Archive for the ‘Male Genetics’ Category

TEL AVIV While the SARS-CoV-2 coronavirus grabbed center stage over this past year, biotech startup eggXYt turned its attention to avian influenza the deadly bird flu thats led to the slaughter of millions of infected poultry and also threatens human health.

A new licensing agreement will enable eggXYt to develop genetic resistance in chickens against avian influenza virus using a technology known as gene editing induced gene silencing from U.K.-based Tropic Biosciences.

This is the latest innovation from eggXYt, which has previously been recognized for its idea to determine the sex of chicks before incubation.

Every year, the egg industry destroys some 4 billion male chicks because they can lay eggs and arent the right breed for meat. Using eggXYts automated system would spare these chicks, make 4 billion more eggs available to consumers, and save labor and money for the industry.

Our primary goal is to improve animal welfare and efficiency within the poultry industry, says Yehuda Elram, CEO and co-founder of eggXYt, which is opening a state-of-the-art R&D facility in Jerusalem and raising a Series A round of funding.

Through the gene-silencing technology, eggXYt will expand its poultry portfolio into the field of health.

Following the Covid-19 outbreak, we are all very mindful of the threat of zoonotic diseases to human health and so we are especially motivated to embark on a project that may help to prevent further pandemics, Elram said.

Lifetime resistance

Elram and neuroscientist Daniel Offen (also founder of Brainstorm Cell Therapeutics) established eggXYt in 2016. Their strategy was to build a platform, talent pool and know-how to create a variety of genetics-based solutions for the poultry and livestock industry.

Avian flu was chosen as our next target because it is the number one pain point for the industry from a health point of view, says Elram.

The current main approach is an avian influenza vaccination. However, these expensive vaccines must be individually administered and do not cover all flu strains. They can only reduce, not eradicate, outbreaks.

Our new approach will produce chickens that have intrinsic, wide-range, genetic resistance throughout their whole lifetime and on to their offspring, Elram says.

Tropics bioinformatics platform for gene silencing originally developed to protect banana plants from a fungal disease uses a gene-editing technique that doesnt require adding or deleting genes. This minimal intervention is widely considered non-GMO and safe.

Elram says other genome-editing technologies to develop influenza-resistant chickens aim to change the sequence of genes that code for proteins, and may present greater risks of harmful effects.

The GEiGS platform harnesses naturally occurring defense mechanisms to directly attack disease agents, solving the heavy burden of target gene discovery for gene-editing applications, said Eyal Maori, chief science officer and CEO of Tropic Biosciences.

This is driving extensive interest in the technology from outside parties and we are delighted to partner with eggXYt and other innovative companies from the broader agricultural and life-sciences industries.

MIT Solverecently chose eggXYt as a Solver team for its Sustainable Food Systems Challenge from a pool of 2,600 applicants from 135 countries. The year-long program provides funding and access to VCs and MIT experts.

This could speed eggXYts path to commercialization for all its products. Elram believes eggXYts product will be the first to market and may provide resistance to other pathogens as well.

We estimate it will take 40 months or so to create gene-edited, stable founder flocks of chickens, he says.

Counting chickens before they hatch

At the same time, eggXYt is advancing toward commercializing its flagship product aimed to end the culling of male chicks, usually done by grinding them alive.Consumers care more and more about how food gets onto their plate and what happens between farm and fork, says Elram. This trend is only growing.

He says the buzz started in 2014 when animal welfare activists pushed Unilever producer of Hellmanns mayonnaise, one of the largest egg consumers worldwide to issue a statement that chick culling must end.

Ever since, governments have been enacting legislation to ban chick culling, each country with a different timeline, says Elram, the grandson of Israeli egg farmers.

We are taking the best approach, as we see it. Some of the competition is working on solutions that have to start the incubation process and stop it at some point.

In contrast, eggXYts technology detects the gender of newly laid eggs by picking up a signal from a biomarker right through the shell made possible by a gene-editing technique called CRISPR that recently won a Nobel Prize in Chemistry for its developers, Jennifer Doudna and Emmanuelle Charpentier.

To complete the process of designing the device that will detect the signal from each egg of the gene-edited chickens, eggXYt has partnered with strategic investor TBG, whose operating companies make egg-grading and hatchery equipment.

We believe the world is becoming more receptive to the use of high-end technology to solve the worlds most pressing problems, says Elram. That is part of what we are doing with MITbringing together different pieces of the puzzle in the innovation ecosystem to solve big problems.

Biotech startup could end avian flu and male chick killing appeared first on ISRAEL21c.

(Edited by Matthew B. Hall and David Martosko)

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Adieu, Bird Flu: Biotech Startup Could End That Virus And Male Chick Kills Free Press of Jacksonville - Jacksonville Free Press

Matthew Nussbaum| Wayne County Extension

Breed differentiation within a species is quite common. A German Shephard is certainly not equivalent to a Miniature Schnauzer in terms of purpose. There are likewise many differences between our modern beef and dairy breeds.

Yes, some dual-purpose breeds are still preferred on small farms or homesteads, but overall, maximum efficiency is reached with dairy cows that convert feed into milk and beef cattle that convert feed into muscle (meat).

So, why are we discussing the idea of merging beef and dairy genetics? It comes down to market demand and profitability. All dairy cattle will one day become beef cattle. For dairy steers that day comes sooner than for milking cows that are culled after several years of producing milk, but beef is the final destination.

With our bulk meat processing plants and standardized market, consistency is key for smooth operations. Therefore, the beef industry wants livestock that meet a set of standards tht include age, weight, marbling, ribeye shape and size,and dressing percentages at time of harvest.

Those standards are all based on our modern beef cattle profile. Thus, dairy farmers typically experience discounted payments when they sell livestock into the beef market for failure to meet one or several of those standards. Most farmers will still want their entire milking herd to be strictly dairy, as that is often more efficient.

To accomplish this, farmers would select their top milking cows and breed them exclusively with dairy sexed semen. Cows with poor genetics and at the bottom of the production lineup could all be bred to beef sires.

Additionally, all or most of the replacement heifers could be bred to beef as there is some evidence beef breeds have better calving ease than many of our dairy cattle and those replacement heifers are not yet proven producers.

The result is the farms top cows produce nearly all heifer calves for replacements, which increases the farms overall production and genetic improvement, while the bottom cows produce a crossbreed offspring that may be either a heifer or a bull calf.

Unfortunately, beef sexed semen for male dominant offspring is not readily available. While the ideal plan would also include all of our bottom cows producing male crossbreeds that could be raised for beef, selling crossbreeds of either gender is usually more profitable than selling their dairy counterparts for a non-dairy purpose.

This is especially true for dairy steers as they have little purpose outside of the beef market but do not fit the industrys mold for the ideal beef animal.

Note, some aspects of dairy genetics are favorable in the beef market. Dairy breeds naturally have better marbling scores than many of the beef breeds and also have a smaller percentage of trim fat. But the road splits from here when thinking about Holstein versus Jersey dairy cows.

Holstein frames usually are bigger than what the beef market wants. So, selecting a proven sire with a smaller frame size is ideal, and will likely yield easier calving, too.

Jersey cattle have the opposite problem. Look for beef genetics with smaller birth weights, but an increased frame size. Both breeds have great needs for genetics that promote better feed conversion to pounds of gain as we no longer need an animal that is efficient at converting feed into milk production.

Is any beef breed or beef semen good enough to get the job done? That depends on what you are trying to accomplish. If the goal is to be highly profitable by introducing beef genetics, I would answer, no.

Consider paying a little extra for the beef genetics that will best compliment your dairy herd. Essentially, the goal of crossbreeding in this scenario is to make a dairy-beef cross that looks and performs like a beef animal. While it may seem silly, the beef market prefers solid-colored animals.

Breeding Holsteins to Angus or other solid black beef is preferred and similarly, breeding Jerseys to Limousin or Charolais often produces solid cream or fawn-colored cattle. In the end, these cattle should be round and smooth, not angular, about 1200 pounds, and ideally sold before 30 months old if not 2 yrs.

One final thought: if you are trying to produce a marketable beef animal, you must feed it like a beef animal. They are not dairy heifer replacements or dry cows and will perform best on a ration designed for their purpose. This often includes a higher ration of grain with need for a separate pen/facility.

Matthew Nussbaum is an OSU Extension Agriculture and Natural Resources Program Assistant and may be reached at 330-264-8722.

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Adding value to the herd with beef and dairy crossbreeding - Wooster Daily Record

According to Dr Ritu S Santwani, Director at Pune Test Tube Baby Centre & Shyam Well Women Clinic, in several cases, enlargement of veins within the scrotum leading to sperm count deterioration is often found to be the cause. Another very important reason is stress.

Hormonal disbalance is also one of the causes of infertility, says Dr Santwani.

She says stress and pandemic have further contributed to increasing cases on male infertility.

"Many people are going to the sauna bath in the gym these days, in which the testicles are exposed to a higher temperature for a longer time. Studies have found that higher temperature also leads to a reduction in the sperm count, she adds.

According to Dr Sowjanya Aggarwal, Principal Consultant, Infertility & IVF, Obstetrics And Gynaecology, Max Hospital, Vaishali, It could be physical causes, infections, hormones-related problems. There are no common causes as such. Basically, what we can say is that there are 3 main causes genetics, prior surgery because of cancer or any other major surgery, and medication that can affect semen analysis. Alcohol, drugs, and smoking can also affect this but whether there is a particular limit for that cannot be said. Stress and being overweight can also be the be a cause.

Male infertility can be caused by excess heat, drug use, excessive alcohol consumption, exposure to toxins, stress, obesity, dietary deficiencies, prostatitis infection, varicocele, and diseases/surgery of the male genital tract, says Dr Rajinder Yadav, Director and HOD, Urology, Fortis Hospital, Shalimar Bagh

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Everything About Male Infertility: Causes, Treatment & Diagnosis - The Quint

Patrick and Diamond Platnumz [Photo: Courtesy]

Just how can people who dont share any biological lineage, ethnicity or nationality look-alike?Could be because the bible tells us on good authority that we all came from Adam and Eve and even your wife could thus be your sibling? But does everyone have a doppelganger? Theres a fairly decent chance of it, actually, thanks to the limited number of genes that influence facial features.

Michael Sheehan, an assistant professor of neurobiology and behaviour at Cornell University, USA, told the journal Nature that there is only so much genetic diversity to go around, said the scholar who studies appearance variations and genetics in species such as paper wasps and house mice. If you shuffle that deck of cards so many times, at some point, you get the same hand dealt with you twice.

Family members might look alike on average than non-related individuals due to inheritable traits but what explains the resemblance between strangers?

Dr Arthur Beaudet, a professor of molecular and human genetics at Baylor College of Medicine in Houston, also told Nature that theres a huge number of genes that contribute to things like facial structure and, of course, hair, eye and skin colour, which are all highly variable and that more genes are known to be linked to looks than to other areas of human anatomy. Human faces are more variable than we would expect them to be based on how variable other body parts are, Sheehan said.

Here are look-alikes who have recently shocked us.

I wish I could meet John Magufuli- Frank Otieno

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Frank Otieno, a former secondary teacher is an editor at KTN. He resemblances to Tanzanian President John Pombe Magufuli. The no-nonsense president came to power in 2015. Just like Magufuli Frank also wears glasses, is of dark complexion but the most notable feature which makes the two gentlemen look alike are the nose and lips.

Read Also: How entertainers gifted Magufuli with a new term

Otieno posted a photo online saying he was going to Tanzania for a pep talk with Magufuli as he was tired of the endless questions that were lingering in his mind. The post excited Kenyans on social media and they urged him take the matter seriously.President Magufuli and Frank Otieno [Photo: Courtesy]

Frank told The Nairobian when I started my TV show Dau ya Elimu my followers started saying I look like John Pombe Magufuli. My wife also had similar sentiments. There was a time I was waiting for our crew to come and pick me at Kitengela for a shoot clad in a suit. A man approached and asked me if I had any relationship with Magufuli. I was astonished. For a long time I thought people were looking me in the streets because they see me on TV but I came to learn that it was because I bear a resemblance to Magufuli.

Otieno hails from Siaya County but once worked in Tanzania as a teacher from 1999 to 2001. I remember one of by biology students called Stella Matiko telling me that I looked like Magufuli but I think its just nature and Im excited because my lookalike is a president and a man of the people but Im certain that we have no blood relationship. I wish I could meet him.

I am a carbon copy of First Lady Margaret Kenyatta- Grace Mkabili

Kenyas first lady, Margaret Kenyatta, has an immediately recognizable look. Her short hair alone makes her stand out as well as her glasses and rangi ya pesa complexion. These features have become so synonymous with her that one woman found herself courting fame for sharing the First Ladys look.

Like Margaret Kenyatta, Grace Elizabeth Mkabili is short and light-skinned, and keeps her hair short. The social activist from Voi also wears glasses. Her resemblance to the Margaret Kenyatta is so striking that she has earned the nickname First Lady herself, and is often asked whether theyre blood relations.First Lady Margaret Kenyatta and Grace Mkabili [Photo: Courtesy]

Most people are not convinced when I tell them I am not First Ladys sister, said the married mother of three. After I decided to shave my hair and dye it, everyone said I was a carbon copy of the First Lady. The saloonist handed me the mirror and I was shocked to see that I resembled the First Lady.While she met the First Lady once on a Beyond Zero campaign function in Mombasa, Elizabeth maintains she would love to take a photo with Margaret Kenyatta.

Migori preacher is approached for Presidential advise

Pastor Daudi Ojuango, who is interestingly also called Mwai, is a preacher from Migori. From his height and complexion to the shiny bald head, he bears a striking resemblance to former President Mwai Kibaki, as Migori residents were quick to point out. The two look so alike his congregation often confuse him for the President, even approaching him for advice. It has happened so much that the man of God is now used to it.

Read Also: Why Mwai Kibaki prefers living in Muthaiga to Sh400 million Nyeri home

Another man who shares the features of the former president is 63-year-old Ronald Edward Frederick Kimera Muwenda Mutebi II, the reigning Kabaka of the Kingdom of Buganda, a constitutional kingdom in modern-day Uganda. He shot into the public consciousness after photos of him surfaced online, and eagle-eyed Kenyans were quick to comment that it was like President Kibaki had stepped back in time. Seeing as both men rose to positions of power, there is clearly something special about those particular genes.

Kalonzo Musyoka wanted to meet his mirror image

When you think of former Vice President and Wiper leader Kalonzo Musyoka, the thing that immediately springs to mind is a full head of hair and a 90s era moustache.Back in 2017, Jesse Kinyanjui found himself in the public eye after photos emerged of him, sporting the same head of hair and moustache that made Kalonzo so recognizable.The young resident of Ruiru in Kiambu County, was soon trending, as Kenyans on Twitter created the hashtag #Kalonzobro and got creative with the jokes.Kalonzo and Jesse [Photo: Courtesy]

Jesse revealed he had been grooming the moustache since his high school days, and that the resemblance had not gone unnoticed by his schoolmates and neighbours. But the media attention was too much for him to handle, and he was soon craving his old life of anonymity. Kalonzo later commented on the resemblance, saying it showed Kenyans are one, and that he would like to meet Kinyanjui.

Women throw themselves Governor Hassan Joho wa Meru

Few male politicians have been able to capture womens attention as wildly as Mombasa Governor Hassan Joho. His Instagram is a shrine to his unique personal style, and he routinely leaves women drooling with his photos and expensive outfits. As the saying goes, women want to be with him and men want to be him. Well, for Lynn Ngugi, a local businessman in Meru, he got the next best thing.

Read Also: We did not have money so I dropped out of school, Governor JohoNgugi and Joho [Photo: Courtesy]

Ngugi looks so much like Joho he gets a fraction of the female attention the Governor does. He has the signature beard and the smooth-shaven head. He tries to dress like Joho too, though of course, he doesnt have the Governors flamboyance. But it is enough. According to Ngugi, women throw themselves at him because of the resemblance, and he is very proud of the association.

Diamond Platinumz vs the Bodaboda rider

Our brother-in-law Diamond has established himself as the biggest star in East Africa. He created a unique style of music that has propelled him to the top of the making him a household name with a recognizable face and chiselled physique.In 2018, we were treated to the case of a young boda boda rider from Mombasa who looks a lot like the Kanyaga hitmaker. The man, identified online only as Patrick, posted photos of himself on his bike, and Kenyans were quick to note the resemblance, down to his toned biceps.Patrick and Diamond Platnumz [Photo: Courtesy]

Grandmother met Obama from Indonesia and fainted

Ilham Anas, an Indonesian man, shook the world with his resemblance to former US president Barrack Obama. He is often mistaken for the real Obama which has seen him travel around the world. If I am wearing a suit, many people mistake me for the real Obama, he told wowzeto.com. When I was in America, a grandmother got in the elevator with me and was so shocked to see Barrack Obama. She fainted.While Obama visited Indonesia, the father of two who works as a photographer for a teen magazine was in Los Angeles pretending to be Obama.

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Mirror on the wall? Celebrity look-alikes - The Standard

The newresearchusesdatafroma 2018study,whichis stillthe largestanalysisof ancient DNAfrom Britain ever conducted,thatidentifieda >90% replacement of the genetic ancestry of people living in Britain between 2500-2100 BC. Thiscoincidedwith the introduction of Beakermaterial culture and burialpractices,andwas interpreted to indicatethat there were substantial movements of people into Britain from continental Europe during this period.

