture of the market. The report also covers the recent agreements including merger & acquisition, partnership or joint venture and latest developments of the manufacturers to sustain in the global competition of the Direct-to-Consumer Genetic Testing (DTC-GT) market.

Competition Landscape:

The report covers global aspect of the market, covering

Global Direct-to-Consumer Genetic Testing (DTC-GT) market by Types:

Over-the-Counter (OTC) ChannelOnline Channel

Global Direct-to-Consumer Genetic Testing (DTC-GT) market by Applications:

Ancestry-based Genetic TestsHealth and Wellness-based Genetic TestsEntertainment-based Genetic Tests

Key Players for Global Direct-to-Consumer Genetic Testing (DTC-GT) market:

24GeneticsAncestry.com LLCDante LabsEasyDNAGenebaseAtlas BiomedFamily Tree DNAMyHeritageMapmygenome

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Complete Growth Overview On Direct-to-Consumer Genetic Testing (DTC-GT) Market In 2020-2027 Including Top Key Players, Trends And Emerging Growth...

Recommendation and review posted by Bethany Smith

The study on Genetic Testing for Consumers (DTC) market provides thorough insights pertaining to major growth drivers, challenges, and opportunities that will influence the industry expansion in the forthcoming years.

According to the research document, the industry is expected to register XX% CAGR over the forecast period (2020-2025), subsequently accruing significant gains by the end of analysis timeframe.

The market is in a disarray due to the lockdowns imposed for limiting the spread of COVID-19 outbreak. In addition to the sudden slump of revenue, some businesses are expected to tackle a plethora of challenges post the pandemic.

Request Sample Copy of this Report @ https://www.express-journal.com/request-sample/225088

Most of the businesses across various sectors have renewed their budgets to focus on profit gains in upcoming years. Our comprehensive analysis of the business sphere can help stakeholders in making sound decisions to compensate for market uncertainties and support them in building strong contingency plans.

Further, the report provides a granular assessment of the several industry segmentations to convey a deeper understanding of the areas with strong profit potential.

Key inclusions of the Genetic Testing for Consumers (DTC) market report:

Genetic Testing for Consumers (DTC) Market segments covered in the report:

Regional segmentation:

Middle East and Africa (Saudi Arabia, UAE, Egypt, Nigeria and South Africa)

Product types: Carrier Testing, Predictive Testing, Ancestry & Relationship Testing, Nutrigenomics Testing and Others

Applications spectrum: Online Platforms and Over-the-Counter

Competitive outlook:

Our Market Research Solution Provides You Answer to Below Mentioned Question:

Which are the key factors driving the growth of the industry?

What are the emerging market trends and opportunities for this sector?

What is the future growth trend of this industry?

What is the size of the global and regional sector in terms of volume, size, and revenue?

Which is the most promising region in the global market?

What is the forecasted revenue and volume growth rates of the industry in the coming years?

Which region holds the highest share and what are the market shares of other key regions?

How will each segment and region grow over the years until 2025?

Table of Contents:

Report Overview: It includes major players of the global Genetic Testing for Consumers (DTC) market covered in the research study, research scope, and Market segments by type, market segments by application, years considered for the research study, and objectives of the report.

Market Share by Manufacturers: Here, the report provides details about revenue by manufacturers, production and capacity by manufacturers, price by manufacturers, expansion plans, mergers and acquisitions, and products, market entry dates, distribution, and market areas of key manufacturers.

Production by Region: Here, the production value growth rate, production growth rate, import and export, and key players of each regional market are provided.

Consumption by Region: This section provides information on the consumption in each regional market studied in the report. The consumption is discussed on the basis of country, application, and product type.

Market Size by Type: This section concentrates on product type segments where production value market share, price, and production market share by product type are discussed.

Market Size by Application: Besides an overview of the global Genetic Testing for Consumers (DTC) market by application, it gives a study on the consumption in the global Genetic Testing for Consumers (DTC) market by application

Company Profiles: Almost all leading players of the global Genetic Testing for Consumers (DTC) market are profiled in this section. The analysts have provided information about their recent developments in the global Genetic Testing for Consumers (DTC) market, products, revenue, production, business, and company.

