Category Archives: Human Genetics

Scientists from University College London and Imperial College London in the United Kingdom have identified new genetic locations that might make some people more prone to developing type 2 diabetes.

Type 2 diabetes affects hundreds of millions of people worldwide, and the numbers have skyrocketed in recent years. According to the World Health Organization (WHO), the number of people with diabetes has almost quadrupled in the past few decades, from 108 million in 1980 to 422 million in 2014.

In the United States, 29 million people currently have diabetes, and 86 million are thought to have prediabetes.

Until now, researchers were aware of 76 chromosomal locations, or "loci," that underlie this metabolic disease. However, new research analyzed the human genome further and found an additional 111.

The new study - published in the American Journal of Human Genetics - was co-led by Dr. Nikolas Maniatis of University College London's (UCL) Genetics, Evolution, and Environment department, together with Dr. Toby Andrew of Imperial College London's Department of Genomics of Common Disease.

Using a UCL-developed method of genetic mapping, Maniatis and team examined large samples of European and African American people, summarizing 5,800 cases of type 2 diabetes and almost 9,700 healthy controls.

They found that the new loci - together with the ones previously identified - control the expression of more than 266 genes surrounding the genetic location of the disease.

Most of the newly discovered loci were found outside of the coding regions of these genes, but within so-called hotspots that change the expression of these genes in body fat.

Of the newly identified 111 loci, 93 (or 84 percent) were found in both European and African American population samples.

After identifying genetic loci, the next step was to use deep sequence analysis to try to determine the genetic mutations responsible for the disease.

Maniatis and colleagues used deep sequencing to further examine three of the cross-population loci with the aim of identifying the genetic mutations. They then investigated a different sample of 94 Europeans with type 2 diabetes, as well as 94 healthy controls.

The researches found that the three loci coincided with chromosomal regions that regulate gene expression, contain epigenetic markers, and present genetic mutations that have been suggested to cause type 2 diabetes.

Dr. Winston Lau, of UCL's Genetics, Evolution, and Environment department, explains the significance of these findings:

"Our results mean that we can now target the remaining loci on the genetic maps with deep sequencing to try and find the causal mutations within them. We are also very excited that most of the identified disease loci appear to confer risk of disease in diverse populations such as African Americans, implying our findings are likely to be universally applicable and not just confined to Europeans."

Dr. Maniatis also highlights the contribution their study brings to the research community:

"No disease with a genetic predisposition has been more intensely investigated than type 2 diabetes. We have proven the benefits of gene mapping to identify hundreds of locations where causal mutations might be across many populations, including African Americans. This provides a larger number of characterized loci for scientists to study and will allow us to build a more detailed picture of the genetic architecture of type 2 diabetes," says the lead author.

Dr. Andrew also adds, "Before we can conduct the functional studies required in order to better understand the molecular basis of this disease, we first need to identify as many plausible candidate loci as possible. Genetic maps are key to this task, by integrating the cross-platform genomic data in a biologically meaningful way."

Learn how gene discovery could yield new treatments for type 2 diabetes.

Read more:
Scientists find new genetic locations for type 2 diabetes - Medical News Today

One of the greatest ethical debates in science - manipulating the fundamental building blocks of life - is set to heat up once more.

According to scientists behind an ambitious and controversial plan to write the human genome from the ground up, synthesising DNA and incorporating it into mammalian and even human cells could be as little as four to five years away.

Nearly 200 leading researchers in genetics and bioengineering are expected to attend a meeting in New York City next week, to discuss the next stages of what is now called the Genome Project-write (GP-write) plan: a US$100 million venture to research, engineer, and test living systems of model organisms, including the human genome.

Framed as a follow-up to the pioneering Human Genome Project (HGP) which culminated in 2003 after 13 years of research that mapped the human genetic code this project is billed as the logical next step, where scientists will learn how to cost-effectively synthesise plant, animal, and eventually human DNA.

"HGP allowed us to read the genome, but we still don't completely understand it," GP-write coordinator Nancy J. Kelley told Alex Ossola at CNBC.

While those involved are eager to portray the project as an open, international collaboration designed to further our understandings of genome science, GP-write provoked considerable controversy after its first large meet-up a year ago was conducted virtually in secret, with a select group of invite-only experts holding talks behind closed doors.