At the time it was published,popular coverage of the original studyspeculatedthat this wasa rapidevent, potentially involving invasionby male warriors, butthe new study has foundfromdetailed analysis that it was more likely a long-term process, taking place over maybe 10-16 generations,withboth men and women moving for a variety of reasons thatmight haveincluded exchange, pilgrimage, and the pasturing of animals.Incoming populationsand their descendants tended to bury their dead, but local groups probably continued to cremate their dead, which destroys the DNA, or treatthemin ways which leavenorecord.Thearchaeologically invisiblelocalpopulationare only seenwhen they have children with groups who buried their dead. Thismay be partly responsible for why this change in ancestryappearedso rapidat first.

Dr Tom Booth, archaeologist at The Francis Crick Institute has said: Initially it looks like groups of locals and incomers and their descendants lived in parallel with one anotherto some extent occupying the same landscapes, slowly integrating and only having children with each other infrequently.After around 300 yearsthey start having children together more liberally itsat this point, the older population then have a much lower genetic legacyoverall.Why they have such a small overall genetic legacy is still a mystery. It could be thattherejust werent so many people living in Britain at the time these Beaker groups move in from continental Europe.

ProfIanBarnes, Researcher and Division Lead at the Natural History Museum has said:Anissue we face is that wealsodont know how many people there were from either group,althoughpopulation size may be declining inthe localpopulation of Britain at the end of Neolithic. It may be that the reason whywe seem to pick up so many genetic relatives in the Bronze Ageis becauseonly small groups of people were moving into Britain.

The new study also highlights how genetic ties were referenced variably in death among burials in the Stonehenge landscape.A man and his juvenile son were buried next to one another in a cemetery on Amesbury Down.By contrast, aman, hisnephewand his nephews daughter were buried across three different cemeteries separated by severalkilometres.A young man was buried on Boscombe Down with the skull of his paternal cousin or half-brother at his feet.

Prof. JoannaBrck, archaeologist at University College Dublin, said: Existing interpretations of the genetic evidence paint a picture of a patriarchal society, in which male immigrants married localwomen. Our research shows that although links with paternal relatives were important, kinship organization was variable, and other relationships, including with maternal kin, were also significant.Sometimes, people who were not genetically related to each other could also be viewed as kin.

The study found that it is likely there was cultural exchange between existing local groups and incomers.Dr Booth continues Even though they have no ancestry from the older population, they incorporatetheir monuments into their belief systems very quickly. They are burying people in these areas to reference these monuments as prestigious areas to bury their dead even though itwasnttheir genetic ancestors who built them.Stonehengeand its surrounding landscapeareemblematic to a certain extent because its important toallgroups in this period and when theyintegrate,it maintains its importance.

The paper was published inCambridge Archaeological Journal on 11 February 2021.

Notes foreditors

Media contact: Tel: +44 (0)779 969 0151 Email:press@nhm.ac.uk

About the Natural History Museum:

The Natural History Museum is both a world-leading science researchcentreand the most-visited natural history museum in Europe. With a vision of a future in which both people and the planet thrive, it is uniquely positioned to be a powerful champion for balancing humanitys needs with those of the natural world.

It is custodian of one of the worlds most important scientific collections comprising over 80 million specimens. The scale of this collection enables researchers from all over the world to document how species have and continue to respond to environmental changes - which is vital in helping predict what might happen in the future and informing future policies and plans to help the planet.

The Museums 300 scientists continue to represent one of the largest groups in the world studying and enabling research into every aspect of the natural world. Their science is contributing critical data to help the global fight to save the future of the planet from the major threats of climate change and biodiversity loss through to finding solutions such as the sustainable extraction of natural resources.

The Museum uses its enormous global reach and influence to meet its mission to create advocates for the planet - to inform, inspire and empower everyone to make a difference for nature. We welcome over five million visitors each year; our digital output reaches hundreds of thousands of people in over 200 countries each month and our touring exhibitions have been seen by around 30 million people in the last 10 years.

The Francis Crick Instituteis a biomedical discovery institute dedicated to understanding the fundamental biology underlying health and disease. Its work is helping to understand why disease develops and to translate discoveries into new ways to prevent, diagnose and treat illnesses such as cancer, heart disease, stroke, infections, and neurodegenerative diseases.

An independentorganisation, its founding partners are the Medical Research Council (MRC), Cancer Research UK,Wellcome, UCL (University College London), Imperial College London and Kings College London.

The Crick was formed in 2015, and in 2016 it moved into a brand new state-of-the-art building in central London which brings together 1500 scientists and support staff working collaboratively across disciplines, making it the biggest biomedical research facility under a single roof in Europe.http://crick.ac.uk/

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Experts discover new information on cultural exchange between different genetic groups and burials of close genetic relatives in the Stonehenge...

Sperm are simple cells with a straightforward job: swim until they reach an egg, then fertilize it. But in mice, some sperm resort to divisive tactics in order to gain the advantage.

A study published on February 4 in the journal PLOS Genetics shows that a genetic variation in mouse sperm, called the t-type, can give a swimmer the upper hand. These t-type sperm are able to spread a protein called RAC1 that essentially poisons other sperm. T-type sperm plant the seeds of destruction early in their development, then fortify themselves against RAC-1, Brandon Specktor reports for Live Science. When it comes time to race for the egg, the t-type sperm can swim in a straight line while poisoned sperm swim in hapless circles until they die.

We found out that the level of this protein can be more or less active, depending on whether the sperm have the gene to make it, and whether that gene is flipped on like a light switch, says biologist Alexandra Amaral of the Max Planck Institute for Molecular Genetics to Kassidy Vavra at Inverse. The level of protein that is on has to be quite well regulated. If it is too much, sperm don't move well. And if its too low, it also doesnt move well theyre kind of in circles.

T-type sperm produce the RAC1 protein at full throttle.

If all of the sperm in a group are t-type, and theyre all making RAC1, they will all struggle because there is so much of the poisonous protein going around, Sara Rigby reports for Science Focus magazine. On the other hand, if there are no t-type sperm present, then all the other sperm remain relatively healthy and swim well because theres no overabundance of RAC1. However, if a cohort has a mix of t-type and normal sperm, then t-type will have the advantage.

"The trick is that the t-haplotype 'poisons' all sperm, but at the same time produces an antidote, which acts only in t-sperm and protects them," says Bernhard Herrmann, director of the Max Planck Institute for Molecular Genetics, in a statement. "Imagine a marathon, in which all participants get poisoned drinking water, but some runners also take an antidote."

The t-type sperm do the equivalent of poisoning the drinking water early in sperm development, affecting both themselves and their non-variant peers. All of the sperm inherit genes that make it difficult to interpret the chemical signals around them. But in the final cell division of sperm development, when half of a cells genes go to one sperm and the other half to another, only the sperm that inherit the t-type variation have an extra set of genes that reverses the poisons effect, per Live Science.

The poisoned sperm end up swimming in circles, unable to advance in their quest. But the impervious t-type sperm swim ahead. In this case, theres a 99 percent chance that the sperm that fertilizes the egg first will have the t-type variation. The research shows the importance of small genetic variations in sperms success, Amaral tells Inverse.

The study was conducted in about 100 mouse sperm cells, but not all species sperm behave the same way, University of California, Berkeley, cell biologist Polina Lishko tells Inverse. The study is preliminary, but future research could illuminate the specific molecular mechanism behind RAC1 that makes it damaging to sperm at high levels.

An earlier study showed a similar effect of RAC1 on bull sperm, which is more similar to human sperm than a mouses is. Amaral says that the team plans to conduct future research with human sperm, to see if RAC1 might be involved with some cases of male infertility.

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Mice Sperm Sabotage Other Swimmers With Poison | Smart News - Smithsonian Magazine

It is not just a mother's love that endures.

A woman's influence on her children's health persists well into late middle age, according to a study published in the November issue of the European Journal of Preventive Cardiology.

The study, which enrolled almost 2,000 men and followed their families over 46 years - from 1971 to 2017 - found that the sons of women with heart-healthy lifestyles live nearly a decade longer without developing cardiovascular disease than those whose mothers have unhealthy lifestyles.

The study looked at the influence of both parents on offspring but found that men had little influence on their children's heart health in later life apart from the genes they passed on to them.

According to Dr Rohit Khurana, senior consultant cardiologist with The Harley Street Heart and Vascular Centre at Mount Elizabeth Medical Centre, told The New Paper: "While a pregnant woman's cardiovascular health (CVH) and lifestyle choices during pregnancy can affect her offspring's CVH, long-term CVH is also affected through parental behaviours and environmental influences.

"Children observe and acquire health behaviours within the family environment, with role modelling by primary caregivers being a significant contributor to children's long-term lifestyle choices.

"If primary caregivers, usually mothers, practise and instil a healthy lifestyle of balanced diets, regular exercise and minimal to zero alcohol and tobacco intake... their children are likely to continue those behaviours in adulthood.

"Those children will then pass good habits down to their children, thereby decreasing the risk of CVD (cardiovascular disease) within families for generations."

He added: "The research shows that parents, particularly mothers, are the gatekeepers of their children's CVH during formative years, which influences adult life. Numerous studies have proved that good lifestyle choices are a greater determining factor compared with genetics when it comes to optimal CVH."

According to the study, CVD incidence rates were higher among sons than daughters, (with one reason being that) women are less likely to indulge in risky behaviours.

For example, according to the World Health Organisation, about 40 per cent of the world's male population smokes, compared with only 9 per cent of women, and men are almost twice as likely to binge drink as women.

Studies also show that women generally eat more healthily and consume more fruit and vegetables than men.

Finally, women develop CVD later in life, after menopause and typically in their 60s or older; so fewer of the female participants in the study had reached the age when we would expect to see signs of CVD.

Mothers are still the primary caretakers of young ones, with more direct daily influence on diet and behaviour than fathers. They are still more likely to be disciplining, providing emotional support and generally monitoring the daily activities of their children.

Taking good care of your CVH during pregnancy is important because the heart works harder by increasing the body's blood volume to support a growing baby.

If you are a diabetic, a smoker or have high blood pressure during pregnancy, each of these things makes it harder for your heart to pump extra blood throughout your circulatory system, increasing the likelihood of maternal and neonatal mortality and morbidity.

This does not mean women with CVD risk factors should not get pregnant - it just means they should practise good preconception heart care including smoking cessation, cutting back on alcohol and weight management through regular exercise and a healthy diet rich in fruit, vegetables and fibre.

After women give birth, they should continue practising healthy behaviours at home as good examples to help children make positive choices, which become lifelong habits.

Telling children what to do will not always work as they need to see parents walk the talk.

Read more:
Sons of heart-healthy mums more likely to live 10 years longer: Study - The New Paper

Some sperm cells are ruthless manipulators that will literally poison their competition in the race to fertilize an egg, new research shows.

In a study published Feb. 4 in the journal PLOS Genetics, researchers from the Max Planck Institute for Molecular Genetics (MPIMG) in Berlin studied mouse sperm cells under the microscope to better understand the effects of a particular DNA sequence known as the t-haplotype. The team knew from previous research that sperm cells carrying this sequence tend to swim straighter (rather than in circles of death) and faster on average than competing sperm without it.

Now, they've found that those highly-effective sperms' tactics are a little less than sportsmanly.

Related: The 7 biggest mysteries of the human body

"Sperm with the t-haplotype manage to disable sperm without it," study co-author Bernhard Herrmann, director at the MPIMG, said in a statement. "The trick is that the thaplotype 'poisons' all sperm, but at the same time produces an antidote, which acts only in t-sperm [those with the t-haplotype] and protects them."

The result, Herrmann said, is sort of like a marathon "in which all the participants get poisoned drinking water," but only some of the runners have access to the antidote.

The t-haplotype is a series of linked genes occupying chromosome 17 in house mice all over the world. (Unlike humans, who have 23 pairs of chromosomes, mice have only 20). Herrmann and other researchers have called it a "selfish" gene genetic material with a single mission: to make copies of itself. Because of the t-haplotype's ruthless effectiveness at passing from one generation to the next, according to the researchers, male mice carrying one copy of the t-haplotype will transmit it to up to 99% of their offspring.

After studying more than 100 mouse sperm cells, Herrmann and his colleagues learned more about the selfish haplotype's devious tactics. They found that the t-haplotype "poisons" all sperm cells during the early phases of sperm production, injecting every cell with certain genes that inhibit their ability to regulate movement.

It's not until a later phase, when each cell divides in half, that the "antidote" comes into play. After dividing, half of the sperm cells inherit the t-haplotype genes on chromosome 17. For those lucky sperm, the t-haplotype provides new genetic variants that reverse the inhibiting effects of the "poison" that every cell consumed during the previous phase of development.

For the other half of sperm cells, which don't carry the t-haplotype or its genetic "antidote," life becomes a lot harder. These poisoned cells have a lot more trouble moving in a straight line (an important skill for a cell whose only job is to race full-speed-ahead to an unfertilized egg). In their study, the researchers saw that many sperm without the antidote literally swam in circles until they died, while their t-haplotype competitors charged straight ahead.

"Our data highlight the fact that sperm cells are ruthless competitors," Herrmann said. "Genetic differences can give individual sperm an advantage in the race for life, thus promoting the transmission of particular gene variants to the next generation."

Originally published on Live Science.

The rest is here:
Devious sperm 'poison' their rivals, forcing them to swim in circles until they die - Livescience.com

I once spoke to a human geneticist who declared that the notion of intelligence was quite meaningless, so I tried calling him unintelligent. He was annoyed

Nobel Prize laureate, Peter Medawar

Of all the endless nature vs nurture arguments, the debate over intelligence and race is the most toxic. It also seeps over into wider unease with human genetic research; the fear, for example, that recent advances in ancient human DNA analysis can be used by those with nefarious intentions to resurrect problematic race folk theories.

Given this seeming potential for reviving damaging beliefs, some scholars question whether we would be better off to give up on particular lines of research in the human sciences, including the quest to trace patterns of human migration. Others, meanwhile, argue for tighter restrictions on research into cognitive differences between different human populations. That said, the impetus to explore our ancestral evolution and its impacts remains an essential scientific pursuit, as it is at the backbone of research exploring how human differences impact disease and potential targeted cures.

Such arguments about race, intelligence and possible censorship were of particular concern to US-born and educated New Zealand scientist and intelligence researcher James Flynn, who died in December 2020, aged 86. Flynn was the IQ debates great scholarly champion of environment over genes, known for his respectful rebuke of scholars who took a more deterministic view of the complex relationship of intelligence, genes, and the environment.

This century-long debate flared in 1969 following the publication of an article in the Harvard Educational Review, in which psychologist Arthur Jensen claimed that observed IQ differences between Blacks and Whites was due mainly to genetics. Jensen further argued for a reset on the poverty reforms that were then rolling out under the Johnson Administration, arguing that compensatory education programs that assumed racial groups were blank slates with environment alone the only detriment to equality of performanceHead Start, for examplewere destined to fail.

The article caused an uproar that still rages. Jensen, who died in 2012, was widely denounced as a racist, particularly in the popular press and by social scientists. Instead, Jensens critics maintained that environmental factors rather than genes passed along in ancestral cohorts almost entirely explained racial disparities in test scores, a radical environmentalist position that few hard scientists hold today.

This was also when the movement to end the use of IQ tests first emerged. Today, persistent differences in SAT or ACT results among races have been cited as a reason to stop using the exam in college admissions. Last May, many University of California colleges announced they was scrapping its SAT or ACT requirement, as have many other American universities.

Having migrated to New Zealand in 1963 to escape the political repression of the McCarthy era, Flynn, now based at the University of Otago in Dunedin, responded skeptically to Jensens claims. And understandably so. For instance, how could Jensen explain away Flynns voluminous documentation that IQ scores among racial and ethnic groups world-wide have risen considerably from one generation to the next? In the 20th century, Flynn discovered, the scores of entire countries rose by more than the Black-White disparity in the entire US. How could that be if IQ was genetically fixed? He summarized much of this research in a ground-breaking response to Jensen published in 1980.

In 1987,in an article in American Psychologist, Jensen praised Flynns criticism of his own work:

I am asked by colleagues, students, and journalists: who, in my opinion, are the most respectable critics of my position on the race-IQ issue? The name James R. Flynn is by far the first that comes to mind. His book,Race, IQ and Jensen(1980), is a distinguished contribution to the literature on this topic, and, among the critiques I have seen of my position, is virtually in a class by itself for objectivity, thoroughness, and scholarly integrity.

In a study released in 2006, Flynn and a co-author, William Dickens, concluded that Black Americans had gained as many as seven IQ points on Whites since the early 1970s and into the 1990s, a finding that is hard to explain if intelligence is genetically fixed. The theory that Flynn developed was dubbed The Flynn Effect by scholars Richard Hernnstein and Charles Murray, co-authors of The Bell Curve: Intelligence and class structure in American life, the 1994 tome that faced similar harsh criticism as Jensens earlier expressed views.

In the decades since, numerous explanations of the Flynn effect have been proposed, as well as some skepticism about what has driven it and its implications. For example, there is intense debate about whether the rise in IQ scores corresponds to a rise in general intelligence or only a rise in special skills related to taking IQ tests, as schools have been turned into test-taking hot houses, in part because teacher salaries and administrative jobs are often tied to raising test scores.

Others argue that the Flynn Effects observed gains in IQ over time are unrelated tog (also known as general intelligence) that many psychometricians believe is a fairly unchangeable mental capacity. (g-scores are used in many professions to predict performance; e.g., the US military and even the National Football League, with its Wonderlic test, utilize g-weighted tests in their evaluations).