Key Findings: This section gives a quick look at important findings of the research study.

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Read more:
Genetic Testing for Consumers (DTC) Market Structure, Industry Inspection, and Forecast 2025 - Express Journal

Recommendation and review posted by Bethany Smith

The research report on the Genetic Testing Market provides professional in-depth analysis available on the market status and latest trends, including growth, opportunities, competitive landscape, technological advancement, product offerings of key players, and the dynamic structure of the market. Besides this, it contains a detailed analysis of the Genetic Testing Market scope, potential, financial impacts, and also envelops the precise evaluation of market share, product & sales volume, and revenue.

Genetic Testing Market was valued at USD XX billion in 2019 and is projected to reach USD XX billion by 2027, growing at a CAGR of XX% from 2020 to 2027.

The report is updated with the latest changes in the market dynamics owing to the recent COVID-19 pandemic. The report covers an extensive impact analysis of the COVID-19 crisis on the overall market. The report also provides an insight into the current and future market trends with regards to the COVID-19 pandemic.

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Top Companies in the Global Genetic Testing Market Research Report:

The following players are covered in this report:

Abbott

bioMrieux

Bio-Rad Laboratories

F. Hoffmann-La Roche

Myriad Genetics

QIAGEN

Quest Diagnostics

Genetic Testing

The Genetic Testing Market Report provides future growth drivers and the competitive landscape. This will be beneficial for buyers of the market report to gain a clear view of the important growth and subsequent market strategy. The granular information in the market will help monitor future profitability and make important decisions for growth.

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The Genetic Testing Market report provides in-depth statistics and analysis available on the market status of the Genetic Testing key players and is a valuable method of obtaining guidance and direction for companies and business enterprise insider considering the Genetic Testing market. It contains the analysis of drivers, challenges, and restraints impacting the industry.

Breakdown Data by Type

Analyzers

Consumables

Genetic Testing Breakdown Data by Application

Predictive and Diagnostic Testing

Prenatal, Newborn, and Pre-Implantation Testing

Pharmacogenomic Testing

Forensic, Relationship, and Ancestry Testing

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Fundamentals of Table of Content:

1 Report Overview

1.1 Study Scope

1.2 Key Market Segments

1.3 Players Covered

1.4 Market Analysis by Type

1.5 Market by Application

1.6 Study Objectives

1.7 Years Considered

2 Global Growth Trends

2.1 Genetic Testing Market Size

2.2 Genetic Testing Growth Trends by Regions

2.3 Industry Trends

3 Market Share by Key Players

3.1 Genetic Testing Market Size by Manufacturers

3.2 Genetic Testing Key Players and Area Served

3.3 Key Players Genetic Testing Product/Solution/Service

3.4 Date of Enter into Genetic Testing Market

3.5 Mergers & Acquisitions, Expansion Plans

4 Breakdown Data by Product

4.1 Global Genetic Testing Sales by Product

4.2 Global Genetic Testing Revenue by Product

4.3 Genetic Testing Price by Product

5 Breakdown Data by End User

5.1 Overview

5.2 Global Genetic Testing Breakdown Data by End User

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Genetic Testing Market: Strategic Analysis to Understand the Competitive Outlook of the Industry, 2024 - TechnoWeekly

Recommendation and review posted by Bethany Smith

Being diagnosed of having cancer is in and of itself ominous, but when it comes to breast cancer, specifically for women it is not just life and death, psychological factors like self-identity and esteem are just as important.

In the U.S., more than 250,000 new cases of breast cancer are expected in 2020, according to the National Cancer Institute. Oncoplastic surgeons at Baystate Health are working closely to address the impact cancer will have on womens physical health and their psychological well being.

Baystate Breast Surgical Oncology and Breast Specialist Danielle Lipoff knew she wanted to dedicate her life to oncology at just 14 years old after seeing a surgical procedure on TV.