"Given that human genome synthesis is a technology that can completely redefine the core of what now joins all of humanity together as a species, we argue that discussions of making such capacities real ... should not take place without open and advance consideration of whether it is morally right to proceed," medical ethicist Laurie Zoloth from Northwestern University and synthetic biologist Drew Endy of Stanford University wrote at the time forCosmos Magazine.

Since then, the researchers behind the initiative have been more candid, announcing details of the project in a paper in Science, as well as releasing a white paper outlining GP-write's timeline and goals.

One of GP-write's lead scientists geneticist and biochemist Jef Boeke from NYU Langone Medical Centre says the approach has always been to consult the scientific community at large, to help frame and steer the research as it develops.

"I think articulation of our plan not to start right off synthesising a full human genome tomorrow was helpful. We have a four- to five-year period where there can be plenty of time for debate about the wisdom of that, whether resources should be put in that direction or in another," he told CNBC.

"Whenever it's human, everyone has an opinion and wants their voice to be heard. We want to hear what people have to say."

But while that conversation is taking place, the science is developing regardless.

In March, Boeke shared details on a related project he's involved with, where he oversees hundreds of scientists who are working together to synthesise an artificial yeast genome, which is expected to be complete by the end of 2017.

There might be a large gap between successfully synthesising yeast DNA and creating artificial human DNA from scratch. But the overall goal is to figure out how to synthesise comparatively simple genetic codes (such as microbial and plant DNA), before moving on to the ultimate prize.

"If you do that, you gain a much deeper understanding of how a complicated apparatus goes," says Boeke. "Really, a synthetic genome is an engine for learning new information."

Under its new organisational structure, GP-write is the parent project, which encompasses the core area of Human Genome Project-write (HGP-write), focussed on synthesising human genomes in whole or in part.

In addition to synthesising plant, animal, and human DNA, the primary goal of the project is to lower the cost of engineering genomes.

At present, it's estimated to cost about 10 US cents to synthesise every base pair of nucleobase molecules that make up our DNA and given humans have about 3 billion of these pairs, that makes for some pretty prohibitively expensive synthesis.

The plan is to reduce this cost by more than 1,000-fold within 10 years.

If that happens, the lower expense involved in synthesising DNA could unlock all kinds of new potential medical treatments targeting illnesses such as cancer and genetic diseases, helping the body to accept organ transplants, and learning more about immunity to viruses.

Of course, before that can happen, GP-write's organisers need to raise an estimated US$100 million in funding which will be another of the drivers of next week's get together.

It's an incredibly exciting undertaking, although there's bound to be more controversy as GP-write marches ahead.

More:
Tensions flare as scientists go public with plan to build synthetic ... - ScienceAlert

The Notre Dame Center for Ethics and Culture awarded the 2017 Notre Dame Evangelium Vitae Medal to the Jrme Lejeune Foundation at a Mass and banquet on April 29, 2017, attended by more than 400 guests, including persons with Down syndrome and other genetic disorders and their families.

Professor Lejeunes great genius was the piercing quality of his vision, which saw in the weakest members of society nothing less than the reflection of the Creator, said O. Carter Snead, William P. and Hazel B. White Director of the Notre Dame Center for Ethics and Culture. For persons with Down syndrome and other genetic disabilities, this vision was, quite simply, transformative. Where once they were shunned, hidden away, and disinherited by a society that did not understand them, Lejeunes discovery in 1958 of an extra chromosome on the twenty-first pair enabled this humble French doctor to bring his patientshis little ones, as he called theminto the light.

Snead concluded, The Jrme Lejeune Foundation continues to speak out on behalf of societys disinherited via public advocacy that helps the world to see with the eyes of Professor Lejeune, to love with his radical hospitality, to appreciate the beauty in our differencesand above all, to recognize in each unique individual the reflection of the Creator, which unites us all with equal dignity.

In a message of greeting from Pope Francis sentfor the occasion, the Cardinal Secretary of State wrote, "Mindful of the Foundation's commitment to assisting children with genetic intelligence disorders, His Holiness prays that this presentation may highlight the urgent need to support and defend the dignity of all human life, from conception to natural death. This includes not only serving children with special needs, but also providing for the care and support of their families, who 'render the Church and society an invaluable witness of faithfulness to the gift of life'(Amoris Laetitia 47)."