In parallel with the measured gains in IQ scores, long-term declines have been found for mental speed, digit span backwards, the use of difficult words, and color acuity, all of which are related to intelligence. More recently, the Flynn effect appears to be fading, as the IQ measure distance between some populations and others has grown. Research suggests that there is now a decline in IQ scores, in Norway, Denmark, Australia, Britain, the Netherlands, Sweden, Finland, France and German-speaking countries, a development which appears to have started in the 1990s. The Flynn effect appeared to have most influenced people born during the mid-1970s (co-incidentally a period of dramatic social transformation on racial issues), and has significantly declined ever since.

Flynn himself relished the debates that his research had stimulated. A life-long social democrat, he was outspoken in defence of free speech, including the right indeed, the desirability of open and honest debate on possible group differences in intelligence.

And this willingness to engage with those holding different opinions readily explains the reaction to news of Flynns death by his peers. Cognitive psychologist Steven Pinker, a sharp critic of blank slate post-modernist critical theory, immediately expressed sadness at the passing of a defender of Enlightenment ideals. Of particular note was the response of The Bell Curve co-author and conservative political scientist Charles Murray:

By Americas current standards of academic discourse, Jim Flynn and I should have been at each others throats, Murray said. We did in fact have different perspectives, though more nuanced than most people thought.

But those differences hadnt the slightest effect on Jims collegiality toward me or any of the people with whom he disagreed. How else are you going to learn, Jim thought, except by engaging with people who see things differently? Jim represented what a scholar is supposed to beopen, curious, passionate about his beliefs but without either self-righteousness or rancor, determined above all else to get it right.

Unfortunately, while scholars are supposed to be open and curious, much of the passion and argument over race and IQ has been self-righteous and rancorous. As Flynn himself readily acknowledged, those least open to discussion and most ready to censor opposing opinions, frequently came from his own leftist end of the political spectrum.

These were the ones, he argued, who boycott debate and put their money on indoctrination and intimidation, thereby forfeit[ing] a chance to persuade. (Here, Flynns position reflects characterizations of critical theory proponents that conservatives see as promoters of cancel culture.)

In his recent bestselling book, How to Argue With a Racist, geneticist Adam Rutherford emphasises the need to equip [people] with the scientific tools necessary to tackle questions on race, genes and ancestry and to provide a foundation to contest racism that appears to be grounded in science.

Jim Flynn, too, had long pointed to this danger that without an understanding of the scientific arguments, humane-egalitarian idealists would flounder against informed and articulate racists.

Censoring debate about the subject would then be doubly counter-productive, further removing the knowledge needed to challenge genuinely racist arguments or, more importantly, the political conclusions that arise from racist misinterpretations of human biological research.Thats the thrust of the argument made in GLP founders Jon Entine controversial but critically-praised book, 2000 Taboo: Why Black Athletes Dominate Sports and Why We are Afraid to Talk About Them, in which he wrote:

Although discussing racial differences is likely to provoke strong reactions, on balance and in proper context strong emotions are healthy.

The why of human differencesblack/white, male/female, Italian/Irish, between Slavic ethnic groups or one African tribe and anotheris likely to remain only crudely measurable. Racemarked by skin color, ethnicity, and geographyis a fuzzy concept. The challenge is in whether we can conduct the debate so that human diversity might be cause for celebration of our individuality rather than fanning distrust.

In one of his last essays on this topic, Flynn re-emphasised what Those who want to forbid discussion and scientific investigation ignore, for instance, the ability to defend your position with facts rather than just right opinion and the opportunity to hone your argument by having its weaknesses revealed. [T]ruth gains vitality from being challenged rather than being an unquestioned inheritance, he argued.

To kill an idea is to forfeit all rewards that may flow from reaction to that idea. If I had not read about [research into group differences], with its emphasis on IQ and the general intelligence factor, I would never have documented massive IQ gain over time, or urged a revolution in the theory of intelligence, or connected cognitive gains and moral gains

In contrast to Flynn, those who argue against open discussion of contentious science fear it will breathe new life into socially harmful ideas, akin to publicising the details of how to build massively destructive bombs or to create deadly viruses. And on their side of the argument is the undeniable fact that past beliefs about racial superiority/inferiority caused incalculable harm.

Nevertheless, the analogy with socially destructive bombs and viruses implies that everyone, regardless of existing political beliefs or values, would suffer through public debate of sensitive issues. Yet is this really the case? If, for example, evidence of genetic differences between racial populations was more widely discussed, would this inevitably lead more people to become racists? We believe not; the egalitarian moral belief that people should be treated equally is not dependent on people actually being equal in all respects.

Of course, given the odious history of twisted interpretations of Darwinian theories of race, some form of use or abuse analysis of proposed research is warranted. As part of this, though, the detrimental consequences of creating taboos on discussion must also be taken into account (for instance, conceding the argument to racist ideologues who may present themselves as simply telling the unpalatable truth that others are too scared to discuss).

In the absence of a scientifically accurate account of racial diversity, we cannot adequately challenge pseudo-scientific racist arguments. In addition, avoiding discussion of human biological diversity may limit our understanding of the genetic basis of disease and hamper medical research that could improve peoples lives.

The problem here is egalitarians tying their political values to actual facts about human biology; the mistaken belief that moral equality is dependent on all people being biologically or psychologically the same. Yet as Pinker argued in The Blank Slate: The modern denial of human nature, when scientific evidence appears to conflict with political values, people are tempted to suppress the facts and to clamp down on debate leav[ing] us unequipped to deal with just those problems for which new facts and analyses are most needed.

Geneticist David Reich has made much the same point about those who decry genetic research into human diversity as inherently racist. The well-meaning people who deny likely genetic differences between different human populations, Reich suggested, are digging themselves into an indefensible position, one that will not survive the onslaught of science.

And Flynn too emphasises where attempts at censorship miss their mark: Suppressing free inquiry is by its nature an expressive of contempt for truth by power. The truth can never be racist.

With regard to intelligence research, far from being massively destructive, such studies could, in future, prove hugely beneficial, especially in education. Without a clear understanding of human cognitive development, and how it is determined by both genes and environment, we are hamstrung in our attempts to improve an existing education system that persistently frustrates so many. Indeed, by ignoring the biological side of the interplay between genes and environment, we may be simply setting up many young people to fail, generation after generation. Those promoting practical uses of personal genomics, for instance, see the potential for tailoring education to reflect the needs and the abilities of individual learners, rather than forcing all learners into a one-size-fits-all system.

As for Flynn, he admitted to having no illusions that the debate over race and IQ will end.

And I do not deny that it could have social and political consequences. Perhaps someday we will conclude that a portion of the present gap will prove to be genetic in origin. I do not want to sugar the pill but will only say I am not too alarmed.

Yet even if the worst case scenario of ineluctable differences in cognitive ability proved to be the case (which is far from certain), this does not destroy the humane-egalitarian desire to create a better future society. After all, if everyone had a decent standard of living, much of the heat linking biology with racial inequality would fade a point Flynn illustrated with joking reference to his own Irish ancestry:

Assume that the lower job profile of Irish Americans compared to Chinese Americans is due in part to genes: I do not know one Irishman who cares (the English would be a different matter).

For the first time in history science, promises a glimpse of how the worlds different populations popularly and simplistically called races have evolved. Going forward, the tsunami of information genetic research is now unlocking will revolutionize medicine, as we develop targeted, personalized response to diseases based on individual and group inheritance. Research on the brain is just part of that mostly-promising and optimistic enterprise.

In his reflections on Human Diversity, a book that came out shortly before Flynns death, Charles Murray pointedly suggested that many of those most opposed to research on the brain and IQ mistakenly equate human intelligence with human worth. Thats understandable. With these caveats in mind, it is perhaps fitting here to leave the last word to Murray, Flynns supposed great adversary: in losing Jim Flynn, he says, We have lost an exemplar.

Disclosure: James Flynn was the external examiner of Patrick Whittles PhD thesis, looking at the implications of human evolutionary theory for egalitarian political ideas.

Patrick Whittle has a PhD in philosophy and is a New Zealand-based freelance writer with an interest in the social and political implications of biological science. Follow him on his website patrickmichaelwhittle.com or on Twitter @WhittlePM

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Can we have an open debate about IQ, genes, and group differences? Reassessing the legacy of James Flynn - Genetic Literacy Project

Introduction

Obesity is a common metabolic disorder and its prevalence is increasing worldwide.1 In Korea, the prevalence of obesity is rapidly increasing because of westernized diet and sedentary lifestyle; consequently, it has become a serious socioeconomic problem.2 According to an obesity fact sheet of Korea, the occurrence of obesity in adults increased from 29.7% in 2009 to 35.7% in 2018.3 Further, obesity is closely associated with increased risks of various chronic metabolic disorders, including diabetes mellitus (DM), hypertension, dyslipidemia, and cardiovascular diseases.1 According to the diabetes fact sheet in Korea, half of the patients with DM suffer from obesity.4 Therefore, the assessment and management of obesity is important to reduce obesity-related complications in a population.

Obesity results from the interactions between environmental and genetic factors. A previous study reported that genetic factors are responsible for approximately 4070% of the etiology of obesity.5 Moreover, advanced technologies such as genome-wide association studies have led to the identification of some candidate obesity-related genes.6

The vitamin D endocrine system plays a central role in bone and calcium homeostasis. Apart from its classical involvement, vitamin D also plays an important role in other metabolic pathways in immune system, cancers, and other endocrine systems.7 Although vitamin D deficiency has been associated with obesity,8,9 the exact underlying mechanisms leading to obesity have not been fully determined yet; regardless, some possible explanations, such as insulin resistance and lipolysis have been suggested.10

Vitamin D receptor (VDR; a member of the steroid/thyroid hormone receptor superfamily)11 in complex with vitamin D serves as a transcription activator and regulates gene transcription by binding to vitamin D responsive elements, which are located in the promoter region of the target genes. Therefore, genetic alterations of VDR gene can alter gene activation, and lead to various diseases.7 Furthermore, VDR gene is also expressed in adipocytes and pancreatic beta cells linked to insulin resistance and therefore it might be associated with body composition as well.12,13 More than 470 VDR polymorphisms have been identified in the VDR gene.14 Among them, the well-established VDR polymorphisms are as follows: FokI (rs2228570 C > T), BsmI (rs1544410 A > G), ApaI (rs7975232 C > T), TaqI (rs731236 T > C), and Cdx2 (rs11568820 A > G).15 A previous study has demonstrated that TaqI and BsmI polymorphisms are associated with obesity in French patients with type 2 diabetes mellitus (T2DM).16 In another study performed in the Thai population, the Cdx2 polymorphism was associated with a higher waist circumference; however, the four common polymorphisms (FokI, BsmI, ApaI, and TaqI) of the VDR gene did not show any association with BMI.17 In contrast, the VDR BsmI polymorphism has shown a significant association with vitamin D deficiency but not with the obesity phenotype in adolescents residing in Malaysia.8

So far, the previous studies have shown inconsistent results pertaining to the associations between VDR polymorphisms and obesity. Furthermore, there is a lack of data regarding the same in the Korean population, especially the data of patients with T2DM who have a higher risk of obesity. Therefore, in this study, we evaluated the association between BsmI and ApaI polymorphisms of the VDR gene and obesity in Korean patients with T2DM.

This was a single-center, casecontrol study. Patients who were diagnosed with T2DM and treated at the Chungbuk National University Hospital, Korea, were included in the study. The diagnosis of T2DM was performed by the World Health Organization criteria. Patients with type 1 DM and other types of DM were excluded from this study. The demographic data including age, sex, height, weight, BMI, duration of DM, and family history of DM were collected through reviewing of medical records. Further, the laboratory data, such as fasting plasma glucose (FPG), hemoglobin A1c (HbA1c), C-peptide, insulin, and liver function, kidney function, and lipid metabolism parameters, were also investigated for each patient.

BMI was used to evaluate obesity. The BMI (kg/m2) was calculated as baseline body weight (kg) divided by the square of the height (m2). Obesity was defined as a cutoff value of 25 kg/m2 BMI, according to Asian-Pacific guidelines.18

The two polymorphisms of VDR, BsmI and ApaI, were analyzed in this study. Peripheral leukocytes were isolated from ethylenediaminetetraacetic acid-treated whole blood obtained from each patient. Then, the genomic DNA was extracted for subsequent polymerase chain reactions (PCR). All the included T2DM patients were genotyped using PCR-restriction fragment length polymorphism method, for two restriction sites in the VDR gene, BsmI and ApaI using specific primer sequences. The following BsmI and ApaI primers were used for amplification: (BsmI) forward 5-CAA CCA AGA CTA CAA GTA CCG CGT CAG TGA-3 and reverse 5-AAC CAG CGG AAG AGG TCA AGG G-3. (ApaI) forward 5- GGG ACG CTG AGG GAT GGC AGA GC-3 and reverse 5-GGA AAGGGGTTAGGTTGGACAGGA-3. The primers of the VDR gene were designed based on previous literature.19 The PCR condition used for Bsm I as followed: an initial denaturation of 3 min at 94 C, followed by denaturation of 30 s at 94 C, annealing of 30 s at 62 C, and extension of 1 min at 72 C for 30 cycles, and a final extension of 5 min at 72 C. The PCR condition used for amplification of Apa1 as follows; 94 C for 10 min, and 30 cycles using the following temperature profile: 94 C for 1 min, 62 C for 1 min, 72 C for 1 min, and final elongation for 5 min. The PCR products were digested overnight at 37 C by Fermentas restriction enzymes, and then resolved in 1.5% agarose gel electrophoresis for the genotype analysis. We analyzed three genotypes for each polymorphism: BB, Bb, and bb for BsmI and AA, Aa, and aa for ApaI.

The probability of HardyWeinberg equilibrium was tested using the chi-squared test. The data were expressed as the mean standard deviation or as percentages for the categorical variables. The baseline characteristics were compared using Students t-test for the continuous variables and chi-squared test for categorical parameters. Multiple logistic regression analyses were performed to evaluate the relationship between obesity and the following variables: genotype, sex, age, duration of DM, hypertension, dyslipidemia, and HbA1c. All statistical analyses were performed using SPSS for Windows software 22.0 (IBM Corp., Armonk, NY, USA). The significance was set at P < 0.05.

The study was approved by the International Review Board of Chungbuk National University Hospital (IRB No. 201803-034-001) and conducted in accordance with the Declaration of Helsinki. All procedures were carried out with adequate understanding, and all patients gave their informed consent prior to being included in the study.

A total of 506 patients (266 males and 240 females) were included in this study. The demographic and biochemical characteristics of the patients are shown in Table 1. The mean age and BMI of the patients were 62.6 10.6 years and 25.1 3.5 kg/m2, respectively. The mean duration of DM was 14.7 7.5 years and approximately 51% of the patients had a family history of DM. The mean HbA1c and FPG values were 7.6 1.4% and 145.1 55.4 mg/dL, respectively. The patients were categorized into obesity group and normal weight group depending upon their BMI values. The mean BMI was 27.9 2.9 kg/m2 in the obesity group and 22.7 1.7 kg/m2 in the normal weight group (P <0.001). The proportion of females and prevalence of hypertension and dyslipidemia were higher in the obesity group than in the normal weight group. The duration of DM was shorter in the obesity group than in the normal weight group; however, family history of DM and serum HbA1c levels did not show significant differences between the two groups. The serum triglyceride levels were 172.6 120.3 mg/dL in the obesity group and 146.0 78.0 mg/dL in the normal weight group (P = 0.004). Finally, the liver enzymes, including aspartate aminotransferase (AST) and aspartate aminotransferase (ALT), were significantly higher in the obesity group than in the normal weight group.

Table 1 Baseline Characteristics of the Patients

Table 2 presents various parameters according to BsmI genotypes. Patients with the bb genotype (bb group) showed significantly higher BMI (25.2 3.5 kg/m2) than patients with BB or Bb genotypes (BB + Bb group; 24.1 3.1 kg/m2; P = 0.034). However, no significant differences were observed between the glucose metabolism, lipid metabolism, and liver enzyme parameters of the two groups.

Table 2 Various Parameters According to BsmI Genotypes

The clinical parameters according to ApaI genotypes are shown in Table 3. The mean BMI was 25.1 3.5 kg/m2 in patients with the Aa or aa genotypes (Aa + aa group) and 24.1 2.4 kg/m2 in patients with AA genotype (AA group); however, the difference was not significant (P = 0.180). Other laboratory findings were not significantly different between these two groups.

Table 3 Various Parameters According to ApaI Genotypes

The frequencies of BsmI genotypes in the patients were as follows: BB, 2.0% (n = 10); Bb, 10.3% (n = 52); and bb, 87.7% (n = 444). The frequencies of the ApaI genotypes in the patients were as follows: AA, 4.5% (n = 23); Aa, 46.8% (n = 237); and aa, 48.6% (n = 246; Supplementary Table 1). The bb group was significantly associated with a higher prevalence of obesity compared with the BB + Bb group (48.4% vs 33.9%; P = 0.031; Table 4). Moreover, the Aa + aa group showed a higher prevalence of obesity than the AA group (47.6% vs 26.1%; P = 0.043; Table 4). Furthermore, we performed a logistic regression analysis of the risk factors associated with obesity, and the related data are shown in Table 5. The non-B allele of BsmI was significantly associated with obesity, and the odds ratio (OR) was 2.132 (P = 0.014). The a-allele of ApaI also showed a significantly high risk of obesity (OR was 2.711, P = 0.048). Among other parameters, female sex, hypertension, and dyslipidemia were identified as the risk factors for obesity.

