Category Archives: Human Genetics

It involves understanding human behaviour, addressing inequalities, optimising our communications. It brings in public health and how that interacts with animal health, and then there is the economics lurking behind that. In parallel, there is a whole gamut of aspects to do with education.

Whitelaw says that Scotland, and specifically the University of Edinburgh, is ideally positioned to take advantage of the One Health agenda because of its expertise in human and animal health and in data.

He adds: Edinburgh has a joint medical and vet medical college, a leading science and engineering college and the wonderful humanities, arts and social sciences in the third college. It is not individually that we can address One Health, it is by bringing all these together, by intertwining roles and ideas, that we will achieve success, or do One Health data better.

But how has the One Health approach of collaboration and data sharing between scientists, health practitioners and the wider academic community helped shape our efforts to understand and tackle the coronavirus pandemic? And, building on the achievements already made, how better prepared are we for another global virus outbreak?

Dr Sam Lycett, a genetics expert at the University of Edinburgh, uses phylodynamics to study the spread of viruses. She says: This technique makes use of the now large collections of virus genome sequence data and the fact that these viruses accumulate mutations over time.

She uses this information to look at who infected whom either at an individual level or group level, such as a city or region. Going deeper than this we can also estimate predictive factors for why we see the transmission patterns. Is it just distance, known host movement patterns or a change in environmental conditions?

During the coronavirus pandemic, the amount of available data has been huge, Lycett says. In this current pandemic, there has been a massive global and UK-specific Sars-CoV-2 sequencing effort for people there are almost four million genomes now, with almost one million just in the UK and close to 100,000 just for Scotland.

This is a really good surveillance sample roughly, we are sequencing one in five or six positive cases. We use this sequence data to calculate how individual lineages and mutations are being generated, imported, and growing and declining, in Scotland.

Dr Kenny Baillie, a senior clinical research fellow at the Roslin Institute, says viral sequence data is now converging with clinical and biological data from humans and being used to find treatments for Covid-19.

The Roslin Institute is leading the most powerful study of human genetics of Covid more powerful in terms of discovery power than all of the other genetics studies in the world put together, says Baillie. Most recently, we have reported25 genetic associations with critical illness in Covid, many of which lead us to promising therapeutic avenues.

Discoveries reported after only five months of Covid being in the UK included two genes which have led directly to treatments being included in large-scale clinical trials.

In the future, Baillie wants to be able to look at treatments even more quickly than the five months which was achieved in the pandemic. We can move towards doing this in real time there is a convergence between animal and human science which means the same statistical techniques are used for both livestock and human genetics. With computing power and the human resource that is being deployed, we can move towards close to real-time host and viral genetic studies.

The study of zoonotic pathogens those that can move from animal to a human is at the heart of discovering the way coronavirus spreads, both locally and globally.

Virologist Christine Tait-Burkard, a research fellow at the Roslin Institute, has been working on coronaviruses for more than 12 years. She says: Coronaviruses have an inherent potential for cross-species transmission as one of the properties they have is that they can swap large parts of their genome relatively easily, and that is a bit reminiscent of the most known zoonotic virus, the influenza virus.

International data accumulation and sharing has helped build understanding of coronavirus. Tait-Burkard says this includes looking at treatments for other diseases, such as cardiac conditions and cancer, which can help develop help with coronavirus we can harness that and also tackle coronavirus.

And she says the drugs needed should be taken as early as possible, not when a patient has had to be hospitalised. We really need a pill that people can take at home when they get the first symptoms.

Tait-Burkards work with international colleagues includes looking at the livestock, the wildlife and the human coronaviruses and finding the commonalities, taking all the data together so that we can get drugs that are there for any future pandemic.

We need to leverage lessons from Covid, says Professor Ross Fitzgerald, personal chair of molecular bacteriology at the University of Edinburgh. His work focuses on antimicrobial resistance (AMR), described as a slow pandemic and a huge public health threat, with estimates suggesting hundreds of thousands of deaths occur worldwide due to infections caused by resistant bacteria. This is a major health crisis that has taken a back seat since the pandemic, he says, warning that effective antibiotics could run out.

A lot of the work to find a solution to AMR surrounds data, says Fitzgerald faster diagnostics, more sequence information and real time surveillance of humans, animals and the environment on a global scale.

And he adds that the work on coronavirus can now help tackle AMR. We need to unite academia, industry, government and policy-makers so we are all working together, communicating the data effectively to address the impact of AMR.