Oncology is the study of cancer. An oncologist is a doctor who treats cancer and provides medical care for a person diagnosed with cancer. The field of oncology has three major areas: medical, surgical and radiation. Lipoff chose the surgical aspect.

I was like, yeah, thats going to do. I want to go to med school and thats what I want to do, said Lipoff. I spent a long time trying to talk myself out of surgery, trying to talk myself out of breast care just to make sure.

Lipoff was part of a multidisciplinary tumor board at Massachusetts General Hospital shortly after she finished grad school, that looked at the Suppression of Ovarian Function (SOFT) and Tamoxifen and Exemestane Trial (TEXT).

SOFT was designed to determine the value of adding ovarian suppression to tamoxifen and to determine the role of the aromatase inhibitor exemestane plus ovarian suppression.

TEXT was designed to determine the value of exemestane as compared with tamoxifen in women treated with ovarian suppression.

The two clinical trials dictated practices on cancer care that are now used, Lipoff told MassLive.

Performed at Baystate Medical Center in Springfield, oncoplastic surgery is a combination of cancer surgery and plastic surgery that removes the part of the breast that has cancer in an attempt to preserve the physical appearance of a womans natural shape pre-operation. It is done in one surgical procedure.

Using advanced radiologic imaging, surgeons are able to locate cancerous tumors and make more precise incisions and to remove the cancer in its entirety with minimal disturbance to the surrounding tissue.

In the U.S., breast cancer is the most common cancer for both men and women. There are 279,100 new cases expected in the U.S. in 2020, according to the National Cancer Institute. The next most common cancers are lung cancer and prostate cancer.

Survival from breast cancer has significantly improved and the potential late effects of treatment and the impact on the quality of life have become increasingly important.

Oncoplastic surgery began in the early to mid-1980s, mostly by European and American surgeons and is considered a major advancement for women with breast cancer. The process involves planning the lumpectomy and immediate reconstruction together. It may involve operating on both breasts, including one that may not have cancer, to make the two breasts symmetrical.

Baystate Medical Center Surgical Oncology and Breast Specialist Danielle Lipoff works in partnership with Plastic and Reconstructive Surgeon William Collins to perform oncoplastic surgery on women that have suffered from breast cancer. (Douglas Hook / MassLive)

Lumpectomy is a surgical operation in which a lump is removed from the breast, typically when cancer is present but has not spread.

Five percent of breast cancers are genetically related. They are related to genetic mutation. One of the biggest risk factors within breast cancer is family history, said Lipoff. So, thats definitely part of the conversation we have when patients come in. How many family members have been diagnosed with breast cancer and ovarian cancer with both connected to genetic mutations.

The genes most commonly affected in hereditary breast and ovarian cancer are the breast cancer 1 and breast cancer 2 genes. About 3% of breast cancers, about 7,500 women per year, and 10% of ovarian cancers, roughly 2,000 women per year, result from inherited mutations in the BRCA1 and BRCA2 genes, according to the Centers for Disease Control and Prevention.

Lipoff told MassLive that the genetic tests that are done now are completely different from five years ago. Doctors across the world are learning about new mutations connected to breast cancers almost every day.

The right surgery will depend on many factors: the size and location of the cancer, how advanced the cancer is, whether the cancer has spread and whether genetic testing indicates BRCA1 or BRCA2 or other genetic mutations.

Hollywood film star Angelina Jolie announced six years ago that she had undergone a double mastectomy because she carries a genetic mutation that greatly increases her risk of potentially fatal breast cancer.

Jolie said she began the process to have both of her breasts removed in early 2013 because she lost her mother, actress Marcheline Bertrand, to ovarian cancer when her mother was just 56.

At Baystate Medical Center, Surgical Oncology and Breast Specialist Danielle Lipoff and Plastic and Reconstructive Surgeon William Collins work closely together to discuss breast-conserving surgery. (Todd Lajoie)

Theres no other diagnosis like breast cancer that can affect a womans sense of self, said Lipoff. Theres that conversation that all starts with the patients in regard to how they feel about the size and shape of their breasts. How does it connect to their sense of self their sexuality and their sensuality.