Table 4 Association Between Genotypes of VDR Polymorphisms and Obesity

Table 5 Logistic Analysis of Risk Factors to Determine Their Association with Obesity According to VDR Polymorphisms

In this study, we investigated the association between BsmI and ApaI polymorphisms in VDR gene and obesity in Korean patients with T2DM. We found that patients with T2DM carrying the bb genotype of VDR BsmI polymorphism were associated with higher BMI and increased risk of obesity than the BB or Bb genotypes. Although patients with the Aa or aa genotypes did not show significant differences in BMI (compared with the patients with AA genotype), the a-allele showed a significant correlation with obesity in the study population.

Recently, non-classical roles of vitamin D such as regulation of hormone secretion, immune function, cellular proliferation, and differentiation have emerged.20 Interestingly, previous studies have associated the effects of vitamin D with obesity. For instance, in a study of mixed-ethnicity participants, the individuals with obesity and those who were overweight showed a significant inverse correlation of serum 25-hydroxyvitamin D (25(OH)D) level with body weight, BMI, and waist circumference.21 Another study demonstrated that vitamin D affects energy expenditure through the upregulation of leptin gene expression.22 Further, the previous meta-analysis has reported that vitamin D deficiency is associated with obesity.23 Moreover, vitamin D improves insulin sensitivity; therefore, vitamin D deficiency may lead to the development of T2DM.24,25 Thus, these studies imply that vitamin D may play a possible role in obesity and obesity-related metabolic disorders.

Vitamin D binds to VDR to induce transcription pathways and gene expression. Therefore, genetic alterations of the VDR gene may hinder the gene activation and functions.7 As VDR expression has been found in adipose tissues, the association between obesity and VDR polymorphisms has also been investigated.8,9,16 In a study performed in French subjects with T2DM, BsmI and TaqI polymorphisms were associated with obesity; whereas ApaI did not show any significant correlation.16 This is in accordance with the results of our study. Another study showed that BsmI polymorphism was significantly associated with a higher BMI.26 Interestingly, conflicting results have been observed with respect to the association of obesity and ApaI polymorphisms. In a Chinese population, positive associations were observed between ApaI polymorphism and obesity (assessed by body fat percentage and skinfold thickness).27 In contrast, these associations were not observed in another study, which involved a study group of young Chinese males.28 In adolescents and young adults from Spain and Malaysia, no significant associations were observed between the VDR gene polymorphisms and obesity-related phenotypes.8,9 In recently published data, ApaI polymorphism appears to be correlated with overweightness and obesity in Chinese children.29 There are many ongoing studies and new SNP in VDR gene (rs3847987) have been shown an association with obesity phenotypes.30 Thus, to date, inconsistent results have been observed with respect to VDR polymorphisms and obesity. We believe that these differences may be attributed to different parameters such as sex, age, ethnicity, and behavioral characteristics. Further studies are needed and obesity is closely related to the development of T2DM and has been attributed to the progression of diabetic complications via various mechanisms.31,32 Therefore, it is possible that VDR polymorphisms, which are related to obesity, may be responsible for these complications in patients with T2DM. Previous studies have reported an association between VDR polymorphisms and diabetic complications.33,34 Results from the logistic regression analysis showed that BsmI and ApaI polymorphisms were strong risk factors for obesity. Thus, our data imply a possible effect of VDR polymorphisms on obesity in patients with T2DM, which is in accordance with the results of previous studies.16,26

To our knowledge, this is the first study to assess the association between the VDR polymorphisms and obesity in Korean patients with T2DM. The present study was performed in relatively homogenous subjects with similar ethnicities and disease statuses. However, there are several limitations of our study. First, we did not evaluate the serum 25(OH)D level, therefore, we could not determine whether the patients had vitamin D deficiency. Second, the clinical characteristics related to obesity such as physical activity and diet were not evaluated. Moreover, other parameters assessing obesity including waist circumference and body composition could not obtain due to the retrospective study design. Third, there was no control group of individuals without T2DM. Finally, not all VDR polymorphisms were investigated. Thus, we cannot rule out that other VDR polymorphisms may also be associated with obesity in the studied population.

In conclusion, the present study demonstrated that BsmI and ApaI polymorphisms of the VDR gene were associated with obesity in Korean patients with T2DM. However, further studies with larger multiethnic cohorts and experimental models are required to validate our results.

Parts of this study were presented at the International Congress on Obesity and Metabolic Syndrome, Seoul, Korea, 69 September 2018.

All retrospective data involving human participants were in accordance with the ethical standards and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Ethical approval was obtained by the Local Ethics Committee.

All authors made substantial contributions to conception and design, acquisition of data, or analysis and interpretation of data; took part in drafting the article or revising it critically for important intellectual content; agreed to submit to the current journal; gave final approval of the version to be published; and agree to be accountable for all aspects of the work. Everyone participated in the final approval of the manuscript.

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

The authors received no funding and report no conflicts of interest for this work.

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16. Ye WZ, Reis AF, Dubois-Laforgue D, Bellanne-Chantelot C, Timsit J, Velho G. Vitamin D receptor gene polymorphisms are associated with obesity in type 2 diabetic subjects with early age of onset. Eur J Endocrinol. 2001;145(2):181186. doi:10.1530/eje.0.1450181

17. Sangkaew B, Nuinoon M, Jeenduang N. Association of vitamin D receptor gene polymorphisms with serum 25(OH)D levels and metabolic syndrome in Thai population. Gene. 2018;659:5966. doi:10.1016/j.gene.2018.03.047

18. Pan WH, Yeh WT. How to define obesity? Evidence-based multiple action points for public awareness, screening, and treatment: an extension of Asian-Pacific recommendations. Asia Pac J Clin Nutr. 2008;17(3):370374.

19. Eltahir Khalid K. Vitamin D receptor gene polymorphisms in Sudanese children with type 1 diabetes. AIMS Genetics. 2016;3(3):167176. doi:10.3934/genet.2016.3.167

20. Bikle D. Nonclassic actions of vitamin D. J Clin Endocrinol Metab. 2009;94(1):2634. doi:10.1210/jc.2008-1454

21. McGill AT, Stewart JM, Lithander FE, Strik CM, Poppitt SD. Relationships of low serum vitamin D3 with anthropometry and markers of the metabolic syndrome and diabetes in overweight and obesity. Nutr J. 2008;7(1):4. doi:10.1186/1475-2891-7-4

22. Kong J, Chen Y, Zhu G, Zhao Q, Li YC. 1,25-Dihydroxyvitamin D3 upregulates leptin expression in mouse adipose tissue. J Endocrinol. 2013;216(2):265271. doi:10.1530/JOE-12-0344

23. Manousopoulou A, Al-Daghri NM, Garbis SD, Chrousos GP. Vitamin D and cardiovascular risk among adults with obesity: a systematic review and meta-analysis. Eur J Clin Invest. 2015;45(10):11131126. doi:10.1111/eci.12510

24. Teegarden D, Donkin SS. Vitamin D: emerging new roles in insulin sensitivity. Nutr Res Rev. 2009;22(1):8292. doi:10.1017/S0954422409389301

25. Palomer X, Gonzalez-Clemente JM, Blanco-Vaca F, Mauricio D. Role of vitamin D in the pathogenesis of type 2 diabetes mellitus. Diabetes Obes Metab. 2008;10(3):185197. doi:10.1111/j.1463-1326.2007.00710.x

26. Hasan HA, AbuOdeh RO, Muda W, Mohamed H, Samsudin AR. Association of vitamin D receptor gene polymorphisms with metabolic syndrome and its components among adult Arabs from the United Arab Emirates. Diabetes Metab Syndr. 2017;11(Suppl 2):S531S537. doi:10.1016/j.dsx.2017.03.047

27. Shen F, Wang Y, Sun H, et al. Vitamin D receptor gene polymorphisms are associated with triceps skin fold thickness and body fat percentage but not with body mass index or waist circumference in Han Chinese. Lipids Health Dis. 2019;18(1):97. doi:10.1186/s12944-019-1027-2

28. Gu JM, Xiao WJ, He JW, et al. Association between VDR and ESR1 gene polymorphisms with bone and obesity phenotypes in Chinese male nuclear families. Acta Pharmacol Sin. 2009;30(12):16341642. doi:10.1038/aps.2009.169

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31. King GL. The role of inflammatory cytokines in diabetes and its complications. J Periodontol. 2008;79(8 Suppl):15271534. doi:10.1902/jop.2008.080246

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33. Zhang H, Wang J, Yi B, et al. BsmI polymorphisms in vitamin D receptor gene are associated with diabetic nephropathy in type 2 diabetes in the Han Chinese population. Gene. 2012;495(2):183188. doi:10.1016/j.gene.2011.12.049

34. Hong YJ, Kang ES, Ji MJ, et al. Association between Bsm1 polymorphism in vitamin D receptor gene and diabetic retinopathy of type 2 diabetes in Korean population. Endocrinol Metab. 2015;30(4):469474. doi:10.3803/EnM.2015.30.4.469

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[Full text] The Associations Between Vitamin D Receptor BsmI and ApaI Polymorphism | DMSO - Dove Medical Press

By Karina Shah

Science History Images/Alamy

Sperm have one goal to reach the egg and fertilise it and it seems that some mouse sperm cells carrying a certain genetic mutation may boost their chances of doing so by sabotaging their rivals.

Bernhard Herrmann at the Max Planck Institute for Molecular Genetics in Berlin, Germany, and his colleagues analysed sperm samples from mice. They found that sperm from some mice, carrying a genetic variant called the t haplotype, move faster and swim in straight lines. Other sperm without this variant from the same mice swim less productively, often moving slower and in circles.

Previous research has shown that mice with two copies the t haplotype genetic variant are more likely to be infertile, but this new study suggests that males with one copy of the genetic variant produce these t haplotype sperm cells that are more motile than those without.

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This t haplotype genetic variant is a selfish genetic element, because it can increase its likelihood of being passed on to offspring to higher than the usual odds of 50 per cent, and now Hermann and his team have figured out how these sperm gain their advantage.

The sperm cells carrying one t haplotype variant produce certain molecules that are able to disturb other sperm cells. The gene variants make it difficult for the rival sperm cells to interact with their environment, blocking various cell signalling molecules that normally provide the sperm with a sense of direction. Although the t haplotype sperm cells were more motile as a result of this competitive edge, the researchers did not test their ability to fertilise an egg.

The team also found a link between sperm success and an important protein in the body called RAC1, which plays a role in general cell movement and directs the sperm cell towards the egg. The levels of RAC1 in the body have to be just right too high or too low and the sperm cells wont move straight.

Sperm immotility is a big deal in male infertility, says Herrmann. Investigating the levels of this protein in human samples could help to develop treatments for infertility in men, he says.

Journal reference: PLOS Genetics, DOI: 10.1371/journal.pgen.1009308

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Some mouse sperm try to sabotage rivals in race to fertilise the egg - New Scientist News

BERLIN, Germany The biological race between sperm to reach an egg is a fierce and competitive process. Now, researchers in Germany say they have discovered which protein gives sperm the winning edge. Their study finds a molecular switch in sperm could also allow men to turn their fertility on and off.

Experiments on mice find the winner carries a set of toxic mutations that poison rival sperm. Researchers say a genetic factor called t-haplotype promotes the success of the sperm carrying it. They are also fueled by a protein called RAC1, the molecular switch that propels sperm forward.

Sperm with this protein move faster than their peers, establishing an advantage in who reaches the egg first. The findings are expected to apply to humans as well. It could lead to a pill that boosts fertility in men, or a male oral contraceptive.

It would target this chemical, boosting or lowering levels. However, too much may cause male infertility. On average a man produces between 80 and 300 million sperm each time he ejaculates. Despite that, more than 60 percent of fertility issues are related to poor sperm, so its important to keep them healthy.

Sperm with the t-haplotype manage to disable sperm without it, says corresponding author Bernhard Herrmann of the Max Planck Institute for Molecular Genetics in a university release.

The trick is that the thaplotype poisons all sperm, but at the same time produces an antidote, which acts only in t-sperm and protects them. Imagine a marathon, in which all participants get poisoned drinking water, but some runners also take an antidote.

The study finds some of the genes carry mutations that distort regulatory signals, which then get distributed to all the sperm. These are the poison that disturbs progressive movement. The antidote comes into action after the set of chromosomes are split evenly between sperm during maturation, with each cell now containing only half.

Only those with the t-haplotype produce an additional factor that reverses the negative effect. Optimal amounts of RAC1 improve the competitiveness of individual sperm, offering fresh hope of combating male infertility.

It is literally a race for life when millions of sperm swim towards egg cells to fertilize them. Herrmann and colleagues described t-haplotype as a selfish and naturally occurring segment of DNA. It breaks the standard rules of genetic inheritance and awards a success rate of up to 99 percent to sperm cells containing it.

Analysis of individual sperm revealed most made only little progress on their paths and were genetically normal. On the other hand, straight moving sperm contained the t-haplotype. Crucially, RAC1 was identified as the key to differences in motility. It transmits signals from outside the cell to the inside by activating other proteins. RAC1 also directs sperm cells towards the egg, sniffing their way to the target.

The competitiveness of individual sperm seems to depend on an optimal level of active RAC1; both reduced or excessive RAC1 activity interferes with effective forward movement, first author Alexandra Amaral adds.

When the researchers treated the mixed population of sperm with a substance that inhibits RAC1, genetically normal sperm could now swim progressively. The advantage of t-sperm disappeared. The results explain why mice with two copies of the t-haplotype, one on each of the two chromosomes 17, are sterile.

They produce only sperm that carry the t-haplotype. These cells have much higher levels of active RAC1 than sperm from genetically normal mice. However, sperm from normal mice treated with the RAC1 inhibitor also lost their ability to move progressively. In other words, too little RAC1 activity is also disadvantageous. The researchers believe abnormal RAC1 activity might also be the underlying problem in forms of human infertility among men.

Our data highlight the fact that sperm cells are ruthless competitors, Herrmann says.

Furthermore, the example of the t-haplotype demonstrates how some genes use somewhat dirty tricks to get passed on.

Genetic differences can give individual sperm an advantage in the race for life, thus promoting the transmission of particular gene variants to the next generation.

The groundbreaking study appears in the journal PLoS Genetics.

SWNS writer Mark Waghorn contributed to this report.

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Sperm switch would allow men to turn their fertility on and off - Study Finds

A former friend once told me that she would never date a Black man because she finds dark skin unattractive. She is white. While I was not surprised by her statement, I nonetheless felt uncomfortable and frustrated. This was not the first time I encountered blatantly racist ideas about attractiveness, nor are such beliefs novel to many Black people and people of color, more broadly.

Racism is oddly tolerated in the dating realm, allowing racist beliefs to be passed off as innocuous preferences. However, such preferences mandate myopically believing in white-centric standards of beauty and lumping together people of color based on racist stereotypes.

Take the trend shown in the Tiktok video below as a microcosmic representation of this problem. The video starts with a white man pointing to the camera with the caption, Look its the dude who think black girls attractive. Seven other men (including Black men) responded to the video by recording themselves turning and looking over their shoulder, indicating that they do not find Black women attractive. This particular version ends with a different white man, @btcm_abbc, crossing his arms and leaning back against a table, indicating that he does think Black women are attractive. He says, What about it?

(Note that @btcm_abbc does not objectify or hypersexualize Black women. This would have been fetishization, which I talk about later.)

Not degrading Black women should be the bare minimum, yet here we are. Although users declare their preferences very casually, racism ultimately drives the belief that Black women are unattractive.

Race is a social construct not grounded in genetics. When early racial theorists/white supremacists invented race and used it to justify slavery and colonialism, they lauded whiteness as exceptionally attractive.

Building the myth of white supremacy also mandated the fabrication of stereotypes about appearance. However, no physical trait or set of traits is unique to or accurately describes an entire racial group.

While American beauty standards have somewhat evolved to be more inclusive, colorism is still rampant inside and outside of Black, Latinx, and Asian American communities; natural hairstyles are still widely regarded as unprofessional or dirty (unless the wearer is not Black); and representation of people of color in mainstream media is seriously lacking. This all stems, in part, from Western societies mobilizing a racialized definition of beauty and framing whiteness as a default state of being.

Blind adherence to the idea that proximity to whiteness equates to beauty fails to acknowledge that standards of beauty have to be created and sold, just like the racist beliefs that shape them. Therefore, racial preferences based on physical attributes are neither harmless or arbitrary: they are racist. Such beliefs ultimately result from internalizing, and thus perpetuating, overt or covert messaging that whiteness is superior.

This messaging also contributes to beliefs about personality based on race. If someone arrives at the conclusion that x group of people is un/attractive because they lack/possess y personality trait, they are dehumanizing and racially stereotyping members of that group. This includes stereotypes frequently used to justify not preferring members of certain racial groups (such as the stereotypes that Black women are too loud and Asian men are effeminate), as well as stereotypes that lead to preferring members of certain groups.

Stereotypes that rely on exoticizing and hypersexualizing people of color lead to fetishization, a sexual obsession fueled by objectification. Fetishization of Black men and women represents one example. The medias obsession with the Spicy Latina represents another. Still one more is yellow fever, the fetishization of Asian people.

Yellow fever originates from popular Western portrayals of Asian women as submissive, passive, and exotic that proliferated during the 19th century. These stereotypes have persisted and since merged with the model minority myth, contributing to the fetishization of Asian women among the white supremacists of the alt-right. Obsession with male K-pop idols and their soft masculinity has contributed to the fetishization of Asian men as well.

@_itsjing lists real messages she has received from men who have yellow fever.

Fetishizing someone is not a compliment. Yellow fever fails to recognize the individuality, personality, and humanity of Asian people, instead reducing them down into the same monolithic caricature on the basis of their race.

@sourandnasty talks about a related problem: the idea that someone would only be attracted to Asian people if they have yellow fever.