Fitzgerald is concerned there is not sufficient volume of data to address AMR at the moment. We need more data, but to get the value from it we need to have really good descriptive information it is high-quality data that we need.

And he is a strong advocate of developing artificial intelligence and machine learning to harness that data. We know that it will allow us to track the emergence and spread of resistance and pathogens.

Professor Lisa Boden, chair of population medicine and veterinary public health policy at the University of Edinburgh, says that from a One Health perspective, there have been issues surrounding the way coronavirus has been dealt with.

She says: Covid-19 has really made visible different types of vulnerabilities in our institutions, our governance and our legal structures, and those are really due to entrenched health, social, racial, political and economic inequalities at different scales, at a local and international level.

Boden says there has been a lack of complete data particular for people living on the edges of society and those people who are living in communities which might be remote, rural and geographically isolated.

To change this, she advocates a non-linear approach which looks at both the causes of inequality as well as at a disease itself, using multi-sectoral datasets.

But with the experience of a vast amount of data collection, use and sharing surrounding the pandemic, some believe future outbreaks could look a lot different.

Lycett says: We will be able to predict and quantify the risk of having a pandemic. Whether we will be able to predict the exact time and place of the event itself is very variable. But certainly to predict risky areas and risky situations, it is possible.

Tait-Burkard agrees, saying: It is probably not all that easy to predict when the transmission is going to happen but what we can learn from this pandemic is to be better prepared. And we now have the facilities in place to do that preparedness, we will have to make sure there is money available to maintain these facilities.

This article first appeared in The Scotsmans Life Sciences 2021 supplement. A digital version can be found here.

The rest is here:
How experts have deployed data to tackle Covid-19 and plan for future pandemics - The Scotsman

**Warning Spoilers ahead**

Sacrifice the mince pies this Christmas for a slice of Amazons The Wheel of Time. Up ahead, we explore the big bad enemies, the Trollocs, and where the creatures came from.

The Wheel of Time follows Rosamund Pikes wizard, Moiraine, who journeys across the lands in order to pinpoint who the reincarnation of the Dragon is and oversee their destiny to navigate the fate of the world.

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Trollocs are a species of Shadowspawn (creatures formed by the Dark One) created during the Age of Legends.

These creatures are known to have made up a large portion of the Dark Ones army and are a cross between humans and animal stock similar to Orcs.

Trollocs are able to communicate with the local tongue, however, their primitive side decreases their intelligence across the board, and therefore, they require supervision on the battlefield.

Similar to J. R. R. Tolkiens Uruk Hai, the antagonist during the War of the Shadow in The Wheel of Time, the Dark One, was hellbent on creating super soldiers for his army.

Using the skills of the Forsaken Aginor, human genetics were mixed with intelligent and sturdy animals, such as boars and eagles, to produce an advanced breed.

While early creations of the Trollocs were looked on as a failed experiment, the offspring of this new species eventually resulted in the birth of more sentient Trollocs known as the Myrddraal.

The Trollocs were introduced during the three-episode premiere of The Wheel of Time when Moiraine and Lan were ambushed.

Using a combination of Moiraines magical abilities and Lans swordsmanship to mitigate the Trollocs ambush, a telekinetic lightning storm was then produced.

The Trollocs arrival at the Two Rivers foreshadows a much larger threat looming and fans will have to wait and see the full force of the Dark One later on in season 1.

In other news, Release date for JoJos Bizarre Adventure Stone Ocean explained

See the original post here:
What are the Trollocs in The Wheel of Time? Creatures origin explored - HITC

As I write this article, my children are stealing cars and robbing houses, I suppose. I am an Indigenous father so, doesnt that tell you everything you need to know about me as a parent, and about my childrens capacity to understand right from wrong?

I know you sense the sarcasm in this. Well, a great, great majority of Australians would. But there is a certain type of person I am implicating here. The type who have an ignorance so deeply ingrained, that it is a wonder they havent wandered off into the dark recesses of our colonial history and followed each other off the edge of a cliff. Shouldnt they be extinct?

An article celebrating an infamous Bill Leak cartoon the one which depicts an Indigenous father unable to remember his childs name sparked me to respond to those with this mindset. I suggest you dont bother reading any of these articles dont give them the benefit of a click. But I will summarise: A journalist, hiding behind a rotting faade of caring about Indigenous children, argued that the statistics of Indigenous over-representation in prisons are caused by Indigenous parents [who] routinely abandon their responsibilities and do little to instil in their children respect for our laws and the property of others. According to this privileged white man, While [Indigenous parents] march up and down the street waving flags, their children are stealing cars, robbing houses and being hauled off to the watch-house.