Not every mutation results in a patient having to go through the harrowing surgical procedure of a mastectomy. Oncoplastic surgery involves saving more of a womans breast tissue, with the aim of a better cosmetic outcome. After the surgeon completely removes cancerous tissue, the plastic surgeon then reshapes or reconstructs the remaining breast tissue to achieve a more natural look without using implants.

This kind of breast surgery allows women to keep much of their breasts. The type and extent of surgery are based on the size of the breast, the size of the mass and the type of cancer.

If they do opt to go to implant reconstruction, then it becomes they see themselves out of the corner of their eye and they dont remember they have the breast cancer anymore because they look like themselves, Lipoff said.

She added that ultimately the surgery cant recreate a breast with the same sensation and feel it had before, but the surgery does attempt to give the best sense of self that is available.

Any cancer diagnosis is going to be a significant hit on the patients psyche one way or the other, said Lipoff. Everybody deals with it differently. But we do know quality of life is improved with breast conservation. [Womens] sense of self, sexuality [and] sensuality is improved with breast conservation. Most of our patients retain all sensitivity within the nipple and skin with breast conservation, so to be able to provide that is significant.

Breast surgery scars have shown to significantly impact a womans psychological and emotional recovery and quality of life after surgery because scars can have a large impact on a womans self-confidence, intimacy, and body image. All Baystate Health breast surgeons are hidden scar trained and certified, according to Lipoff.

When women come to the hospital, they will undergo a series of meetings with not only doctors to better understand their condition and what can be done to address the concern itself, but also social.

Baystate Medical Center Plastic Surgeon William Collins works in partnership with Breast Surgeon Danielle Lipoff to perform oncoplastic surgery on women that have suffered from breast cancer. (Douglas Hook / MassLive)

When conducting our visit and we have our meeting, I am trying to get a sense of what their goals are and then we work through the reconstructive process in a way that helps them approach [and] achieve those goals in terms of size symmetry and shape, said Baystate Plastic and Reconstructive Surgeon William Collins.

Collins studied for five years in general surgery and then went on to plastic surgery. He told MassLive, the combination of anatomy, oncology and long-term relationships with patients attracted Collins to the role.

The Baystate doctors emphasized the phycological impact the diagnosis can have for women when they come to the hospital and that this surgery can be as effective at fighting cancer and as an added plus, gives women more options.

We know that, if the full plan is put together, breast conservation and mastectomys overall survival for breast cancer is exactly the same, Lipoff said, emphasizing that she always looks to preserve the breast first and foremost. Then it becomes a patient choice as to whether they want it to be breast conservation versus mastectomy.

Lipoff explained that there are different levels of reconstruction. There are smaller on the oncoplastic techniques where she can rearrange breast tissue to put together the deficit from other tissue removed to leave a good symmetry.

I cant always do that, Lipoff said. Sometimes its a larger cancer and thats when I call on my colleagues and plastic surgical department to assist.

The plastic surgery essentially combines the emphasis on reconstruction with the secondary goal of preserving the patients appearance and optimizing breast shape symmetry, Collins added. The ultimate goal is to remove the cancer.

At Baystate Medical Center, Surgical Oncology and Breast Specialist Danielle Lipoff and Plastic and Reconstructive Surgeon William Collins work closely together to discuss breast-conserving surgery. (Todd Lajoie)

It is of the utmost importance for Lipoff and Collins' departments to work harmoniously to coordinate treatment for patients' specific cases and needs. Collins added that he and Lipoff are in constant communication.

No two surgeries are the same. Each patient is unique because diagnosis differs from the next.

Every reconstructive and oncoplastic operation is tailored to each patient, said Collins. Thats what makes it exciting. Every day is a new challenge. Its very gratifying to help these people during this time.