Think about which traits are attractive to you. Do you want a partner who has a good sense of humor? Someone who is kind and compassionate? Flirty? Thoughtful? Loyal? Would you avoid someone who is rude? Dishonest? A bad listener? These are human traits that have nothing to do with race. Someone saying that they do/do not prefer members of a certain race based on their having/lacking those traits is simply absurd.

The video below demonstrates this: in it, @mmdvg40 acts as himself and a potential romantic interest (played by him with a paper towel on his head). The romantic interest describes various traits she finds attractive, such as a sense of humor and a taste for indie music, all of which @mmdvg40 possesses. However, he eventually figures out that she has a bias against Black men, despite claiming to be not racist.

Across the political spectrum, those who pride themselves on being anti-racist (or at least emphatically claim that they are not racist) sometimes fail to engage with how their beliefs have been shaped by systems and messaging intended to perpetuate racial inequality.

In the video below, @ambermorman46 and a co-TikToker say, Were we really ugly, or did we just go to a predominantly white school? Anyways. The point is that whiteness is not the pinnacle of beauty despite the racist spaces and beliefs that promote it as such.

Too often at institutions like Princeton and beyond, the euphemizing language of preference is used to conceal beliefs that result from failure to question and willingness to embrace the tenets of white supremacy deeply embedded into Western societies. An ignorant conception of beauty centered on whiteness and characterized by stereotypes perpetuates racism, regardless of how insistently someone maintains that their preferences are not racist.

Brittani Telfair is a junior from Richmond, Va. majoring in SPIA and pursuing a certificate in African American Studies. She can be reached at btelfair@princeton.edu.

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Decolonize dating: a Tiktok essay - The Princetonian - The Daily Princetonian

It is important to recognize the signs of a heart attack, which can vary by person. Sometimes a person may have a heart attack without realizing it and not seek the emergency medical care they need. That could lead to lasting heart damage.

The medical name for a heart attack is a myocardial infarction (MI).

A heart attack usually happens because a coronary artery becomes blocked, reducing or stopping the nourishing blood supply to the heart muscle.

Chest pain is the most recognized sign of a heart attack, but the symptoms someone experiences can depend on their gender and age.

It is essential to identify a heart attack as early as possible and seek prompt medical attention. Treatment can minimize damage and increase the chances of a full recovery.

This article looks at the various symptoms of heart attacks, how these may vary in females and older adults, and when to seek medical attention. It also looks at risk factors, treatment, and prevention.

Most people know that chest pain is a typical heart attack symptom. However, a heart attack can affect the entire body, not just the heart.

Individuals of different ages and sexes may experiences heart attack symptoms differently.

Most heart attacks do have several defining symptoms, which according to the Centers for Disease Control and Prevention (CDC), are:

Heart attacks typically involve some level of pain or discomfort in the chests middle or left side. It may feel like sharper pain, or more like squeezing, fullness, or uncomfortable pressure.

Usually, this accompanies chest pain, but shortness of breath may also begin before any chest discomfort.

A person may feel pain or discomfort in one or both arms, which can radiate to the shoulders. There may also be pain in the neck, jaw, or back.

Someone may feel weak, faint, or break out into a cold sweat.

Heart attack symptoms may show up differently in females, and may seem less evident or unrelated to heart problems.

The following are common heart attack symptoms in females that can occur with or without chest pain:

Because heart attacks are commonly associated with chest pain, females often misread their symptoms and delay consulting a doctor.

It is crucial that everyone, especially females, recognize heart attack symptoms that may be atypical and seek immediate medical help when necessary.

Like females, older adults who experience heart attacks may have non-typical symptoms.

Asymptomatic or silent heart attacks are more common in older adults, and chest pain is an infrequent finding.

During a silent heart attack, someone may experience no symptoms and feel relatively well apart from feeling unusually tired or short of breath. They may also show one or more of the signs associated with heart attacks in females.

The National Heart, Lung, And Blood Institute state that acting quickly could save someones life in the case of a heart attack.

Even if an individual is not entirely certain they are experiencing a heart attack, it is best to seek emergency medical help to limit any potential damage to the heart.

The consequences of an untreated heart attack could be severe.

People should always seek medical attention if they suspect a heart attack.

If someone experiences heart attack symptoms for more than 15 minutes, the hearts muscle cells are at a high risk of damage.

From the onset of symptoms, an individual has less than 90 minutes before critical damage levels occur.

If the heart does not receive oxygenated blood, it cannot function normally, which can cause a heart attack. This can happen when a coronary artery is partially or fully blocked.

The most common cause of blocked coronary arteries is coronary heart disease.

When coronary heart disease occurs, fats and cholesterol can form deposits or plaques on the arterial walls, called atherosclerosis.

Over time, the plaques narrow the arteries, and eventually, this obstructs blood flow.

Use of recreational drugs, such as cocaine, can also cause heart attacks.

Several factors increase an individuals risk of a heart attack. These include being age 65 or over, being male, or having a family history of heart disease.

Race also plays a part, as people of African, Mexican, and American Indian descent are at higher risk.

There are also modifiable factors that increase the risk of heart attacks. These include:

The good news is that people can change, treat, or control the modifiable risk factors to reduce the chances of having a heart attack.

Anyone who thinks they are having a heart attack should immediately seek medical attention.

A doctor will diagnose heart attack based on symptoms, age, general health, and family history. They will also carry out tests including:

If the tests show that an individual has had a heart attack, doctors may recommend the following procedures:

A doctor may also treat a heart attack with medications to thin the blood, break up clots, relax the blood vessels, and help with pain relief.

Heart attacks can damage the heart muscle, leading to complications including:

The severity and duration of any complications often depend on how much damage the heart attack caused to the heart muscle.

Although people cannot control all the risk factors of heart attacks, such as gender, age, and genetics, habit changes could help with prevention. These include:

Fortunately, for most people, having a heart attack does not mean the end of a normal, healthy life. However, around 20% of people over age 45 will have further heart attacks in the 5 years following their first.

For this reason, it is important to focus on living a lifestyle that can help prevent heart problems in the future.

Although most people are familiar with a heart attacks common signs, such as chest pain and breathlessness, they may not realize that females and older adults can experience heart attacks differently.

In these groups, heart attack symptoms such as indigestion and extreme fatigue can seem unrelated.

If someone is experiencing any symptoms that may be related to heart problems, they should seek immediate medical attention.

Prompt treatment can save someones life and prevent permanent heart damage from occurring.

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How to recognize the signs of a heart attack and what to do - Medical News Today

The NutriNet-Sant study is an ongoing investigation into the relationship between nutrition and health. In this Special Feature, we look at some of the projects findings and speak with Principal Investigator Dr. Mathilde Touvier, who has been involved in the study since its inception.

A range of factors influences health, including genetics, lifestyle, environmental factors, and diet. Unraveling the complex relationships between these factors is a challenge.

For many reasons, it is incredibly difficult to investigate the role of nutrition in health and disease. For instance, no two people eat the exact same diet, and very few people eat the exact same food 2 days in a row.

As it is neither feasible nor ethical to ask thousands of people to follow a strict diet for 10 years to see what happens, researchers have to find other ways of unpicking the links between diet and disease.

The best way to tackle any difficult health-related question is to generate as much good quality data as possible, and this is the NutriNet-Sant studys raison detre.

Beginning in 2009, the NutriNet-Sant study was the first internet-based study of its kind. By the start of 2021, the team was regularly collecting data from 171,000 people aged 15 years and older, making it the largest ongoing nutrition study in the world.

Now running in France and Belgium, the team is also seeding similar projects in Canada, Mexico, and Brazil.

Specifically, the researchers set out with the following aims:

The researchers keep a biobank of serum, plasma, and urine from about 20,000 people. They also collect stool to monitor and analyze gut bacteria.

Alongside questions about food intake, the NutriNet-Sant team collects information about food packaging, cooking practices, mode of production, physical activity, tobacco, drugs, environmental factors, and domestic and professional exposures.

Importantly, data from the NutriNet-Sant study are linked with medical and insurance records to improve accuracy regarding medications, diagnoses, and long-term sick leave. The study is financed entirely by public institutions.

Article highlights:

In recent years, ultra-processed foods have become a nutritional pariah, and the NutriNet-Sant study has played no small part in this.

Over recent years, data from the NutriNet-Sant study have revealed associations between diets high in ultra-processed foods and an increased risk of cancer, cardiovascular disease, mortality, depressive symptoms, type 2 diabetes, obesity, and gastrointestinal disorders.

As an example, one paper based on data from the NutriNet-Sant cohort, which appeared in the BMJ in 2018, concluded:

In this large prospective study, a 10% increase in the proportion of ultra-processed foods in the diet was associated with a significant increase of greater than 10% in risks of overall and breast cancer.

Another study using their data, which also appeared in BMJ, concludes:

[H]igher consumption of ultra-processed foods was associated with higher risks of cardiovascular, coronary heart, and cerebrovascular diseases.

Yet more research, which appeared in BMC Medicine in 2019, investigated ultra-processed foods and their links with depression. The authors write:

Overall, [ultra-processed food] consumption was positively associated with the risk of incident depressive symptoms, suggesting that accounting for this non-nutritional aspect of the diet could be important for mental health promotion.

Next, the NutriNet-Sant researchers plan to investigate the causative aspects of this relationship. They will drill down into the specific compounds that might be responsible.

According to Dr. Touvier, thanks to the researchers wealth of nutrition data, they can now estimate the additive exposure for more than 330 additives authorized in Europe and also detect the mixtures of additives that are consumed by the population.

They have already identified these cocktails of additives and are now searching for relationships between particular mixtures of compounds and specific disease states.

Understanding which foods are associated with which health conditions is important, but the next step changing behavior can be even more challenging.

To address this, the NutriNet-Sant study focused on food labeling. Although product labels already provide information about levels of fat, sugar, and other ingredients, as Dr. Touvier pointed out, quickly gauging whether a product is healthful as you rush around a grocery store is not easy.

With this in mind, the NutriNet-Sant group designed Nutri-Score. This simple label gives each product a score from A to E, with A being the most healthful and E the least healthful.

The scoring system takes into account the amount of sugar, saturated fats, sodium, protein, fiber, fruits, vegetables, nuts, and legumes to provide a score.

The score has been validated against many health outcomes, using the NutriNet-Sant cohort [and other cohorts]. So we showed that people who ate foods with a better score had less risk of cancers, cardiovascular disease, obesity, and so on. We also validated it in other independent cohorts, explained Dr. Touvier.

We also used the NutriNet-Sant cohort to validate how the score is understood and used by participants to rate nutritional quality.

And, even more importantly, the research has shown that in a grocery setting, people with access to this type of labeling choose more healthful foods. As the authors of one paper explain:

The Nutri-Score was associated with a higher nutritional quality of purchases in experimental and large scale trials.

In France, some companies are already applying this label on a voluntary basis. To date, 520 firms, including a total of 690 brands, have registered to use the scoring system.

Dr. Touvier and the team are currently trying to convince the European Union to roll out the scoring system throughout the E.U. in 2022. However, they are facing stiff resistance from certain large food corporations and their lobbying groups.

More than 40 published studies back the benefits of the Nutri-Score. Dr. Touvier hopes that it will be adopted because, for the consumer, we really showed it will have a great impact.

Over the years, there has been a fair amount of controversy around the benefits of eating organic produce. As Dr. Touvier explained, until recently, there were simply not enough data to make connections between these products and health outcomes.

Once again, the NutriNet-Sant study has begun to fill these gaps. According to Dr. Touvier, the team found an association between higher concentrations of organic food and a lower risk of breast cancer and lymphoma. Similarly, the data showed a lower risk of obesity, overweight, and metabolic syndrome.

The researchers have also demonstrated that people who eat more organic foods have lower levels of pesticides in their urine. Next, they plan to quantify exposures to the various types of pesticides and identify cocktails of pesticide exposures. They are in the process of assessing whether certain pesticidal cocktails might be associated with specific health outcomes.

According to Dr. Touvier, one such study, which has just been accepted for publication in the International Journal of Epidemiology, found that:

People exposed to these cocktails of pesticides had a higher risk of postmenopausal breast cancer.

As the COVID-19 pandemic continues, so does NutriNet-Sants data collection. The scientists are tracking how diets have shifted during these unusual times.

One study, for instance, showed that the pandemic has affected people differently, with some eating less healthfully and others improving their diet significantly.

We saw a very diverse profile of participants. Some of them started to eat more sugary foods and to eat between meals because they were bored or stressed. Also, they lowered the level of physical activity. [] For these participants, we saw an increase in body weight, explained Dr. Touvier. But the pandemic has had different effects on other people, she noted:

Other participants began to cook more at home, so less processed foods and more homemade meals, and they increased their level of physical activity [] These participants lost weight.

The NutriNet-Sant scientists also found that there were people who had made no change to their diet or level of activity.

As the researchers have also collected dried blood spots from more than 20,000 participants, they are able to detect anti-SARS-CoV-2 antibodies.

They are currently working on a way to link infection to diet. This research could reveal whether any dietary patterns are associated with an increased risk of SARS-CoV-2 infection or, conversely, whether any nutritional profiles are associated with a protective effect.

Investigating nutrition is challenging. Every individual eats hundreds or thousands of ingredients each week, and no two diets are the same. Also, when scientists rely on self-reported dietary information, they are likely to get imprecise answers.

The NutriNet-Sant study was the first to use online questionnaires to collect data. As trailblazers for this methodology, the researchers spent a great deal of energy making sure that the data they were collecting were accurate and meaningful.

Medical News Today asked Dr. Touvier how the NutriNet-Sant study team went about this. She explained that early on in the study, the investigators ran a series of validation studies in which they checked participants self-reported food intake against their blood and urinary biomarkers and their phone interviews with trained dietitians.

They found a high correlation between the information coming from participants, blood markers, and interview data.

In some cases, the data they collected were more reliable than the phone interviews. Dr. Touvier explained that some participants were more likely to enter unhealthful food in the anonymous online form than they were to mention it when speaking with a dietitian. She said:

Its not perfect. Its still an observational study, but we have validated all of these methods, so they are reliable.

Another common issue that nutrition scientists face is that one brand of frozen pizza is not the same as another, and one bag of chips can harbor entirely different ingredients than another.

To help minimize this issue, the researchers designed a barcode reader that allows participants to scan their food items directly into the system. In this way, the scientists have direct access to the precise nutritional content of the food item.

Another significant issue with nutrition research is the role of industry bias. Studies that receive funding from interested parties are more likely to report the benefits of their produce. The NutriNet-Sant study, however, is publicly funded, and the data are not open access.

As Dr. Touvier explained, we have a moral agreement with the participants not to provide the data to the food industry. However, the team does share their data with other public researchers.

Correlation versus causation is the thorn in any observational studys heel. Finding an association is one thing, but proving that one factor directly causes another is a different challenge altogether. To ensure that the researchers chop away as many confounding factors as possible, they track a great number of variables.

For instance, they keep anthropometric data, such as height and weight; socioeconomic data; information about participants occupations so that they can track potential environmental exposures to chemicals, for instance; medical history; current and past medications; activity levels; and more.

The NutriNet-Sant scientists are beginning to dive even deeper into the complexities of nutrition and health. Beyond the nutritional makeup of foods, they are beginning to investigate how the packaging might interact with food items and influence health. Their innovative barcode system helps them collate this information.

These data will also help with investigating sustainability, which is another area on which the team is beginning to focus.

The wealth of data that the NutriNet-Sant team has collected and continues to collect will slowly allow scientists to answer increasingly complex questions.

As the number of participants in the study steadily grows, Dr. Touvier hopes that the NutriNet-Sant team can continue indefinitely. Undoubtedly, the insights that this team generates will have a beneficial effect on the health of future generations.

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What have we learned from the worlds largest nutrition study? - Medical News Today

Their eyes met across the rugged mountain landscape of prehistoric Romania.

He was a Neanderthal, and stark naked apart from a fur cape. He had good posture and pale skin, perhaps reddened slightly with sunburn. Around one of his thick, muscular biceps he wore bracelet of eagle-talons. She was an early modern human, clad in an animal-skin coat with a wolf-fur trim. She had dark skin, long legs, and her hair was worn in braids.

He cleared his throat, looked her up and down, and in an absurdly high-pitched, nasal voice deployed his best chat-up line. She stared back blankly. Luckily for him, they didnt speak the same language. They had an awkward laugh and, well, we can all guess what happened next.

Of course, it could have been far less like a scene from a steamy romance novel. Perhaps the woman was actually the Neanderthal and the man belonged to our own species. Maybe their relationship was of the casual, pragmatic kind, because there just werent many people around at the time. Its even been suggested, too, that such hook-ups werent consensual.

While we will never know what really happened in this encounter or others like it what we can be sure of is that such a couple did get together. Around 37,000-42,000 years later, in February 2002, two explorers made an extraordinary discovery in an underground cave system in the southwestern Carpathian mountains, near the Romanian town of Anina.

Even getting there was no easy task. First they waded neck-deep in an underground river for 200m (656ft). Then came a scuba dive for 30m (98ft) along an underwater passage, followed by a 300-metre (984ft) ascent up to the poarta, or mouse hole an opening through which they entered a previously unknown chamber.

Inside the Petera cu Oase, or "Cave with Bones", they found thousands of mammalian bones. Over its long history, its thought to have primarily been inhabited by male cave bears extinct relatives of the brown bear to which they largely belong. Resting on the surface among them was a human jawbone, which radiocarbon dating revealed to be from one of the oldest known early modern humans in Europe.