Professor Jrme Lejeune was born in 1926 in Montrouge, France. In 1958, while studying chromosomes of patients with Down syndrome, he discovered an unexpected third chromosome on the 21st pair, a genetic abnormality he named trisomy 21. This discovery was the first to link an intellectual disability to a genetic cause. Professor Lejeune also conducted pioneering research into trisomy 18 and trisomies on the 8th and 9th chromosomal pairs.

Having discovered the genetic causes of these intellectual disabilities, Lejeune threw himself into caring for his patients, searching for treatments, and speaking out on their behalf. Professor Lejeune devoted his life to protecting unborn children with Down syndrome from so-called therapeutic abortion, which he regarded, as Pope St. John Paul II later wrote, as waging a war of the powerful against the weak (Evangelium Vitae 12). Medicine becomes mad science when it attacks the patient instead of fighting the disease, Professor Lejeune said. We must always be on the patients side, always.

In 1962, Professor Lejeune was honored by President John F. Kennedy with the first Kennedy Prize for his research into intellectual disabilities. In 1969, he received the William Allen Award from the American Society of Human Genetics, the highest award possible for a geneticist. Widely considered the father of modern genetics, Professor Lejeune was appointed by Pope John Paul II as the first president of the Pontifical Academy for Life, which advises the pope on issues surrounding the promotion and defense of human life, especially in bioethics. Professor Lejeune died on Easter Sunday, 1994. He was recognized as a Servant of God by the Vaticans Congregation for the Causes of Saints in 2012.

The Jrme Lejeune Foundation was established in 1996 to carry on the professors commitment to research, care, and advocacy on behalf of persons with genetic intellectual disabilities. As Snead said, In a society where 90 percent of children diagnosed in the womb with Down syndrome are abortedwhere even to show in the media a child with Down syndrome appearing happy and content can be labeled inappropriatethe Jrme Lejeune Foundation continues to defend the sublime dignity of all Gods children, born and unborn. In addition to funding ethically-conducted research, the Foundation provides direct health care, education, and advocates for legal protections for persons with disabilities. Led by Chairman Jean-Marie Le Mn and Vice President Birthe Lejeune (Dr. Lejeunes widow), the Foundation conducts this essential work in its namesakes spirit of radical generosity, hospitality, and love of the most vulnerable members of the human family.

Theevening began with Masscelebrated by Bishop Kevin C. Rhoades of Fort WayneSouth Bend,concelebrated by more than 25 members of the Congregation of Holy Cross, including Fr. Bill Lies, C.S.C., University Vice President for Mission Engagement and Church Affairs. The gifts for consecration were presented by the family ofJohn and Mary O'Callaghan, whoseson Tommy waspersonally blessed by Pope Francis at the Jubilee Mass forthe Sick and Disabled in June 2016. Other notable guests at the celebration includedAmbassador Mary Ann Glendon, the Learned Hand Professor of Law,Harvard Law School;David DeSanctis, actor and star of the 2014 feature film Where Hope Grows; and Richard Doerflinger,inaugural recipient of the Notre Dame Evangelium Vitae Medal.

Upon receiving the medal, the diminutive Madame Lejeune addressed her remarksto theguestswith Down syndrome,telling them, "You are my husband's beloved 'little ones.' Thank you for being you!" She concluded her brief comments by praising the pro-life witness of the University of Notre Dame, remarkingthat, "There is no university like this in France!"

The Notre Dame Evangelium Vitae Medal is the nations most important lifetime achievement award for heroes of the pro-life movement, honoring individuals whose efforts have served to proclaim the Gospel of Life by steadfastly affirming and defending the sanctity of human life from its earliest stages. Previous recipients include Richard Doerflinger, associate director of the USCCBs Secretariat for Pro-Life Activities; Helen M. Alvar, associate professor of law at George Mason University; Mother Agnes Mary Donovan and the Sisters of Life; Congressman Chris Smith, co-chair of the Bipartisan Congressional Pro-Life Caucus, and his wife, Marie Smith, director of the Parliamentary Network for Critical Issues; Supreme Knight Carl Anderson and the Knights of Columbus, and Mother Loraine Marie Maguire and the Little Sisters of the Poor. Announced annually on Respect Life Sunday, the first Sunday of October, the Notre Dame Evangelium Vitae award consists of a specially commissioned medal and $10,000 prize.