The harm that racist comments and cartoons cause is never felt by those who make them. It is not white males, nor their children, who are creepily shadowed by security as they shop. They dont feel the suspicious glances that a First Nations father feels when he hugs his child, as if he is not a protector of the child, but as if the child needs protection from him. They would never have felt that thick and heavy fear that we feel, when we imagine what may well happen to our children should they step into the path of a cop who has nodded in agreement at a cartoon in a major paper, and believes that all Black kids, thanks to all Black parents, carry a greater criminal intent in our DNA.

Racist stereotypes have an awful human cost.

The fact that Indigenous people die around eight years younger than other Australians says more about how little regard our political system has for my people, than it does about our genetics. And the fact that Indigenous people are proportionately the most incarcerated people on the planet says more about our powerlessness as a people to hold the nations law and policymakers to account, than it does about my childrens capacity to understand right from wrong.

It really is as the Uluru Statement so eloquently and powerfully says:

Proportionately, we are the most incarcerated people on the planet. We are not an innately criminal people. Our children are aliened from their families at unprecedented rates. This cannot be because we have no love for them. And our youth languish in detention in obscene numbers. They should be our hope for the future. These dimensions of our crisis tell plainly the structural nature of our problem. This is the torment of our powerlessness.

And how can you argue with that, unless you believe we are less than human unless you are racist?

I had to think hard about if I bite back by writing this article. Why give the likes of Leak and others any attention, I wondered. Should I ignore it and focus on the positives rather than the negatives?

I concluded there should be a response. The stereotype must be defeated; not so much by changing the ignoramus mind, but by changing the country so the ignoramus is forced closer to that cliff.

And so it is to the pen, the ink, the keyboard we go, more and more Indigenous writers who are fighting fire with fire. We are the authors of who we are. Not old white men.

This is one of the reasons 12 First Nations men wrote a book with me, Dear Son Letters and reflections from First Nations fathers and sons. We wrote it, partly in response to publications like Bill Leaks racist cartoon, but also because of the awful legacies of the Northern Territory Intervention, and the crap we were taught about our First Nations forefathers in school that our forefathers were savages while the white students forefathers were our discoverers and saviours. Dear Son celebrates Indigenous fatherhood through letters and poems. We express love for ourselves and our families in a beautiful act of defiance.

The key factor is that contrary to claims of failed responsibility by Indigenous parents, we in fact are calling for greater responsibility. We march the streets and fly our flags, we protest because we love our children. We are calling to change this country for the better we want a referendum for a constitutionally enshrined Indigenous voice, so we may hold parliament accountable for failing to meet their responsibility to keep all Australians equally safe.

Thomas Mayor is a Kaurareg Aboriginal and Kalkalgal, Erubamle Torres Strait Islander. He is the Indigenous officer of the Maritime Union of Australia and the author of Dear Son Letters and reflections from First Nations fathers and sons. He tweets @tommayor11

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I write while my children steal cars and rob houses: the awful human cost of racist stereotypes - The Guardian

AUSTIN (KXAN) How far would you go to save your childs life? Thats a question some parents have to ask themselves after learning their child has been diagnosed with a rare disease.

While each rare disease only impacts a small portion of the population, thousands of them exist. KXAN found many Texas parents are forced to quit their jobs and become full-time advocates for their kids after diagnosis. Funding research for potential treatments costs millions of dollars.

Here are some of those families.

Five-year-old Simon could probably hold his own against just about anyone in a game of Horse. Its something you would see go viral on social media, the little guy can sink baskets on his Little Tikes hoop for hours.

Simon loves basketball. His mom says hes been that way since he was 2 years old.

While his shooting is beyond impressive, its actually the happy dance he does when hes made a particularly impressive shot that might be more fun to watch. Its hard not to match Simons energy when youre in a room with him especially when hes sinking baskets one after another.

But this isnt what Simons life is going to look like much longer without treatment.

Simon has Sanfilippo Syndrome, a rare disease that his mom, Alina Gorniak, describes as Alzheimers in children. As the disease progresses, Simon will lose his ability to speak, care for himself, he wont be able to run or jump or shoot a basketball, hell suffer from seizures and by his teens, Simon will likely die.

I just cried and cried and cried, Gorniak said sitting on the floor with Simon in her lap, remembering the night she learned Simon had Sanfilippo. And then I woke up in the morning thinking okay, what do we do next?