The rest is here:
Here's what we know sex with Neanderthals was like - BBC News

Odin, in Norse mythology, is an extremely powerful god whos also a trickster. He has only one eye, having sacrificed the other for wisdom. Among his many talents, he can wake the dead, calm storms, cure the sick, and blind his enemies. Not infrequently, he transforms himself into an animal; as a snake, he acquires the gift of poetry, which he transfers to people, inadvertently.

The Odin, in Oakland, California, is a company that sells genetic-engineering kits. The companys founder, Josiah Zayner, sports a side-swept undercut, multiple piercings, and a tattoo that urges: Create Something Beautiful. He holds a Ph.D. in biophysics and is a well-known provocateur. Among his many stunts, he has coaxed his skin to produce a fluorescent protein, ingested a friends poop in a D.I.Y. fecal-matter transplant, and attempted to deactivate one of his genes so that he could grow bigger muscles. (This last effort, he acknowledges, failed.) Zayner calls himself a genetic designer and has said that his goal is to give people access to the resources they need to modify life in their spare time.

The Odins offerings range from a Biohack the Planet shot glass, which costs three bucks, to a genetic engineering home lab kit, which runs almost two thousand dollars and includes a centrifuge, a polymerase-chain-reaction machine, and an electrophoresis gel box. I opted for something in between: the bacterial CRISPR and fluorescent yeast combo kit, which set me back two hundred and nine dollars. It came in a cardboard box decorated with the companys logo, a twisting tree circled by a double helix. The tree, I believe, is supposed to represent Yggdrasil, whose trunk, in Norse mythology, rises through the center of the cosmos.

Inside the box, I found an assortment of lab toolspipette tips, petri dishes, disposable glovesas well as several vials containing E. coli and all Id need to rearrange its genome. The E. coli went into the fridge, next to the butter. The other vials went into a bin in the freezer, with the ice cream.

Genetic engineering is, by now, middle-aged. The first genetically engineered bacterium was produced in 1973. This was soon followed by a genetically engineered mouse, in 1974, and a genetically engineered tobacco plant, in 1983. The first genetically engineered food approved for human consumption, the Flavr Savr tomato, was introduced in 1994; it proved such a disappointment that it went out of production a few years later. Genetically engineered varieties of corn and soy were developed around the same time; these, by contrast, have become more or less ubiquitous.

In the past decade or so, genetic engineering has undergone its own transformation, thanks to CRISPRshorthand for a suite of techniques, mostly borrowed from bacteria, that make it vastly easier for biohackers and researchers to manipulate DNA. (The acronym stands for clustered regularly interspaced short palindromic repeats.) CRISPR allows its users to snip a stretch of DNA and then either disable the affected sequence or replace it with a new one.

The possibilities that follow are pretty much endless. Jennifer Doudna, a professor at the University of California, Berkeley, and one of the developers of CRISPR, has put it like this: we now have a way to rewrite the very molecules of life any way we wish. With CRISPR, biologists have already createdamong many, many other living thingsants that cant smell, beagles that put on superhero-like brawn, pigs that resist swine fever, macaques that suffer from sleep disorders, coffee beans that contain no caffeine, salmon that dont lay eggs, mice that dont get fat, and bacteria whose genes contain, in code, Eadweard Muybridges famous series of photographs showing a horse in motion. Two years ago, a Chinese scientist, He Jiankui, announced that he had produced the worlds first CRISPR-edited humans, twin baby girls. According to He, the girls genes had been tweaked to confer resistance to H.I.V., though whether this is actually the case remains unclear. Following his announcement, He was fired from his academic post, in Shenzhen, and sentenced to three years in prison.

I have almost no experience in genetics and have not done hands-on lab work since high school. Still, by following the instructions that came in the box from the Odin, in the course of a weekend I was able to create a novel organism. First I grew a colony of E. coli in one of the petri dishes. Then I doused it with the various proteins and bits of designer DNA Id stored in the freezer. The process swapped out one letter of the bacterias genome, replacing an A (adenine) with a C (cytosine). Thanks to this emendation, my new and improved E. coli could, in effect, thumb its nose at streptomycin, a powerful antibiotic. Although it felt a little creepy engineering a drug-resistant strain of E. coli in my kitchen, there was also a definite sense of achievement, so much so that I decided to move on to the second project in the kit: inserting a jellyfish gene into yeast in order to make it glow.

The Australian Centre for Disease Preparedness, in the city of Geelong, is one of the most advanced high-containment laboratories in the world. It sits behind two sets of gates, the second of which is intended to foil truck bombers, and its poured-concrete walls are thick enough, I was told, to withstand a plane crash. There are five hundred and twenty air-lock doors at the facility and four levels of security. Its where youd want to be in the zombie apocalypse, a staff member told me. Until recently, the center was known as the Australian Animal Health Laboratory, and at the highest biosecurity levelBSL-4there are vials of some of the nastiest animal-borne pathogens on the planet, including Ebola. (The laboratory gets a shout-out in the movie Contagion.) Staff members who work in BSL-4 units cant wear their own clothes into the lab and have to shower for at least three minutes before heading home. The animals at the facility, for their part, cant leave at all. Their only way out is through the incinerator is how one employee put it to me.

About a year ago, not long before the pandemic began, I paid a visit to the center, which is an hour southwest of Melbourne. The draw was an experiment on a species of giant toad known familiarly as the cane toad. The toad was introduced to Australia as an agent of pest control, but it promptly got out of control itself, producing an ecological disaster. Researchers at the A.C.D.P. were hoping to put the toad back in the bottle, as it were, using CRISPR.

A molecular biologist named Mark Tizard, who was in charge of the project, had agreed to show me around. Tizard is a slight man with a fringe of white hair and twinkling blue eyes. Like many of the scientists I met in Australia, hes from somewhere elsein his case, England. Before getting into amphibians, Tizard worked mostly on poultry. Several years ago, he and some colleagues at the center inserted a jellyfish gene into a hen. This gene, similar to the one I was planning to plug into my yeast, encodes a fluorescent protein. A chicken in possession of it will, as a consequence, emit an eerie glow under UV light. Next, Tizard figured out a way to insert the fluorescence gene so that it would be passed down to male offspring only. The result is a hen whose chicks can be sexed while theyre still in their shells.

Tizard knows that many people are freaked out by genetically modified organisms. They find the idea of eating them repugnant, and of releasing them into the world anathema. Though hes no provocateur, he, like Zayner, believes that such people are looking at things all wrong. We have chickens that glow green, Tizard told me. And so we have school groups that come, and when they see the green chicken, you know, some of the kids go, Oh, thats really cool. Hey, if I eat that chicken, will I turn green? And Im, like, You eat chicken already, right? Have you grown feathers and a beak?

Anyway, according to Tizard, its too late to be worried about a few genes here and there. If you look at a native Australian environment, you see eucalyptus trees, koalas, kookaburras, whatever, he said. If I look at it, as a scientist, what Im seeing is multiple copies of the eucalyptus genome, multiple copies of the koala genome, and so on. And these genomes are interacting with each other. Then, all of a sudden, ploomph, you put an additional genome in therethe cane-toad genome. It was never there before, and its interaction with all these other genomes is catastrophic. It takes other genomes out completely. He went on, What people are not seeing is that this is already a genetically modified environment. Invasive species alter the environment by adding entire creatures that dont belong. Genetic engineers, by contrast, just alter a few stretches of DNA here and there.

What were doing is potentially adding maybe ten more genes onto the twenty thousand toad genes that shouldnt be there in the first place, and those ten will sabotage the rest and take them out of the system and so restore balance, Tizard said. The classic thing people say with molecular biology is: Are you playing God? Well, no. We are using our understanding of biological processes to see if we can benefit a system that is in trauma.

Formally known as Rhinella marina, cane toads are a splotchy brown, with thick limbs and bumpy skin. Descriptions inevitably emphasize their size. Rhinella marina is an enormous, warty bufonid (true toad), the U.S.Fish and Wildlife Service notes. The U.S.Geological Survey observes that large individuals sitting on roadways are easily mistaken for boulders. The biggest cane toad ever recorded was fifteen inches long and weighed six poundsas much as a chubby chihuahua. A toad named Big Bette, who lived at the Queensland Museum, in Brisbane, in the nineteen-eighties, was nine and a half inches long and almost as wideabout the size of a dinner plate. The toads will eat almost anything they can fit in their oversized mouths, including mice, dog food, and other cane toads.

Cane toads are native to South America, Central America, and the southernmost tip of Texas. In the mid-eighteen-hundreds, they were brought to the Caribbean. The idea was to enlist the toads in the battle against beetle grubs, which were plaguing the regions cash crop, sugar cane. (Sugar cane, too, is an import; it is native to New Guinea.) From the Caribbean, the toads were shipped to Hawaii. In 1935, a hundred and two toads were loaded onto a steamer in Honolulu, headed for Australia. A hundred and one survived the journey and ended up at a research station in sugar-cane country, in northeast Queensland. Within a year, theyd produced more than 1.5 million eggs. (A female cane toad can produce up to thirty thousand eggs at a go.) The resulting toadlets were intentionally released into the regions rivers and ponds.

Its doubtful that the toads ever did the sugar cane much good. Cane beetles perch too high off the ground for a boulder-size amphibian to reach. This didnt faze the toads. They found plenty else to eat, and continued to produce toadlets by the truckload. From a sliver of the Queensland coast, they pushed north, into the Cape York Peninsula, and south, into New South Wales. Sometime in the nineteen-eighties, they crossed into the Northern Territory. In 2005, they reached a spot known as Middle Point, in the western part of the Territory, not far from the city of Darwin.

Along the way, something curious happened. In the early phase of the invasion, the toads were advancing at the rate of about six miles a year. A few decades later, they were moving at the pace of twelve miles a year. By the time they hit Middle Point, theyd sped up to thirty miles a year. When researchers measured the individuals at the invasion front, they found out why. The toads had significantly longer legs than the toads back in Queensland, and this trait was heritable. The Northern Territory News played the story on its front page, under the headline SUPER TOAD. Accompanying the article was a doctored photo of a cane toad wearing a cape. It has invaded the Territory and now the hated cane toad is evolving, the newspaper gasped. Contra Darwin, it seemed, evolution could be observed in real time.

Read more here:
CRISPR and the Splice to Survive - The New Yorker

Ten years ago, Tony Herbert developed a lump on the right side of his chest. The clump of tissue grew and became painful and he was tested for breast cancer. The result was positive.

I had surgery and chemotherapy and that worked, he said last week. But how had Herbert managed to develop a condition that is so rare in men? Only about 400 cases of male breast cancer are diagnosed every year in the UK compared with around 55,000 in women. A genetic test revealed the answer. Herbert had inherited a pathogenic version of a gene called BRCA2 and this mutation had triggered his condition.

The genetic link was a crucial revelation that not only played a key role in Herberts recovery and survival over the next decade, but which has also helped many women and men fight breast cancer as well as cancers of the ovary and prostate. All three cancers are now known to be linked to mutated versions of BRCA2 a gene whose existence was first revealed 25 years ago this month in a paper in Nature.

Today it is calculated that in the UK alone there are tens of thousands of people who carry pathogenic versions of the gene, which is known as Breast Cancer 2 or BRCA2. It can be inherited from either parent and can spread through lineages with devastating effect. Revealing its existence which was achieved by a research team led by Michael Stratton, who was then working at the Institute of Cancer Research in London has revolutionised the treatment of cancers for a great many individuals.

In the case of Herbert, his inheritance of the mutated gene meant he was susceptible not just to breast cancer but to prostate cancer as well, as doctors realised. I was monitored for prostate cancer and it was found to be at quite an advanced stage. I was given radiotherapy and to be honest I now feel fine, said Herbert who campaigns to raise awareness about breast cancer in men.

The crucial point is that his fight against both the cancers that have touched his life would not have been possible without the discovery of BRCA2. Pinpointing the mutated, pathogenic gene, which is passed through families leaving carriers prone to breast, ovary and prostate cancers, was a medical milestone that involved UK scientists in a desperate race against US companies who wanted to find the gene and patent it for private gain. For good measure Stratton who is now director of the Wellcome Sanger Institute in Cambridgeshire was told by some researchers that he was wasting time when he launched his project. One breast cancer gene, BRCA1, had already been found and it was unlikely there would be a second, I was told, Stratton told the Observer last week.

Nevertheless he and his colleagues persisted and began investigating several large UK and Irish families who were suffering grim numbers of cases of breast and ovary cancers. Was there an unknown mutant gene being passed from one generation of women to the next, one that was leaving them vulnerable to tumours? We looked at hundreds of genetic markers to see if we could find one that was carried only by women who got cancer. That would tell us where the new cancer gene was located.

Genetic markers are small pieces of DNA that are found stretched across the 46 chromosomes that make up the human genome. A first attempt was made using 250 of such markers but failed to produce a result. It was dispiriting, admitted Stratton.

But the team persisted and developed a second set of 300 different markers. I came into the laboratory one day and the results of our study were waiting. They clearly showed a piece of DNA on chromosome 13 that tracked women who went on to develop cancer. We had discovered a new breast cancer gene and, for good measure, we had found out where it lay on the human genome. It was a wonderful feeling, though we realised we still had to pinpoint the gene itself.

The breakthrough also came with a complication. Strattons team had been cooperating with several laboratories in their BRCA2 hunt, including one in the US. This group was backed by the company Myriad Genetics who had found the first breast cancer gene, BRCA1, and who had taken out a patent on it. We did not believe in patenting genes to make profits, however. So we decided to go our own way.

So the race to find BRCA2 began. Initially the prospects for Strattons team looked poor. Myriad Genetics had already found one such gene. It had the experience and also plenty of funds to back its search for another cancer gene. However, an unexpected ally stepped in when the newly opened Sanger Centre (later renamed the Wellcome Sanger Institute) offered to turn its DNA sequencing prowess to explore the region of chromosome 13 where BRCA2 was known to reside.

Sanger scientists provided precise details of the millions of units of DNA on that part of chromosome 13. One morning we went through the most recent data and found a tiny piece of a gene on the chromosome that was missing, a deletion of several DNA units that would have destroyed its function as the gene in which it lay, said Stratton.

Crucially women who inherited that deletion in the family they were studying usually went on to develop breast cancer. That was exactly the sort of thing that we had been looking for, said Stratton. We had landed right on BRCA2. It was an extremely humbling moment.

Over the next two months, the team discovered different abnormalities in this gene in different breast cancer families. It was incontrovertible evidence that this gene was BRCA2, added Stratton. In most families, BRCA2 plays a role in DNA repair and so helps to prevent the triggering of cancers. In families where the gene is damaged, that protection is lost. The discovery was published in Nature and had a dramatically speedy clinical impact. A woman in one of our families was very worried she would get breast cancer and was considering a double mastectomy. We tested her straightaway and found she had not inherited the mutated gene that ran in her family. That meant we were able to tell her she didnt need the operation, added Stratton.

Since then thousands of others have benefited from screening and treatments that have emerged in the wake of BRCA2s discovery, a point stressed by Clare Turnbull, professor of cancer genomics at the Institute of Cancer Research. If a woman gets breast cancer, and we find she is a gene carrier, we can treat her for that condition and also offer to operate to remove her ovaries if shes completed her family because we now know of BRCA2s link to ovarian cancer. Such an operation dramatically reduces the likelihood of women developing ovarian cancer.

In addition, siblings who might have also inherited a pathogenic gene from a mother or father can be tested. For those who test negative, that knowledge relieves anxiety, added Turnbull. For those who test positive, we can offer breast cancer screening while they are still in their 30s. They can also choose to have a mastectomy. In addition, drugs that can counter the effects of the pathogenic version of BRCA2 gene have also been developed, added Turnbull.

In the beginning, breast and ovary cancers formed the main targets of BRCA2 research. However, more recently, it was found that cases of prostate cancer in men were also linked to the gene, as was found in the case of Herbert.

If a man inherits a pathogenic mutation in BRCA2, then, when hes in his early 60s, we now know he will have a 20% chance of developing prostate cancer. That compares with the normal risk for that age of about 3%, said Professor Rosalind Eeles, at the Institute of Cancer Research. In addition, those cancers are a lot more aggressive than standard cases of prostate cancer.

As a result, new European medical guidelines have recently recommended that men over the age of 40 who have a pathogenic BRCA2 mutation should be offered annual screening for prostate cancer. We also hope it will become a UK guideline in the near future, added Eeles.

In addition, Eeles said research showed that prostate cancers in men with BRCA2 mutations are more likely to spread to surrounding tissue but would respond better to surgery to remove tumours as opposed to using radiotherapy alone. All this is a consequence of finding BRCA2 25 years ago, she added.

But testing for BRCA2 can also bring stress, a point made by Dee Gardner. In 2013, after being treated for ovarian cancer, she was urged to have a BRCA2 test. It was positive and I was completely sideswiped. I had three children all young adults then and I now knew each had a 50-50 risk of carrying a gene that could predispose them to cancer.

Gardners children have since had a BRCA2 test of their own. However, there was a further problem. I come from a very large family with lots of cousins and I realised it was up to me to tell them they could also be carrying the gene. It really weighed heavily on me. They needed to be told of the risks, said Gardner, a social worker who lives in Colchester, Essex, with her husband, Howard.

In the end, Gardner wrote to many of her cousins to pass on the troubling news, but it was a strain. It was tough. I knew my letter would cause pain. The trouble is that there is no emotional support for people who are put in this situation, and that lack needs to be addressed.

On the other hand, Gardners BRCA2 status picked up because she developed ovarian cancer led her to undergo investigations for signs of breast cancer. I was found to be in the early stages of a tumour and so elected to have double mastectomy, she added. So yes, finding I had the BRCA2 gene may also have saved my life.