A gallery of photos from the celebration may be viewed on the ND Center for Ethics and Culture's Flickr page.

For more information about the Evangelium Vitae Medal and the work of the Notre Dame Center for Ethics and Culture, contact communications specialist Ken Hallenius at 574-631-3192.

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Notre Dame Evangelium Vitae Medal Presented to the Jerome Lejeune Foundation - ND Newswire

Dr. John W. Littlefield, a former chairman of pediatrics and physiology at the Johns Hopkins University School of Medicine whose research advanced the field of genetics and touched countless lives, died April 20 of complications from dementia at his home in the Broadmead retirement community in Cockeysville. He was 91.

Dr. Littlefield's research focused on the use of human cells "as a valuable tool in scientific experimentation, including studies on how our cells age," his daughter, Elizabeth Lascelles Littlefield of Washington, wrote in a biographical profile of her father.

Dr. Littlefield's accomplishments included playing a leading part in discovering the role of the ribosome in protein synthesis. He developed the technique of using amniocentesis to diagnose prenatal genetic disorders, and helped pioneer the derivation and study of human stem cells.

The son of Ivory Littlefield, president of Title Guarantee Co. of Rhode Island, and Mary Littlefield, a homemaker, John Walley Littlefield was born and raised in Providence, R.I.

He attended the Moses Brown School in Providence but left his junior year when to enroll at Harvard College and then Harvard Medical School. He completed his studies at both institutions in five years, graduating from medical school in 1947 at age 21.

He was married in 1950 to Elizabeth Lascelles "Bette" Legge, and they settled in Weston, Mass. She died in 1995.

Dr. Littlefield was called to active duty during the Korean War in 1952 and served as a doctor aboard the USS Repose, a hospital ship stationed off the coast of Korea. He was discharged with the rank of lieutenant. He was a member of the Navy Reserve and was later recalled to active duty, stationed near the Arctic Circle.

After leaving the Navy, he joined the faculty at Harvard Medical School and the staff of Massachusetts General Hospital in Boston.

From 1957 to 1958, Dr. Littlefield and his wife lived in Cambridge, England, where he served as a research assistant to James Watson and Frances Crick, who several years later earned the Nobel Prize in medicine for their study of the molecular structure of DNA.

After returning to Massachusetts General Hospital in 1958, he delved deeper into genetic research and achieved something family members said was a proud accomplishment for him development of a method to isolate hybrid cells, a technique that would be used by researchers in genetic mapping.

From 1965 to 1966, he worked at the Institute of Genetics and Biophyiscs in Naples, Italy. After returning to Boston, he was appointed chief of a new genetics unit at the Children's Service at Massachusetts General. There he gained renown as a champion for genetics then a new discipline that became recognized as a medical specialty in 1982.

During the 1960s, he also co-founded the Genetics Training Program at Harvard Medical School that trained scientists and clinicians and supported researchers in the field.

Dr. Stuart H. Orkin, a professor of pediatrics at Harvard Medical School and a medical investigator at the Howard Hughes Medical Institute, worked with Dr. Littlefield in his research laboratory in 1969.

"I found him to be quiet, gentle and patient. He was a nice man and not aggressive in the sense of an academic approach," Dr. Orkin said.

"He was all about compassion and knew how to take care of patients nicely," said Dr. Vincent M. Riccardi, a medical geneticist who is affiliated with the UCLA Medical Center in Los Angeles.

Dr. Littlefield became a full professor at Harvard Medical School in 1970. Three years later, Dr. Victor A. McKusick, who was known as the "father of medical genetics," brought Dr. Littlefield to Hopkins. He assumed the position of professor and chairman of pediatrics at its school of medicine and pediatrician-in-chief of the children's hospital of Johns Hopkins Hospital.

He continued his work on cultured cells while overseeing a facility that had 250 beds, 60 professors, and saw more than 200,000 patients a year.