The answer to that question was to fight, and parents like her have to if they want to see the needle move on potential treatments or cures for rare diseases. Because a rare disease, as the name indicates, impacts so few people proportionally, biotechnology companies dont generally initiate or fund the research.

Thats where the parents come in.

We have vulnerably opened our world up to the rest of the world in hopes of finding a cure for Simon and other kids with Sanfilippo Syndrome, Gorniak said.

Even though rare diseases are well, rare Simons family is far from alone. Maxwells family is going through a very similar process, trying to raise money for research that could potentially save their sons life.

Maxwell has a disease that doesnt even have a formal name, referred to by the gene SLC6A1. The disease causes developmental disabilities, a movement disorder and eventually debilitating epilepsy. Doctors told Maxwells parents that nothing could be done.

They said give him the best life you can, we have no idea what the future holds, youre going to become the expert in this disease,' Maxwells mom, Amber Freed, said.

Freed quit her job and started calling around to scientists and research groups hoping for a better answer. She found that UT Southwestern in Dallas was willing to develop a gene therapy that could potentially help Maxwell, and other kids with the same disease.

The catch, again, was money. Freed now works around the clock trying to raise enough of it to keep the research from being tabled.

By far the greatest challenge for me has been balancing motherhood while trying to help Maxwell. Its finding a balance between fighting for him and being with him, Freed said.

For these two families, its a full-time job seeking out groups and trials that could help their children. At the end of the day, Freed described her sons disease as one that fell into the too rare to care category.

Doctors are only going to see a couple of these cases in their lifetime, scientists dont work on them often and biotechs dont work on diseases that dont effect many people because its not profitable, Freed said.

UT Southwestern is where Maxwells family turned. Just this month, UT Southwestern was named a rare disease center for excellence by the National Organization for Rare Disorders (NORD). That designation is designed to help expand access, and advance care and research for rare disease patients in the United States, a news release said.

But to get her son connected to UT Southwestern, Freed says she had to send a researcher Uber Eats snacks with messages from Maxwell every day. Finally, she found he was going to be at a conference and just showed up.

Sat down right next to him in a row with no people in it and he turned to me and said hi, Amber,' Freed said. It was either going to be a beautiful team or he was going to file for a restraining order, and Im very happy to report that it has become a beautiful team.

Meanwhile, the Croke family turned to the Cure Sanfilippo Foundation. Glenn ONeill, the president of the foundation, also has a child with the syndrome Simon has. Like these families, he and his wife work full-time seeking out a cure.

Oftentimes its left to these parent foundations and organizations to make the difference, ONeill said.

The general rule of thumb is that to fund basic research, you need $100,000. To move that to a preclinical research stage, you need $1 million. To fund a phase one clinical trial youll need about $10 million and to get an approved treatment all the way through the FDA approval process costs between $50 and $100 million, ONeill told KXAN.

Were not going to sit back and do nothing, ONeill said. Were going to try and fund that early research so that it actually de-risks the research so biotechs are more interested because some of that early research has been done.

The National Organization for Rare Disorders puts out a report card every year, breaking down how all 50 states stack up when it comes to supporting people with rare diseases.

In their most recent report, published in January of 2021, Texas failed in three of the seven ranked categories. The state passed, or was given an A for three others.

You can read the report here:

There are more than 7,000 identified rare diseases, according to the National Institutes of Health (NIH). Roughly 95% of those diseases have no treatment.

Dr. Brendan Lee, professor and chairman of the department of molecular and human genetics at the Baylor College of Medicine, and the main investigator for the Undiagnosed Diseases Network, says theres just not enough research available to look into each and every rare disease.

There are so many rare diseases, and while theres enormous research that goes on in this country, in the world, and obviously the U.S. has been the leader in the world in investing in research and technology innovation, there still isnt enough research to account for every rare disease, Lee said.

The Undiagnosed Diseases Network works to help patients identify undiagnosed rare diseases and connects hospitals and researchers in an attempt to spread awareness and get people to solutions faster.

Patients often bounce around getting all different types of tests and they dont point to a known association, a label, Lee said. Thats where we and this network come together.

For more information about the UDN and the application process, visit the networks website.

Both of these Texas families need your help donating, and sharing their story.

The Freed family is working to raise $1 million to benefit SLC6A1 Connect, which is advocating for research to help find a treatment and cure for kids like Maxwell. To donate visit their GoFundMe here.