Each of us has around 20,000 genes that direct the manufacture of the proteins from which our bodies are constructed. These genes are bundled together in chromosomes. We get 23 of these chromosomes from our mothers and 23 from our fathers. The genes that lie along these chromosomes are made of deoxyribonucleic acid, DNA, which is made up of twin chains of complex chemicals that coil around each other to form a double helix.

BRCA2 is found on chromosome 13. As we each have two chromosome 13s one inherited from our mother, one from our father if one parent has a mutant BRCA2 gene there will be a 50-50 chance they will pass it on to one of their children.

BRCA2 is involved in repairing damaged DNA and helps to keep cells in a healthy condition. When the gene mutates and becomes pathogenic, the gene no longer helps to keep DNA from becoming damaged and this raises the risk that a cell will become cancerous and grow uncontrollably. BRCA2 is said to be a tumour suppressor gene because it helps to stop cells from growing and dividing too rapidly or in an uncontrolled manner.

BRCA2 is not the only gene whose mutations are linked to increased risks of developing breast cancer. Pathogenic versions of BRCA1 have a similar effect while abnormal versions of another gene known as PALB2 has also been found to increase risk. The prospect of getting breast cancer over an average lifetime for a woman is 12%. However, if they carry mutated versions of BRCA1 or BRCA2 that risk rises to around 70%. An abnormal version of PALB2 raises that risk to around 50%.

In addition to increasing prospects of developing breast cancer, mutant forms of BRCA2 also raise risks of a carrier developing ovary, prostate and pancreatic cancer.

Read more:
How race to track mystery gene with links to three cancers saved millions - The Guardian

If one good thing has come out of 2020, its been the call to action to identifyand actively work to changethe many areas in our society where systemic inequality is impacting peoples ability to live a truly well life. One such area? Inequality in medical research.

Medical research might make you think of petri dishes and mice in a laboratory, but its actually a lot more relevant to your daily life than thatand the numbers are staggering. Nearly 40 percent of Americans belong to a racial or ethnic minority group, yet clinical trials skew heavily white (up to 90 percent), says Vincent Nelson, MD, vice president of medical affairs and interim chief medical officer at the Blue Cross Blue Shield Association.

To be specific, these trials have predominantly focused on white people who are straight and male, which has left out huge chunks of the population such as women, LGBTQ+ people, racial and ethnic minority groups, and people from low-income and/or rural communities, Dr. Nelson says.

Nearly 40 percent of Americans belong to a racial or ethnic minority group, yet clinical trials skew heavily white (up to 90 percent).

This lack of diversity is important because medical treatments may affect people of different groups differently, he explains, so in order to prescribe treatments and medications that will actually help, medical professionals need to have the right information.

Diversifying medical research can help reduce health inequities by answering questions such as why Black women are suffering from higher maternal mortality rates or why stroke is more common among rural communities, Dr. Nelson says. In order to answer these questions, researchers and the medical community need to have access to data that is truly representative of our diverse country.

So how do we fix this data diversity issue? The All of Us Research Program (which is managed by the National Institutes of Health) has been working on it since 2018, when All of Us set out to become the largest and most diverse research program ever. By partnering with volunteers who share their health info, All of Us is creating a massive data hub that gives researchers access to information thats actually reflective of the U.S. population.

By the numbers, the program already has over 360,000 participants (more than 50 percent of whom are people of color, and more than 80 percent are from underrepresented groups) with a goal of reaching at least one million people and tracking health changes over a decade. And, more than 300 studies have already begun using this data to study cancer, heart disease, Alzheimers, mental health, and more.

The All of Us Research Program already has over 360,000 participants, 80 percent of whom are from underrepresented groups.

Heres the catch: The program cant make the monumental impact its hoping to without volunteers, but a historically justified lack of trust between traditionally underserved communities of color and the medical field is a barrier for turning things around.

There is a lack of diversity with African Americans participating in medical research because there is significant mistrust in medical research based on the history of mistreatment, abuse, and deception with clinical programs within the African American community, says Shana Davis, senior program director at Black Womens Health Imperative. In addition, based on various negative and historical experiences, black and brown communities tend to be more skeptical about sharing personal information for fear that it will be exploited in some way.

To mend these bridges, All of Us is taking precautions to keeping all shared data safe and secure, and joining forces with groups like the Black Womens Health Imperative, the National Alliance for Hispanic Health, the Asian Health Coalition, and more to spread the word on the importance of this movementas well as to listen and learn how to be more culturally inclusive.

If we [Black women] are not part of the study, our specific needs will not be assessed nor addressed, Davis says. Black women are disproportionately underrepresented in clinical research. Therefore, so are our needs. Black women must be educated on why participating in clinical research is critical to our long-term health. [] One day, this work will allow clinicians to tailor their day-to-day treatment plans precisely for me based on my genetics.

If you or someone you know signs up, All of Us will ask for info (via surveys, electronic health records) on the factors that influence your health, like your lifestyle, activity levels, family health history, etc. You can also connect your fitness tracker (which you might qualify to receive for free if you dont already have one!) and provide a DNA sample for further study, which could help you learn more about your genetic ancestry. The key is, you only have to share what you personally are comfortable divulging.

If you decide to participate, youll be contributing to research that will help generations to come, Davis says. You could help ensure that people who share the same background, community, or orientation as you are represented and benefit from research. And thats a move toward equality you can definitely feel good about.

Sound like something youd be into? Click here to learn more and sign up to participate. Plus, you might qualify to receive one of 10,000 Fitbit devices participants will be given this year.

Top photo: The All Of Us Research Program

Blue Cross Blue Shield Association is an association of of independent Blue Cross and Blue Shield companies and owner of the Blue Cross and Blue Shield service marks.

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If Youre Not a Straight, White Man, Medical Research Might Be Overlooking YouBut Heres How To Change That - Well+Good

Fiona the hippo is still too young to think about boys.Cincinnati's hippo darling is turning 4 years old this month, now weighing more than 1,500 pounds.The sassy heartthrob has reached a certain level of maturity. But according to Wendy Rice, the head keeper at Cincinnati Zoo's Africa Department, Fiona needs to be at least 5 before she starts thinking about boys. And although she has hippo admirers across the country, Rice said Fiona is still a few years away from picking up a boyfriend.Of those hippo admirers, one such hippo is still laying it on thick. Timothy, a 3-year-old hippo from San Antonio, still pens Fiona weekly love notes on Facebook.But what ultimately will decide Fiona's potential future romance? It may not be cute love notes."The genetics are basically what's going to matter most," Rice said. "If and when Fiona were to get a breeding recommendation someday, it would be based entirely on who was genetically the best match for her that may or may not be Timothy."Fiona's genes are valuable in the world of Nile hippopotamuses. And eventually, Rice said the goal is to have Fiona breed if she can. But we're talking way down the road when Fiona is at least 5 years old.What happens then?"We obviously don't want her going anywhere," Rice said. "We love her. She's our baby and this hometown loves her. We're fairly certain people would riot if we said Fiona was leaving. We're hopeful that if she gets a breeding recommendation, that a male would be brought here for her so she wouldn't have to leave Cincinnati."Fiona the hippo was thrust into the spotlight due to her remarkable survival story.Born six weeks premature at the Cincinnati Zoo on Jan. 24, 2017, Fiona weighed only 29 pounds at birth 25 pounds less than the lowest recorded birth weight for her species. She survived because of her animal care team's tireless efforts to save her and has inspired many to care about her species and wildlife.Now weighing a healthy weight for a hippo her age (more than 1,500 pounds), Fiona is remarkable for being unremarkable, just a 3-year-old hippo who almost didn't make it.

Fiona the hippo is still too young to think about boys.

Cincinnati's hippo darling is turning 4 years old this month, now weighing more than 1,500 pounds.

The sassy heartthrob has reached a certain level of maturity. But according to Wendy Rice, the head keeper at Cincinnati Zoo's Africa Department, Fiona needs to be at least 5 before she starts thinking about boys. And although she has hippo admirers across the country, Rice said Fiona is still a few years away from picking up a boyfriend.

Of those hippo admirers, one such hippo is still laying it on thick. Timothy, a 3-year-old hippo from San Antonio, still pens Fiona weekly love notes on Facebook.

But what ultimately will decide Fiona's potential future romance? It may not be cute love notes.

"The genetics are basically what's going to matter most," Rice said. "If and when Fiona were to get a breeding recommendation someday, it would be based entirely on who was genetically the best match for her that may or may not be Timothy."

Fiona's genes are valuable in the world of Nile hippopotamuses. And eventually, Rice said the goal is to have Fiona breed if she can. But we're talking way down the road when Fiona is at least 5 years old.

What happens then?

"We obviously don't want her going anywhere," Rice said. "We love her. She's our baby and this hometown loves her. We're fairly certain people would riot if we said Fiona was leaving. We're hopeful that if she gets a breeding recommendation, that a male would be brought here for her so she wouldn't have to leave Cincinnati."

Fiona the hippo was thrust into the spotlight due to her remarkable survival story.

Born six weeks premature at the Cincinnati Zoo on Jan. 24, 2017, Fiona weighed only 29 pounds at birth 25 pounds less than the lowest recorded birth weight for her species. She survived because of her animal care team's tireless efforts to save her and has inspired many to care about her species and wildlife.

Now weighing a healthy weight for a hippo her age (more than 1,500 pounds), Fiona is remarkable for being unremarkable, just a 3-year-old hippo who almost didn't make it.

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From preemie to heartthrob: 4 minutes of hippo footage to celebrate Fionas 4th birthday - WLWT Cincinnati

How has the pandemic affected cancer research?

The outbreak of the SARS-CoV2 coronavirus that began slowly in Wuhan, China a year ago, before quickly enveloping the world has had widespread, devastating effects on lives, livelihoods and entire economies. Although much focus has rightly centered on the impressive scientific research directly tackling the pandemic, including work tracking the virus, trialing treatments for Covid-19 and developing vaccines, the impact on many other areas of medical research have been less documented and may take several years to fully come to terms with.

Cancer, for example, is the second leading cause of death in the U.S., with the American Cancer Society projecting over 600,000 cancer deaths in 2020. Despite a raging Covid-19 pandemic, this is roughly a quarter of a million people more than died of Covid-19 last year in the U.S.

A survey of 239 cancer research scientists in the U.K. in November of last year found that the researchers estimated that their work would be set back by an average of 6 months. The same researchers also estimated that major advances would be delayed almost 18 months due to numerous effects of the pandemic including lab shutdowns, reductions in funding and barriers to enrolling patients on clinical trials.

In the U.S., restrictions and setbacks to research vary widely depending on location and nature of the work. Cancer research is also a highly diverse topic with research not only developing new treatments and testing them in clinical trials, but also studies looking at the health of people who have survived cancer and racial and social disparities which affect care and outcomes of people with cancer.

Forbes Health interviewed several cancer researchers in the U.S. about their experiences during the pandemic so far, asking how the pandemic has affected them and their work.

Dr. Wayne Lawrence,DrPH, MPH, Cancer Prevention Fellow, Division of Cancer Epidemiology and Genetics, National Cancer Institute, MD.

Dr. Wayne Lawrence (left), DrPH, MPH, Cancer Prevention Fellow, Division of Cancer Epidemiology and [+] Genetics, National Cancer Institute

My research is in the field of cancer epidemiology with an emphasis on minority and economically disadvantaged populations. My work lies at the intersection of biological susceptibility and inequities in health care delivery, said Lawrence. I am fortunate that I can work from home, as my research consists of analyzing large population-based data at a computer rather than working in a lab. However, the constant worry of family members becoming infected with Covid-19 pulls my focus away from my research often. This is intensified as I have family members that are essential workers in New York City, Lawrence added.

Lawrences research aims to develop new approaches to cancer prevention and improvement of long-term cancer survival in minority and economically disadvantaged people, an issue brought into sharper focus during the pandemic as it is now well-known that these people also have the highest risk of contracting, and dying from, Covid-19.

What is further challenging during this period is societys grapple with structural racism in the U.S. The ongoing Covid-19 pandemic has made focusing on my work difficult with the constant concerns of infection among family and friends. Watching the country struggle to grasp how deeply rooted racism is in society has compounded this difficulty, said Lawrence.

Academic researchers already experience high levels of burnout, stress and mental health difficulties compared to the general population and many are finding that the additional strain of the pandemic is compounding their abilities to run their research programs.

I am still grappling with the extent to which the ongoing pandemic is impacting my daily life. At this point, I will be more productive when my family and friends have received the Covid-19 vaccine. The constant worry of loved ones becoming infected and dying from Covid-19, especially those living in areas with alarming increases in cases, makes it difficult to concentrate on projects, said Lawrence.

OliviaGeneus, Ph.D. Candidate in Nanotechnologyat State University of New York, Buffalo, NY.

Olivia Geneus, Ph.D. Candidate at State University of New York, Buffalo.

Geneus is working on a nanotechnology solution to deliver targeted therapies directly to a type of brain tumor called a glioblastoma multiforme (GBM), which has a very poor survival rate currently. Her campus at State University of New York in Buffalo was temporarily shut down during the first wave of the pandemic.

With the abrupt campus lockdown including our laboratories, experiments that were conducted prior had to be immediately terminated without any plan as to how to proceed forward. Accessing our instrument centers to test our samples also became difficult due to the campus-wide social distancing guidelines. And on the front end, laboratory materials and chemicals now take much longer to ship when ordered, said Geneus.

Geneus like many graduate students, helps to mentor and train other students earlier on in their careers, yet another aspect of research which was been disrupted.

During the pandemic, it is quite apparent that virtual learning has decreased feedback and engagement from my students. I never want my students to feel isolated from their learning environment and experience. Additionally, as a graduate research mentor, my undergraduate mentees are unable to receive the laboratory and research experience that they would have normally been provided, said Geneus.

However, an unexpected positive for Geneus was that the enforced time away from her lab gave her a chance to finish off some previous work.

It is quite difficult to accurately estimate how much the Covid-19 pandemic has delayed my research progress. Obtaining accurate data from laboratory experiments that are conducted are the biggest factor driving such setbacks. However, what is in my control is the time spent on completing my first-author research paper for publication, said Geneus.

Dr. ChristopherSweeney, MBBS, medical oncologist at Dana-Farber Cancer Institute in Boston, MA.

Dr. Christopher Sweeney, medical oncologist at Dana-Farber Cancer Institute:

Dr. Sweeney is a practicing oncologist and professor at Harvard Medical school. His research mainly focuses on international phase III trials for men with prostate cancer. In April 2020, the international team had just launched a new clinical trial to test out a new therapy for a particular type of prostate cancer and had to move quickly to modify the trial so that patients could still participate.

The global team convened and modified the trial in accordance with the relevant government regulations to allow tele-health visits and delivery of drugs to patients homes and so minimize in-person visits to a health care facility while maintaining the ability to safely monitor patients and deliver the care needed. We also adjudicated that some visits were still essential and ensured isolation protocols were in place so patients could still get the treatments designed to manage their advanced prostate cancer. It took some quick yet judicious thinking and adjustments and in the end has proven to be a successful model and allowed the safe continuation of research that has the potential to decrease the chancemen will die of prostate cancer, said Sweeney.

Dr. Erica T.Warner, ScD MPH, Assistant Professor of Medicine, Massachusetts General Hospital and Harvard Medical School in Boston, MA.

Erica T. Warner, ScD MPH, Assistant Professor of Medicine, Massachusetts General Hospital and [+] Harvard Medical School

Dr. Warners research focuses on breast cancer risk factors and racial disparities in breast cancer treatment, diagnosis and survivorship, as well as ways to improve patient care in these areas.

I had several projects, including a American Cancer Society and Pfizer funded study on breast cancer survivorship in Black women, that were ready to launch right when all observational research was halted in March. Those projects have been significantly delayed by the pandemic because of the stoppage, and then the time it took the redesign them to recruit and enroll participants and conduct the study remotely, said Warner.

Warner estimates that her groups projects have been delayed approximately a year, so far, by the pandemic. However, like many researchers, Warner has also created projects to address problems caused by, or exacerbated by the pandemic.

We conducted a national survey in partnership with several breast cancer advocacy organizations to understand from the patient perspective how the pandemic has affected breast cancer diagnosis and treatment. Im also working with several collaborators to use large institutional databases to see how screening rates have declined as a result of the pandemic, and to better understand how to bring women back to care, said Warner.

Dr. Elizabeth Wayne, PhD, biomedical engineer at Carnegie Mellon University in Pittsburgh, PA.

Dr Elizabeth Wayne, biomedical engineer at Carnegie Mellon University.

Dr. Wayne recently started her own research group and focuses on studying immune cell interactions with biomaterials for the purpose of drug delivery, diagnostics, and drug discovery.

My work is heavily experimental and as such the reductions in density [of people] requirements have made it challenging to schedule and conduct laboratory experiments. Moreover, I am an early career professorI started my position in August 2019my lab is so young we are still in a training phase. Being in close proximity to someone outside of your household for prolonged periods of time is the one thing you arent supposed to do and yet it is exactly the thing that I need, said Wayne.

Wayne, like many other researchers also has academic teaching and mentoring duties, which have been severely affected by the ongoing pandemic. The need to pivot largely to virtual learning solutions has created many challenges, especially for students studying sciences as many programs require hands-on laboratory-based experience.

Postdocs, graduate students have felt like they were in a holding pattern and this has uncovered or exacerbatedphysical, social and mental health challenges.I also enjoy mentoring undergraduates, but it has been very challenging providing meaningful research experience. Myself along with other colleagues have pivoted to creating virtual lab experiences and I believe this is something that could have great utility even after the pandemic. Nonetheless, I absolutely worry about how this will affect students abilityto demonstrate their capacity for research, something that is valued if not required for admission into STEM PhD programs, said Wayne.