Family members said Dr. Littlefield's greatest legacy may be his work in the use of amniocentesis the isolation of fetal cells from the womb that diagnoses genetic disorders in fetuses.

His innovation enabled pregnant women to be tested for a broad range of genetic disorders in their developing fetuses, and for the first time families prone to genetic disorders "who normally might have avoided having children could now safely screen for disorders and make better informed choices about family planning," Ms. Littlefield wrote.

After Dr. Littlefield retired in 1992, he became an integral member of John D. Gearhart's research team at Hopkins, which first identified and isolated human stem cells that were capable of forming all cell types in the body.

"He contributed enormously to this research," said Dr. Gearhart, now a professor of medicine at the Perelman School of Medicine at the University of Pennsylvania.

During this time, Dr. Littlefield also taught courses in ethic in genetics, "pulling together the many issues with which he had grappled throughout his career, and about which he held clear and principled views," his daughter wrote.

He was the author of more than 200 scientific publications and was a co-author of "Variation, Senescence and Neoplasia in Cultured Somatic Cells." He also wrote "The Harriet Lane Home: A Model and a Gem," a history of the old Harriet Lane Clinic at Hopkins.

The John W. Littlefield Collection, which contains his published writings, forms part of the Alan Mason Chesney Medical Archives at Hopkins.

"Throughout his life, he was passionate about the ethical issues and health of women and girls, especially in developing countries, as well as about global issues such as nuclear disarmament and climate change," his daughter wrote.

Dr. Littlefield was also an outspoken supporter and advocate of universal health care through a single-payer health care system.

The former Owing Mill resident moved to Broadmead in 2009. He enjoyed hiking and canoeing at his cabin in the Adirondack Mountains of upstate New York.

Dr. Littlefield played tennis and listened to classical music and jazz. He was a fan of the Orioles and Gary Larson cartoons, family members said.

A memorial service will he held at 2 p.m. May 19 at St. Thomas Episcopal Church, 232 St. Thomas Lane, Owings Mills.

More:
Dr. John W. Littlefield - Baltimore Sun

Description Job Summary

The American Society of Human Genetics (ASHG) is expanding its staff by recruiting a Marketing Manager, who will lead ASHGs efforts designed primarily to expand its membership base and increase attendance to its annual meeting. ASHG, founded in 1948, is the primary professional membership organization for human genetics specialists worldwide. ASHG is a nonprofit society with approximately 7,500 members.

The Marketing Manager will work closely with staff colleagues to develop, implement, and manage marketing activities designed to support ASHGs membership recruitment and retention, annual meeting attendance, and participation in other major ASHG programs. The ideal candidate will possess demonstrated analytical marketing experience along with the ability to work with a team consisting of managers across ASHG departments. Additionally, this individual should have experience with marketing-strategy development and implementation, as well as experience using marketing tools such as Salesforce-based CRM systems and email marketing software.

Major Duties and Responsibilities

Tracks, analyzes, and reports on results of marketing strategies/tactics; uses these results to evaluate effectiveness and propose modifications.

Serves as lead administrator for the CRM database and determines relevant data to store, report, and monitor for management, Board, and committees.

Manages content in the members-only web portal and on public membership web pages.

Assists in conducting market research and developing marketing strategy; leads efforts to implement marketing strategy.

Manages society mailing lists and uses email marketing software to develop effective marketing campaigns that target relevant audiences.

Leads efforts to develop a cohesive and marketable ASHG brand and develops unified marketing themes.

Manages and implements promotional tactics and campaigns for ASHG core customers that include the use of traditional mailings, social media, email, periodical advertising, and other relevant mediums.

Creates promotional materials for ASHG booths at other meetings (ACMG, ESHG, others as needed) and represents ASHG at these booths (requires ~8% travel).

Skills & Qualifications

5+ years of experience in marketing

Bachelor's degree with marketing emphasis

Experience with CRM software (prefer experience with SalesForce)

Experience using email marketing software like Informz, Real Magnet, or similar system

Familiarity with web analytics and social media marketing tools

Excellent verbal and written communication skills

Experience using content management software and web page editing and tracking tools

The position is based at ASHG headquarters in Bethesda, Maryland. We offer excellent benefits including a 403(b) pension plan. For a detailed job description and information about how to apply, please visit: http://www.faseb.org/employment.