Gorniak and her husband working to raise $1 million for the Cure Sanfilippo Foundation, which is doing research that could help kids like Simon. A fundraiser for the Cure Sanfilippo Foundation through Simons family can be found on GoFundMe.

Continue reading here:
Treatment in Texas: For families of kids with rare diseases, its a full-time job to advocate for, raise millions for research - KXAN.com

Branch of anthropology that studies the physical development of the human species

Biological anthropology, also known as physical anthropology, is a scientific discipline concerned with the biological and behavioral aspects of human beings, their extinct hominin ancestors, and related non-human primates, particularly from an evolutionary perspective.[1] This subfield of anthropology systematically studies human beings from a biological perspective.

As a subfield of anthropology, biological anthropology itself is further divided into several branches. All branches are united in their common orientation and/or application of evolutionary theory to understanding human biology and behavior.

Biological Anthropology looks different today than it did even twenty years ago. The name is even relatively new, having been 'physical anthropology' for over a century, with some practitioners still applying that term.[2] Biological anthropologists look back to the work of Charles Darwin as a major foundation for what they do today. However, if one traces the intellectual genealogy and the culture back to physical anthropology's beginningsgoing further back than the existence of much of what we know now as the hominin fossil recordthen history focuses in on the field's interest in human biological variation. Some editors, see below, have rooted the field even deeper than formal science.

Attempts to study and classify human beings as living organisms date back to ancient Greece. The Greek philosopher Plato (c. 428c. 347 BC) placed humans on the scala naturae, which included all things, from inanimate objects at the bottom to deities at the top.[3] This became the main system through which scholars thought about nature for the next roughly 2,000 years.[3] Plato's student Aristotle (c. 384322 BC) observed in his History of Animals that human beings are the only animals to walk upright[3] and argued, in line with his teleological view of nature, that humans have buttocks and no tails in order to give them a cushy place to sit when they are tired of standing.[3] He explained regional variations in human features as the result of different climates.[3] He also wrote about physiognomy, an idea derived from writings in the Hippocratic Corpus.[3] Scientific physical anthropology began in the 17th to 18th centuries with the study of racial classification (Georgius Hornius, Franois Bernier, Carl Linnaeus, Johann Friedrich Blumenbach).[4]

The first prominent physical anthropologist, the German physician Johann Friedrich Blumenbach (17521840) of Gttingen, amassed a large collection of human skulls (Decas craniorum, published during 17901828), from which he argued for the division of humankind into five major races (termed Caucasian, Mongolian, Aethiopian, Malayan and American).[5] In the 19th century, French physical anthropologists, led by Paul Broca (1824-1880), focused on craniometry[6] while the German tradition, led by Rudolf Virchow (18211902), emphasized the influence of environment and disease upon the human body.[7]

In the 1830s and 1840s, physical anthropology was prominent in the debate about slavery, with the scientific, monogenist works of the British abolitionist James Cowles Prichard (17861848) opposing[8] those of the American polygenist Samuel George Morton (17991851).[9]

In the late 19th century, German-American anthropologist Franz Boas (1858-1942) strongly impacted biological anthropology by emphasizing the influence of culture and experience on the human form. His research showed that head shape was malleable to environmental and nutritional factors rather than a stable "racial" trait.[10] However, scientific racism still persisted in biological anthropology, with prominent figures such as Earnest Hooton and Ale Hrdlika promoting theories of racial superiority[11] and a European origin of modern humans.[12]

In 1951 Sherwood Washburn, a former student of Hooton, introduced a "new physical anthropology."[13] He changed the focus from racial typology to concentrate upon the study of human evolution, moving away from classification towards evolutionary process. Anthropology expanded to include paleoanthropology and primatology.[14] The 20th century also saw the modern synthesis in biology: the reconciling of Charles Darwins theory of evolution and Gregor Mendels research on heredity. Advances in the understanding of the molecular structure of DNA and the development of chronological dating methods opened doors to understanding human variation, both past and present, more accurately and in much greater detail.

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Biological anthropology - Wikipedia

The National Institute of Allergy and Infectious Diseases (NIAID) has launched efforts to create a vaccine that would protect people from most flu strains, all at once, with a single shot.

Over the years, Ive written many articles refuting claims that vaccines are safe and effective, but well put all that aside for the moment and follow the bouncing ball.

Massachusetts Senator and big spender, Ed Markey, has introduced a bill that would shovel no less than a billion dollars toward the universal flu-vaccine project.