For Collins and Lipoff, it isnt just about the glamour of being a surgeon. Both Lipoff and Collins follow their patients' post-surgery to monitor their progress. Collins told MassLive that he develops really meaningful relationships that are incredibly gratifying and fulfilling.

Even the most challenging days makes you excited to come to work, Collins said.

Baystate Health has produced a free virtual Breast Health Series during Breast Cancer Awareness Month, which viewers can participate in from the comforts of their own homes that started on Oct. 14.

Collins and Lipoff will be speaking on their work at the hospital on Oct. 21 in the lecture called The Restorative Breast Collaboration. The link is available at the Baystate Health website along with the virtual Breast Health Series.

Got a news tip or want to contact MassLive about this story? Email newstips@masslive.com or message us on Facebook orTwitter. You can also call our news tips line at 413-776-1364.

Read more:
Beyond just surviving: Cancer and plastic surgery team at Baystate Medical Center healing both body and self- - MassLive.com

Recommendation and review posted by Bethany Smith

Global DTC Genetic Testing Market Report describes the basic elements of the industry and market stats, the recent advances in technology, business plans, policies, possibilities for development and risks to the sector are being described. The two key segments of the report, namely market revenue in (USD Million) and market size (k MT) are presented in this report. The Scope of DTC Genetic Testing industry, market concentration and presence across various region are described in detail.

The prominent DTC Genetic Testing industry players are covered in the next section, their business profiles, product information, and market size. Also, the SWOT analysis of these players, business plans & strategies are covered. It covers the product definition, classification, type and price structures.

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Major players covered in this report:

Color GenomicsLaboratory Corporation of AmericaMapMyGenomeGene by Gene23andMeAfrican AncestryHelixWeGeneMyriad GeneticsPathway GenomicsQuest DiagnosticsThermo Fisher

Market Segmentation:

By Type:

Disease Risk and HealthAncestry or GenealogyKinshipLifestyle

By Application:

On-line SalesDoctors Office

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In this report DTC Genetic Testing manufacturing value and growth rate from 2015-2019 will be provided at regional level. The nitty gritty evaluation of segments and sub-segments of emerging industries are clerified. It covers DTC Genetic Testing industry plans & policies, financial status, cost structures and analyzes of the value chain. The DTC Genetic Testing competitive perspective of the countryside, the production base, the evaluation of the production method and the upstream raw materials are assessed.

The gross margin, consumption pattern, growth rate of DTC Genetic Testing is studied precisely. The top industry players are covered on a regional level and country level with the analysis of their revenue share from 2015-2019. Furthermore, forecast DTC Genetic Testing industry status is determined by analysis of expected market share, volume, value and development rate. The forecast DTC Genetic Testing industry view is presented from 2020-2026.

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Table of Contents:

Global DTC Genetic Testing Market Size, Status and Forecast 2026

1 DTC Genetic Testing Industry Overview

2 DTC Genetic Testing Competition Analysis by Players

3 Company (Top Players) Profiles

4 Global DTC Genetic Testing Market Size by Type and Application (2015-2019)

5 United States DTC Genetic Testing Development Status and Outlook

6 EU DTC Genetic Testing Development Status and Outlook

7 Japan DTC Genetic Testing Development Status and Outlook

8 DTC Genetic Testing Manufacturing Cost Analysis

9 India DTC Genetic Testing Development Status and Outlook

10 Southeast Asia DTC Genetic Testing Development Status and Outlook

11 Market Forecast by Regions, Type and Application (2020-2026)

12 DTC Genetic Testing Market Dynamics

12.1 DTC Genetic Testing Industry News

12.2 DTC Genetic Testing Industry Development Challenges

12.3 DTC Genetic Testing Industry Development Opportunities (2020-2026)

13 Market Effect Factors Analysis

14 Global DTC Genetic Testing Market Forecast (2020-2026)

15 Research Finding/Conclusion

16 Appendix

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Global DTC Genetic Testing Market By New Business Developments, Innovations, And Key Companies, Forecast To 2026 Globalmarketers Research - PRnews...

Recommendation and review posted by Bethany Smith