EOE

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Chief Marketer - Chief Marketer

We are more than our DNA: Discovering a new mechanism of epigenetic inheritance Science Daily Giacomo Cavalli's team at the Institute of Human Genetics (University of Montpellier / CNRS), in collaboration with the French National Institute for Agricultural Research (INRA), has demonstrated the existence of transgenerational epigenetic ...

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We are more than our DNA: Discovering a new mechanism of epigenetic inheritance - Science Daily

Some 2,700 years ago, in the Tuva region of southern Siberia, over 200 domestic horses were ritually sacrificed to honor the funeral rites of a high-ranking member of the Scythian people, one of the first cultures known to have mastered mounted warfare. About 400 years later, at the turn of the third century BCE, Scythians ceremonially killed around a dozen stallions and interred them in a sepulchral chamber in Berel, Kazakhstan.

These horses were probably none too thrilled about their fates. But thousands of years later, their literal sacrifice is helping to unravel the mysteries of horse domestication, and its enormous impact on human civilization, as evidenced by new research published Thursday in Science.

An international team led by Ludovic Orlando, a professor of molecular archaeology at the University of Copenhagen and research director at the University of Toulouse AMIS laboratory, conducted whole genome sequencing on 14 exceptionally preserved horse remains from three sites: Two stallions from the Siberian royal mound (known as Arzhan I), 11 more from the Kazakh burial grounds, and a mare that lived alongside the Sintashta people, the first culture known to use chariots, in the Chelyabinsk region of Russia, some 4,100 years ago.

Recreation of a Scythian horse with ornaments and equipment. Image: Carla Schaffer/Zainolla Samashev/AAAS

By mapping and cross-examining their genomes, Orlando and his colleagues were able to reconstruct key details about the appearance, characteristics, and genetic relationships between these early domestic horses, along with insights into the animal husbandry practices of the peoples who relied on them to build their empires. (Horse domestication is generally considered to have originated about 5,500 years ago in the Eurasian steppes.)

"We wanted to target a time period where humans interacted a lot with horses," Orlando told me over Skype, "but also a time period that would be meaningful for learning about the early and late stages of horse domestication. Because of those two constraints, we decided on selecting the Scythians, because they were living at about halfway into the domestication timeline."

Much like modern domestic horses, the Scythian stallions had a range of coat colors, including black, cream, bay, chestnut, and spotted patterns. The DMRT3 gene, associated with modern ambling gaits like the rack or the two-beat trot, was not present, so these horses probably only moved with "natural gaits"walking, trotting, cantering, and galloping.

However, the team did isolate genes associated with sprinting performance in contemporary horses, suggesting that Scythians may have valued those characteristics.

Scythian Kurgan Arzhan 2 (Tuva, Siberia), 7th century BC, grave 16 and a view of the unearthed 14 horse skeletons. Image: M. Hochmuth

One of the study's major findings is that Scythians seem to have allowed their horses to maintain natural herd structures, as opposed to selectively breeding several mares with a few high-valued studs, which is the norm today with race-horses and other competitive breeds.

The genetic result is that the Scythian horses are much less inbred than modern counterparts descended from a small number of cherished lineages. This corroborates the historian Herodotus' claims that Scythians sacrificed horses that had been presented as gifts from different tribes.

"The genetic diversity that was present in the horse population has declined a lot," Orlando told me. "We breed fewer diverse horses, or more of the same exact individuals, simply because we fancied that type more."

This selective breeding during the last 2,000 years has resulted in "an almost complete homogeneity" on the Y chromosome of modern horses, which has caused deleterious mutations and has negatively impacted horse health, according to the study.

Modern Mongolian horse with yurt in background. Image: Bndicte Lepretre

But for all of the costs of domestication to the horse, the process may have ultimately saved the species. Fossil evidence suggests that Eurasian wild horse populations were collapsing at the onset of domestication, and their counterparts in the Americas were already long extinct.

"Some paleontologists have even claimed that if humans had never domesticated horses, the horse would be extinct by now, simply because it was on the verge of extinction" 5,500 years ago, Orlando said.

The intricate ways in which humans shaped horses into their modern form, and were in turn shaped by them, are at the heart of the ongoing PEGASUS research project, funded by the European Research Council and led by Orlando.