Here is a sentence from an NIAID press release that mentions one of several research approaches:

NIAID Vaccine Research Center scientists have initiated Phase 1/2 studies of a universal flu vaccine strategy that includes an investigational DNA-based vaccine (called a DNA prime)

This is quite troubling, if you know what the phrase DNA vaccine means. It refers to what the experts are touting as the next generation of immunizations.

Instead of injecting a piece of a virus into a person, in order to stimulate the immune system, synthesized genes would be shot into the body. This isnt traditional vaccination anymore. Its gene therapy.

In any such method, where genes are edited, deleted, added, no matter what the pros say, there are always unintended consequences, to use their polite phrase. The ripple effects scramble the genetic structure in numerous unknown ways.

Here is the inconvenient truth about DNA vaccines

They will permanently alter your DNA.

The reference is the New York Times, 3/15/15, Protection Without a Vaccine. It describes the frontier of researchthe use of synthetic genes to protect against disease, while changing the genetic makeup of humans. This is not science fiction:

By delivering synthetic genes into the muscles of the [experimental] monkeys, the scientists are essentially re-engineering the animals to resist disease.

The skys the limit, said Michael Farzan, an immunologist at Scripps and lead author of the new study.

The first human trial based on this strategy called immunoprophylaxis by gene transfer, or I.G.T. is underway, and several new ones are planned. [That was three years ago.]

I.G.T. is altogether different from traditional vaccination. It is instead a form of gene therapy. Scientists isolate the genes that produce powerful antibodies against certain diseases and then synthesize artificial versions. The genes are placed into viruses and injected into human tissue, usually muscle.

Here is the punchline:

The viruses invade human cells with their DNA payloads, and the synthetic gene is incorporated into the recipients own DNA. If all goes well, the new genes instruct the cells to begin manufacturing powerful antibodies.

Read that again: the synthetic gene is incorporated into the recipients own DNA.

Alteration of the human genetic makeup.

Not just a visit. Permanent residence. And once a persons DNA is changed, he will live with that changeand all the ripple effects in his genetic makeupfor the rest of his life.

The Times article taps Dr. David Baltimore for an opinion:

Still, Dr. Baltimore says that he envisions that some people might be leery of a vaccination strategy that means altering their own DNA, even if it prevents a potentially fatal disease.

Yes, some people might be leery. If they have two or three working brain cells.

This is genetic roulette with a loaded gun. Anyone and everyone on Earth injected with a DNA vaccine will undergo permanent and unknown genetic changes

And the further implications are clear. Vaccines can be used as a cover for the injections of any and all genes, whose actual purpose is re-engineering humans in far-reaching ways.

The emergence of this Frankenstein technology is paralleled by a shrill push to mandate vaccines, across the board, for both children and adults. The pressure and propaganda are planet-wide.

The freedom and the right to refuse vaccines has always been vital. It is more vital than ever now.

It means the right to preserve your inherent DNA.

Posted with permission by World Mercury Project

Original post:
Altering Human Genetics Through Vaccination

Virtually every human ailment has some basis in our genes. Until recently, doctors were able to take the study of genes, or genetics, into consideration only in cases of birth defects and a limited set of other diseases. These were conditions, such as sickle cell anemia, which have very simple, predictable inheritance patterns because each is caused by a change in a single gene.

With the vast trove of data about human DNA generated by the Human Genome Project and other genomic research, scientists and clinicians have more powerful tools to study the role that multiple genetic factors acting together and with the environment play in much more complex diseases. These diseases, such as cancer, diabetes, and cardiovascular disease constitute the majority of health problems in the United States. Genome-based research is already enabling medical researchers to develop improved diagnostics, more effective therapeutic strategies, evidence-based approaches for demonstrating clinical efficacy, and better decision-making tools for patients and providers. Ultimately, it appears inevitable that treatments will be tailored to a patient's particular genomic makeup. Thus, the role of genetics in health care is starting to change profoundly and the first examples of the era of genomic medicine are upon us.

It is important to realize, however, that it often takes considerable time, effort, and funding to move discoveries from the scientific laboratory into the medical clinic. Most new drugs based on genome-based research are estimated to be at least 10 to 15 years away, though recent genome-driven efforts in lipid-lowering therapy have considerably shortened that interval. According to biotechnology experts, it usually takes more than a decade for a company to conduct the kinds of clinical studies needed to receive approval from the Food and Drug Administration.