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How Has The Covid-19 Pandemic Impacted Cancer Research? - TechnoCodex

Newswise LEXINGTON, Ky. (Jan. 5, 2021)Understanding the mechanisms behind successful plant reproduction can lead to more reliable crop production and higher yields. In a recent study, an international group of scientists led by researchers from the University of KentuckyCollege of Agriculture, Food and Environmentidentified signaling and motor proteins that help guide the male nuclei toward its female counterparts to allow reproduction to occur in flowering plants.

Flowering plants use a unique method called double fertilization in which two male nuclei and two female nuclei containing the plants genetic material must meet to produce a seed. This study sheds new light on how the connection between nuclei occurs.

We knew plants controlled the migration of the male nucleus differently than animals, but how this dynamic movement occurred in plants remained unclear until now, said Tomokazu Kawashima, assistant professor in the UKDepartment of Plant and Soil Scienceswho led the project.

In the recent study, which was published in the Proceedings of the National Academies of Sciences, the scientists also found plant reproductive cells use a unique signaling pathway which differs from signaling systems in other parts of the plant.

This means that the knowledge we have accumulated from studies in leaves and stems do not apply to plant sexual reproduction, including seed development, Kawashima said. Further detailed investigation directly into these sexual cells are critical to helping scientists understand how the reproductive process has evolved.

Kawashima specializes in land plant evolution and says this finding will not only help him better understand how flowering plants control double fertilization to produce seeds but may help scientists determine how to efficiently produce crops, particularly in unstable climate conditions.

Higher or lower temperatures can negatively affect plant fertilization, including the migration of the male nucleus, Kawashima said. This finding will give scientists new ideas and strategies to maintain or improve crop production.

Kawashima was joined on the project by UK doctoral students Mohammad Foteh Ali and Fatema Umma. Samuel Hacker, a recent graduate of the colleges agricultural and medical biotechnology program, also contributed to the project.

We were really excited about our achievement, and even during this pandemic, we kept going to get results for this publication, Kawashima said. Mohammad and Fatema were really impressive and completed the work without any delay! Moreover, I am grateful to have had a talented ABT undergraduate student, Sam Hacker, in my lab for this project. He understands how to process microscopy images to extract quantitative data for comparative analyses.

Additional contributors to the paper include scientists from Wuhan University in China and Yokohama City University in Japan.

Research reported in this publication was supported by theNational Science FoundationDivision of Integrative Organismal Systemsunder Award Number1928836.The opinions, findings, and conclusions or recommendations expressed are those of the author(s) and do not necessarily reflect the views of the National Science Foundation.

The paper is available online athttps://www.pnas.org/content/early/2020/12/01/2015550117.

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Plant Reproduction Finding by University of Kentucky Scientists Could Lead to More Reliable Crop Production - Newswise

The center has led the Mexican wolf cross-fostering program that began in 2014. Founded in 1971, it sits on 63 isolated, wooded acres, designed to match the cold, silent and humanless habitat where Mexican wolves live.

Through cross-fostering, 8- to 14-day-old pups born in captivity are placed in a den of similar-aged wild pups in remote areas of the Southwest.

Being able to take puppies from facilities like the Endangered Wolf Center and sneaking them into wild litters is a great way for us to be able to get new genetics out into the wild to help keep that wild population healthier, said Regina Mossotti, director of animal care and conservation at the Endangered Wolf Center.

Mexican wolves breed in April and May, leaving a narrow window for cross-fostering.

To successfully cross-foster a wolf pup, officials must identify a wild wolf that has given birth about the same time that a female wolf in captivity at the center gives birth.

When that does happen, the clock starts ticking.

We have to be able to find a flight, the weather has to work and we have to have enough people to do it, Mossotti said. So all these things, these logistics have to come together to make it happen.

Once the team from the Endangered Wolf Center arrives in Arizona, Game & Fish employees join them on a hike to a specific wolf den, often hidden in the rugged terrain along the Arizona-New Mexico state line.

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Diversifying the pack: Cross fostering helps Mexican wolf population boost genetic mix - Arizona Daily Star

A well attended online Campus course staged by the SIG Reproductive Genetics heard that the expansion of sequencing analysis is poised to push forward the development of cost-effective preconception tests able to identify several underlying genetic causes of infertility

The everyday implications of preconceptional medicine have so far been largely evident in lifestyle advice conducive to successful pregnancy, but a well attended online Campus meeting staged in December suggests that genomic medicine has an increasingly important role to play. Sessions at the meeting not only covered the much debated subject of genetic risk assessment by expanded carrier screening, but explored the application of genome-wide sequencing in recurrent miscarriage, in predicting ART outcomes from parental genome analysis, and even in explaining the different responses to ovarian stimulation with gonadotrophins. Such subjects, especially expanded carrier screening, are not without their ethical problems, notably in the disclosure (or not) of secondary findings, so it was also appropriate at this meeting to hear a preview of ESHREs forthcoming recommendations on expanded carrier screening in ART.

In his opening lecture Stphane Viville, a former coordinator of ESHREs SIG Reproductive Genetics, said that known genetic and chromosomal factors account for around 20% of all infertility cases, with three additional (and relatively unknown) phenotypes now moving into active research: POI, oocyte maturation defect, and preimplantation embryonic lethality, all of which were covered at this meeting. Viville added that so far at least 21 genes have been implicated in POI and advised that genetics is now getting more and more into IVF labs and no longer confined to chromosomal aberrations or microdeletions on the Y chromosome.

Much of the content of this Campus course has been explored in detail in a recent Human Reproduction Update review, whose first author, Antonio Capalbo, is deputy of ESHREs SIG Reproductive Genetics and an organiser of this course.(1) In the review, as was repeatedly implied at this meeting, Capalbo et al note that the expansion of sequencing analysis may enable the development of cost-effective preconception tests capable of identifying underlying genetic causes of infertility, which until now have largely been defined as idiopathic.

One such step in this move towards a more positive and personalised approach to preconceptional medicine is in genetic risk assessment by expanded carrier screening, which occupied a large section of this meeting. James Goldberg, prominent in the development of ECS, said its availability now steps beyond the disparities and restrictions of ethnicity-specific screening and aims to inform couples about their risk of having children with autosomal recessive and X-linked recessive disorders and thereby to support informed decision making. Nevertheless, two of the current guidance statements on ECS cited by Goldberg both from the USA are largely based on ethnicity screening with an emphasis on cystic fibrosis and spinal muscular dystrophy. ECS, said Goldberg, represents a more equitable approach to identifying risk. Such risk assessment in both the general population and IVF couples - will allow identification of those who carry recessive mutations, and thereby provide increased reproductive autonomy to couples deemed at risk and where PGT is available for embryo selection.

However, when a publicly provided ECS programme was set up in Amsterdam offering a test panel of 50 genes (at a cost of 650 euro per test) and following the guidance of the European Society of Human Genetics, there was a relatively quiet response (20%) from the general risk population, and higher (80%) from the high risk population.(2) Nevertheless, assessment of the programme, began in 2016, appeared to raise more questions than answers, and no clear resolution of how such a programme might be best provided. Capalbo and his fellow Update reviewers concluded that ECS represents one of the most effective and advanced applications of preconception genomic medicine worldwide today and is expected to grow in application in coming years.

The preview of recommendations from ESHREs Ethics Committee was specifically about ECS ahead of ART (and not just involving gamete donors). Thus, asked Dutch bioethicist Guido de Wert, would the offer of ECS to all such applicants be proportionate, and if so, for what kinds of disorders and under what conditions? Applying the three ethicists principles of proportionality, respect for autonomy and justice, De Wert firstly noted that any possible benefits should clearly outweigh any possible harms, that ECS should still be embedded in a research framework, and that a couples access to ECS should only be on condition that they take preventive measures and apply for PGT, donor gametes, or, maybe, prenatal diagnosis.

Even the outcome of fertility treatments may well be affected by genetic mutations, and such extreme outcomes as oocyte maturation failure and embryonic developmental arrest are now investigated as a genetic cause of infertility. Indeed, Semra Kahraman from theIstanbul Memorial Hospital reported that variants in more than 2000 genes are now predicted to be involved in various infertility pathways. She described her own study in which 22 IVF patients whose repeated failure was attributed to oocyte maturation failure and embryo development arrest and who were investigated using whole exome sequencing panels. Family history analysis had also identified infertility and early menopause in the family of nine of the subjects. The analysis identified genomic variants in eight of the 22 subjects, including four genes known to be lethal at the embryonic stage.

With ovarian ageing identified as one of todays most frequent causes of infertility, John Berry, an MRC investigator from Cambridge, reported in a keynote lecture that ten years ago population studies had identified four common genetic variants associated with menopause. Today, he added, there are now more than 300 loci identified, which explain around 10% of the heritable component. Too few to be clinically useful? he asked. Again, there appeared more questions than answers, notably if POI can be explained solely by monogenic alleles and if menopausal age can indeed be predicted by genetics.

The conclusions from this meeting, as well as the increasing number of genes and variants identified, suggest that genomic assessment ahead of conception may have real clinical benefits at both the individual (in identifying genetic risks in the male and female partner) and the couple level (in allowing a specific reproductive prognosis). Information at this early stage may thus lay the basis for personalised interventions, and certainly make at-risk couples better informed of their reproductive choices.

1. Capalbo A, Poli M, Riera-Escamilla A, et al. Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual genomic data, Hum Reprod Update 2020; doi:10.1093/humupd/dmaa044

2. Henneman L, Borry P, Chokoshvili D, et al. Responsible implementation of expanded carrier screening. Eur J Hum Genet 2016; 24: e1-e12. doi:10.1038/ejhg.2015.27

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The expanding role of genomics in preconceptional 'personalised' medicine - ESHRE

21 December 2020

Session three of the Progress Educational Trust (PET) annual conference explored the genetic and genomic links to susceptibility to severe COVID-19. Sarah Norcross, director at PET, opened the session with the unfortunate news that one of the speakers Dr Kri Stefnsson was unable to participate in the session due to illness.

The session was chaired by Dr Roger Highfield, science director at the Science Museum Group mild-mannered and a clear speaker, he chaired the session with ease. Dr Highfield introduced the first speaker Dr Sharon Moalem a scientist and physician who specialises in genetics. Dr Moalem is a bestselling author, with titles including: 'How Sex Works', 'Inheritance: How Our Genes Change Our Lives and Our Lives Change Our Genes', and 'The Better Half: On the Genetic Superiority of Women' (see BioNews 1050).

Dr Moalem focused his talk on the law of homogameity, and whether COVID-19 illustrates the genetic/genomic resiliency of women. He began by briefing the audience on the basics of mammalian genetics, how we have 46 chromosomes, one pair of which is sex chromosomes, containing either XX for a female, termed homogametic, or XY for a male, termed heterogametic. A system has arisen in females, where in each cell one X chromosomes is 'turned off', called X-inactivation or silencing. However, it has now been discovered that X-inactivation is not complete, and that about 25 percent of the second X chromosome is still active. Dr Moalem explained that this allows females to have more 'genetic horse power' within each of her cells.

X-linked conditions, such as fragile X, red-green colour blindness and Duchene muscular dystrophy, are more common in males, as men do not have another X chromosome. Females do not simply have a 'back up X', but in some cases their non-faulty gene produces and shares the required protein, essentially rescuing the cells containing the faulty gene, which would have died. In other cases, cells with such a mutation do not survive, but cell lines with the healthy X proliferate to compensate. This leads to tissues with an uneven distribution of active Xs, called X-skewing.

Moving onto COVID-19, why is the mortality rate for males higher than that for females? Dr Moalem proposed the law of homogameity, which predicts that the homogametic sex has a survival advantage across the life course. Females have a greater genetic diversity due to having an extra X-chromosome, which equates to 1000 more genes. The X chromosome contains many immune-related genes eg, TLR7 which is used by certain cells in the body to detect for single-stranded RNA viruses, like SARS-CoV-2, the virus which leads to COVID-19. As females have two variations of TLR7 they have two different immune cell populations to help detect the virus. However, there is a cost to homogameity increased autoimmunity, with 'long COVID' proving to be four times more common in women.

In the USA there is currently no requirement for drug approval from the FDA to use both male and female cells. Scientists can use just one sex, yet females' cells work in a corporative way. Dr Moalem believes there should be a completely separate drug approval process as many drugs behave differently in men and women.

Dr Highfield returned to introduce the second speaker Dr Qian Zhang a research associate at the St Giles Laboratory of Human Genetics of Infectious Diseases, at Rockefeller University in New York City. Dr Zhang's research specialises in inborn errors of immunity (IEIs) inherited disorders that impair normal immune development and function.

Dr Zhang focused her talk on type I interferon immunity in patients with life-threatening COVID-19 and began by explaining how early on in the pandemic it became clear that people infected with SARS-CoV-2 responded differently. Most were asymptomatic and developed either no or very mild clinical symptoms. A small proportion of patients developed life-threatening disease. This phenomenon is seen in all infectious diseases from bacteria, fungi and viruses.

Dr Zhang and her research team studied whether the same genetic mutations already known to be associated with life-threatening influenza infections also increase the risk of life-threatening COVID-19 pneumonia. There are three genes, TLR3, IRF7 and IRF9, in the type I interferon pathway that are mutated in people who develop life-threatening influenza. In addition, ten further genes, IFNAR1, IFNAR2, STAT1, STAT2, IRF3, UNC93B, TRIF, NEMO, TRAF3 and TBK1, are reported to affect severity of other viral infections.

Type I interferon is a cytokine and has 17 different subtypes, which lead to the stimulation of several hundred interferon-stimulated genes that have an antiviral function. Hence, if this pathway is disrupted by a genetic mutation, viruses are able to gain a foothold more easily.

Dr Zhang's team sequenced the whole of the genome of over 600 severe COVID-19 patients to determine whether they had mutations in any of these 13 genes and discovered over 118 variants, of which, 24 resulted in loss of function.

Four patients with autosomal recessive mutations causing a complete loss of function in IRF7 and IFNAR1had never been hospitalised before contracting COVID-19, much to Dr Zhang's surprise. IRF7 is a transcription factor that amplifies the antiviral signal of type I interferon, and IFNAR1 is one of two proteins that make the receptor for type I interferons. Patients with these mutations are unable to mount an interferon response to COVID-19 infection.

Dr Zhang reassuringly explained that these mutations are rare, less than one in 1000 in the population, as such they cannot explain why there are so many people dying of COVID-19. This led Dr Zhang to the second part of her research: studying whether auto-antibodies against type I interferons lead to the same phenotype as these rare mutations.

Over ten percent of patients with life-threatening COVID-19 make auto-antibodies against two of the type I interferons. These neutralising auto-antibodies can entirely block the protective effect of type I interferons, which may be the cause of severe COVID-19.

Surprisingly, 95 percent of patients with these auto-antibodies were male and only six were female. One of these female patients had incontinentia pigmenti (IP), which is caused by a NEMO mutation on the X chromosome, leading to skewed X-inactivation a perfect example of the genetic diseases Dr Moalem was discussing earlier in the session. Even though such patients have two X chromosomes, most of the tissues in their bodies express just one X chromosome, and so these females are more similar to males in terms of susceptibility.

Combining both parts of her research, Dr Zhang's team discovered that selected patients with TLR3 and IRF7 mutations could simply be treated with type I interferon. However, this treatment did not work for patients with IFNAR1 mutations because the receptor is absent, but treatment with wildtype IFNAR1 was successful. Unfortunately, neither treatment worked for patients with auto-antibodies.

In her opinion COVID-19 could be considered an X-linked disease, even though the candidate on the X-chromosome has yet to be discovered and furthermore, type I interferon immunity is essential to control COVID-19 infection.

Dr Highfield returned to update the audience on Dr Stefnsson's research, investigating the genetic code of each COVID-19 infection in Iceland, giving an insight into the origins, and how the infection was caught, spread and mutated. Surprisingly, a large number of cases came from the UK. Similar research in the UK has detected 1356 independent introductions of the virus, mostly due to inbound international travel a third came from Spain, over a quarter from France and 14 percent from Italy.

The session provoked interesting discussions within the Q&As, with the first asking Dr Moalem whether females are less severely affected by other viruses, which he concluded as true, particularly for influenza. But even for HIV-1, women are much better at clearing the virus and have a much lower viral load.

With a personal interest, I took the opportunity to ask Dr Zhang whether patients with type I interferon IEIs were more susceptible to severe COVID-19, as such a disease affects members of my own family. Dr Zhang confirmed that such patients are more likely to suffer with severe COVID-19 and had now tested 20 IP patients discovering at least a quarter had high levels of autoantibodies to type I interferons. She warned that these females should be very cautious and shield as much as possible, as any patient with auto-antibodies is very difficult to treat. Reassuringly, patients with certain genetic mutations that do not have high levels of autoantibodies to type I interferon can simply be treated early with interferon injections.

I will leave with a final comment from Dr Moalem: 'Men are more biologically fragile when compared to women.' Whoever said that women were the weaker sex?

PET would like to thank the sponsor of this session, the Anne McLaren Memorial Trust Fund, and the other sponsors of its conference - the Edwards and Steptoe Research Trust Fund, ESHRE, Wellcome, the European Sperm Bank, Ferring Pharmaceuticals, the London Women's Clinic, Merck, Theramex, Vitrolife and the Institute of Medical Ethics.

Originally posted here:
Correlation and Causation: What Can Genetics and Genomics Tell Us about COVID-19? - BioNews