Read More: How the Last Wild Horses Can Be Saved by Cheap Gene-Sequencing

"We are interested in replicating this same study, not just for Scythians, but actually for every ancient human culture," he told me. "The main goal is to understand how the human-horse relationship evolved through space and time."

"Horses have been so essential to human history," Orlando added. "Who knows whether some particular civilization managed to build their empire because they had a superior horse? This is the type of hypothesis that we want to test. By really looking at the horse, we want to see some facets of ancient people that are generally neglected."

Subscribe to Science Solved It , Motherboard's new show about the greatest mysteries that were solved by science.

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Ancient Ritually Sacrificed Stallions Reveal How Humans Changed ... - Motherboard

(MENAFN Editorial) Human genetic market, by instruments (Accessories, Device), by end-user (Hospital, Clinic, Research center), by method (Prenatal, Molecular, cytogenetic, presymptomatic), by application (Forensic science institute) - Global Forecast 2024

Genetics is the study of genes, their functions and their effects. Among the various types of genetics such as molecular genetics, developmental genetics, population genetics and quantitative genetics, human genetics is the study that deals with the inheritance occurs in human beings. It encompasses a variety of overlapping fields such as classical genetics, cytogenetic, molecular genetics, genomics and many more.

Get a sample copy of this report at https://www.marketresearchfuture.com/sample_request/714 .

The study of human heredity occupies a central position in genetics. Much of this interest stems from a basic desire to know who humans are and why they are as they are. It can be useful as it can answer questions about human nature, understand the diseases and development of effective disease treatment, and understand genetics of human life. At a more practical level, an understanding of human heredity is of critical importance in the prediction, diagnosis, and treatment of diseases that have a genetic component.

The study of the human genes and its functions is conducted with the help of various devices such as DNA machines or USB attached sensing devices. The study of Human genetics is also engaged with advanced research, teaching and training in areas which lie at the interface of modern genetics and medicine. It also provides comprehensive clinical services, including genetic counseling for a range of genetic disorders and inborn errors of metabolism.

The growth driver includes: advancement of genetics testing technologies, rising genetic diseases, and rising awareness in terms of increasing knowledge about the potential benefits in genetic testing. Furthermore, aging population and increasing incidence of cancer cases are the other factors propelling growth of human genetics market.

The market for screening the newborns, diagnosing rare and fatal disorders, and predicting the probability of occurrence of abnormalities & diseases are likely to expand. Particularly, genetic tests to screen the newborns are expected to expand immensely over the coming years. Furthermore, the genetic disorders caused by microorganisms such Zika virus is one of the major concern behind of microcephaly. Microcephaly is a birth defect that is associated with a small head and incomplete brain development in newborns that transferred from mother to her child. Such, diseases are expected raise the application of the human genetic studies there by driving by the market. However, the high costing instruments and lack of experienced professionals are the major restraints for the growth of Human genetics market.

Complete Report of Human Genetics Industry Available at https://www.marketresearchfuture.com/reports/human-genetics-market .

Human Genetics Market Segmentation:

The Human genetics market can be segmented into by methods, by product, by applications and by end-users.

Major Human genetics market by methods: cytogenetic, molecular, presymptomatic and prenatal.

Human genetics market by product: Consumables, devices and accessories

Human genetics market by applications: research, diagnostic and forensic science and others.

Human genetics market by end-users: hospitals, clinics, research centers and forensic departments.

Human Genetics Market Regional Analysis:

The regional analysis includes North America, Europe, Asia Pacific, Middle East and rest of the world.

The global human genetic testing market expected to grow with a CAGR of more tn 10% in the upcoming years. The rise of growth rate is due to increase in technological advancement and various measures taken by US government to expand the national DNA databases.

North America:

North America is dominating the Human genetic marketdue toincreasing prevalence of diseases by genetic disorders and high technological advancement in the region followed by Europe. The rapid increase in viral infections such as Swine flues, cancer disease and various chronicle disease has increased the need of study of human genetic engineering in North America.

Asia:

The Asian region is showing good opportunities in Human genetic market because of support provided by foreign countries for enhancing forensics and DNA profiling services. Apart from this, factors such as occurrence of large number of natural disasters and awareness through forensics and DNA profiling related conferences are expected to provide required impetus for the growth of this market.