Screening and diagnostic tests, however, are here. Rapid progress is also being made in the emerging field of pharmacogenomics, which involves using information about a patient's genetic make-up to better tailor drug therapy to their individual needs.

Clearly, genetics remains just one of several factors that contribute to people's risk of developing most common diseases. Diet, lifestyle, and environmental exposures also come into play for many conditions, including many types of cancer. Still, a deeper understanding of genetics will shed light on more than just hereditary risks by revealing the basic components of cells and, ultimately, explaining how all the various elements work together to affect the human body in both health and disease.

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A Brief Guide to Genomics - National Human Genome Research ...

The University of Michigan Genetic Counseling Programis one of the most well established programs in the country and exemplifies our long history of innovation in clinical service and education in genetics and genomics. Michigan graduates emerge as extremely well rounded genetic counselors, who are ready to meet the current challenges in clinical genomic medicine and are able to help guide the evolving practice of genetic counseling and genomic medicine.

The vision of the University of Michigan Genetic Counseling Program is to train genetic counselors that are able to meet the current challenges and to help shape the future of genetic counseling and genomic medicine.

Our mission is to provide an individualized, integrated and supportive graduate training environment comprised of:

Most importantly, our graduate training program is responsive to the interests and unique needs of individual students.

Contact us at UMGenetics@med.umich.edu.

Follow us on Instagram! @umgcp

The University of Michigan Masters in Genetic Counseling program is accredited by the Accreditation Council for Genetic Counseling (ACGC), located at 7918 Jones Branch Drive, Suite 300, McLean, VA 22102 USA, web addresswww.gceducation.org. ACGC can be reached by phone at 913.222.8668.Pleaseclick herefor more information regarding professional licensure.

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Genetic Counseling Program | Human Genetics | Michigan ...

Media Contacts Julie Kiefer

Associate Director, Science Communications, University of Utah HealthEmail: julie.kiefer@hsc.utah.eduPhone: 801-587-1293

Nov 08, 2021 7:00 AM

Understanding geographic distribution, ancestry of disease could help identify people who are at risk.

(Salt Lake City) - University of Utah Health scientists have documented the spread of a disease gene across continents and over centuries. The genetic mutation causes a heart arrhythmia, known as atrial fibrillation (AF), that manifests in early adulthood and leads to fatigue, stroke, and increased risk of early death.

It is important to identify carriers of this genetic legacy, the authors say, since these individuals often dont know theyre at risk until they have a medical episode that can be serious. The study reports that an algorithm that combines genetic and genealogic data can be used to predict who will develop the disease and who wont. The approach could one day flag susceptible individuals so they can receive appropriate surveillance and treatment to prevent atrial fibrillation and its consequences.

This first-of-its-kind study shows the power of merging human genetics and human history, says the studys senior author Martin Tristani-Firouzi, M.D., a pediatric cardiologist at U of U Health and Intermountain Primary Childrens Hospital and scientist at the Nora Eccles Harrison Cardiovascular Research and Training Institute.

The research was conducted in collaboration with scientists at AncestryDNA, Intermountain Medical Center and Medical College of Wisconsin, and published in Nature Communications.

The unique partnership between U of U Health and AncestryDNA has broadened our understanding of human disease into a historical context, one that includes the history of our ancestral origins and population movement across time and continents, says genetics expert Lynn Jorde, Ph.D., chair of the Department of Human Genetics at U of U Health, who was not a co-author of the study.

Understanding the Past to Benefit the Future

The study estimates that around 5,000 years ago during the Bronze Age, a person born in what is now Northern Europe spontaneously developed a genetic mutation that causes young-onset AF. The mutation was passed on from one generation to the next, and as these descendants migrated across continents, the disease gene came with them. Using ancestral birth records, the scientists showed that descendants migrated from Denmark to the eastern U.S. 300 years ago, over time moving westward along Mormon migration routes to the Mountain West.

Though the mutation came from Europe, the scientific story began in Utah, when investigators at U of U Health were searching for families with high-risk AF. By overlaying medical records with genealogies, they found AF was prevalent in a Utah family they could trace for eight generations, to nearly 3,000 family members. By sequencing and analyzing DNA from present-day members, they found the cause of the disease that had plagued their ancestors for 182 generations: a dominant mutation in KCNQ1, an ion channel gene that is essential for maintaining the hearts rhythm.

This first-of-its-kind study shows the power of merging human genetics and human history.

To characterize the mutation further, the scientists transformed family members blood cells, which are much easier to access than cells from the heart, into cardiac muscle cells in the lab. The heart cells from carriers of the mutation displayed an abnormally fast rate of re-charging (repolarization), explaining the familys susceptibility to early onset AF.

With that information in hand, the scientists could focus on determining how to identify individuals living today who are at risk for AF. They developed and validated an algorithm that tracks large, shared segments of chromosomes between individuals, using it to mine a large genealogic database for people who are relatives of known carriers and likely carry the disease-causing mutation. These computational approaches allow us to determine geographic distributions of disease and potentially narrow down the individuals at highest risk for disease, Tristani-Firouzi says. This could help focus public health initiatives to the people who need it most.

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The research was supported by the Utah Genome Project and Nora Eccles Treadwell Foundation and published as The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele.

Competing interest statement: Five of the studys co-authors are equity holders and/or former employees of AncestryDNA.

In addition to Tristani-Firouzi, co-authors from U of U Health are Angelica Lopez-Izquierdo, Chuanchau J. Jou, Scott Cho, Colin T. Maguire, Natalia Torres, Neil E. Bowles, Cammon B. Arrington, Brett J. Kennedy, Susan P. Etheridge, Chase Pribble, Lindsay Meyers, Derek Lundahl, Christopher A. Kauffman , Gordon Lemmon, Steven Boyden, W. Scott Watkins, Mary Anne Karren, Kushi Shah, Mark Yandell.

Research News genomics cardiology

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Study Follows Human History and Migration of Disease - University of Utah Health Care

Recent technological breakthroughs in genomic analysis, combined with archeological, paleoanthropological, linguistic and other information, now give us an unparalleled opportunity to trace humanitys evolution and movement in time how we developed, differentiated and interbred many times, and arrived at our present planet-wide population.

Until recently, the leading theory of human population descent, known as the serial founder model, envisioned modern humans expanding out of Africa and the Near East around 50,000 years ago and leaving descendent populations along their routes of migration. The settlements of these groups were thought to remain unmixed for tens of thousands of years, and consequently were classified according to location, superficial appearance and culture as East Asians, Caucasians, West Africans, Native Americans and Australasians.

We now know, thanks to studies of ancient DNA (aDNA), that the serial founder model is wrong. It turns out that present-day populations are actually mixtures of highly divergent populations that no longer exist. Nor are present-day populations, thanks to perennial migration and mixing, exclusive descendants of the populations that lived in the same locations ten thousand years ago.

DNA is a double helix formed by base pairs attached to a sugar-phosphate backbone. (US National Library of Medicine)

The announcement of evolutionary trees based on variation in mitochondrial DNA in a 1987 edition of Nature, followed by a study on evolution of the human Y chromosome a few years later, staggered the world. From the pattern created by the random genetic variations on both of these lineages, geneticists can conclude facts rather than suppositions and can of course construct family trees for everyone alive today.

DNA molecules make up the human genome, the genetic code that each of us inherits from our parents. DNA consists of twin chains of molecules callednucleotidesmade from the chemicals adenine (A), cytosine (C), guanine (G) and thymine (T). Each chain, broken up into 23 chromosomes, adds up to about three billion chemical blocks in length. Genesare fragments of these chains, generally around a thousand nucleotides long, each one telling something about how the body is built.

All humanity descended from a single female ancestor and her birthplace was Africa.

Each time egg and sperm are created, the approximately 3 billion base pairs of DNA comprising our genes are copied. Random variations in these inherited sequences are calledmutations or markers. They are what make us individual, and they are also the means by which individual ancestry can be determined. Since these changes occur at a known constant rateover time roughly once every thousand nucleotides the greater number of differences between two peoples mutations, the further they are away from sharing a common ancestor.

All living men are related through a single male ancestor who lived 60,000100,000 years ago.

Mitochondrial DNA (mtDNA) is inherited only through the maternal line in humans. This knowledge enabled geneticists to demonstrate that all humanity descended from a single female ancestor, now known as Mitochondrial Eve, and established that her birthplace, and that of all humanity, was Africa.

All male mammals have one Ychromosome that contains a gene called SRY, which triggers the development of a male. The Y chromosome is passed down essentially unchanged from one generation to the next; in other words, theY chromosomeDNA of all living men is related through a single male ancestor who lived 60,000100,000 years ago. This discovery enabled population geneticists to trace human ancestries through the pattern of mutations or markers carried on the male Ychromosome.

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Genetics and Evolution - The Human Journey