Key Players of Human Genetics Market:

Latest Trends:

The reports also covers brief analysis of Geographical Region includes:

Americas

Europe

Asia Pacific

The report onHuman Genetics Marketcomprises of extensive primary research along with the detailed analysis of qualitative as well as quantitative aspects by various industry experts, key opinion leaders to gain the deeper insight of the market and industry performance.

This report will provide the clear picture of current market scenario of Human genetic market globally as well as the country level markets. The report also provides the information about human genetic market by various methods which are used to perform the testing, by products and by applications. It also provides the detailed information about the study and research which are being performed by the forensic and diagnostic institutes and departments which will benefit the end users and global test device manufacturers and suppliers.

#Media Contact Company Name: Market Research Future Contact Person: Akash Anand Email: Phone: 1 646 845 9312 Address:Magarpatta Road, Hadapsar, Pune - 411028 Maharashtra, #India City: Pune State: Maharashtra Country: #India Website: https://www.marketresearchfuture.com/reports/human-genetics-market

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Human Genetics Industry Analysis and Global Forecast to 2024 - MENAFN.COM

"Welcome to you."

That message greets visitors to the website of 23andMe,(www.23andme.com) the company that now can market its genetic health risk (GHR) tests for 10 medical conditions directly to consumers, thanks to a recent decision by the FDA.(www.accessdata.fda.gov) The tests, part of the company's Health + Ancestry Service that costs $199, determine whether a person's genetic makeup increases the risk of such health conditions as late-onset Alzheimer's disease, Parkinson's disease, celiac disease and thrombophilia.

The FDA reviewed the 10 GHR tests through its de novo premarket review pathway,(www.fda.gov) a regulatory pathway for novel, low-to-moderate-risk devices that are not substantially equivalent to an already legally marketed device.

The agency intends to exempt additional 23andMe GHR tests from premarket review, and GHR tests from other makers also may be exempt after the maker submits its first premarket notification, said an April 6 FDA news release(www.fda.gov) announcing the decision. "A proposed exemption of this kind would allow other, similar tests to enter the market as quickly as possible and in the least burdensome way, after a one-time FDA review."

The FDA decision sets a precedent for making GHR tests for a wide variety of conditions available to consumers without a physician intermediary, said family physician and geneticist W. Gregory Feero, M.D., Ph.D., a faculty member at Maine-Dartmouth Family Medicine Residency.(www.mainedartmouth.org) He previously was chief of the Genomic Healthcare Branch of the National Human Genome Research Institute (NHGRI) and senior adviser for genomic medicine to former NHGRI Director Francis Collins, M.D., Ph.D.(www.genome.gov)

In a broader context, the FDA's decision is a natural outgrowth of the movement toward making patient data more accessible and transparent to consumers -- toward "if it's about you, you should own it," said Feero. "We'll see over time if this brings net good or net harms."

Jennifer Frost, M.D., medical director of the AAFP Health of the Public and Science Division, acknowledged that genomics is a wave of the future concept that excites people, but she said she's concerned about consumers buying the GHR tests without previous genetic counseling and without a goal in mind.

The 23andMe website encourages but does not require consumers to get genetic counseling before buying the GHR tests, and it also encourages counseling if test results reveal an increased risk for a genetically moderated condition. Unfortunately, genetic counselors aren't readily available to everyone, especially in some rural areas, Frost said.

On its website, 23andMe explains that GHR tests aren't diagnostic and that a test result indicating increased risk doesn't mean the person will definitely get the disease. But some consumers may not fully grasp that information, Frost said.

The website also suggests sharing with a health professional any test results that show an increased risk for a particular condition and talking with a physician if other risk factors for the condition are present.

"The one positive is that if buying the GHR tests encourages the person to seek out their family doctor to discuss the test results, it gives the doctor the opportunity to talk about their overall health and encourage a healthy lifestyle," Frost said. "Otherwise, I'm not sure how helpful the testing is overall."

Feero said he is concerned about consumers overinterpreting the results of GHR tests, which are somewhat but not highly predictive of one's chances for developing a given condition.

"For the most part, 23andMe's tests are single nucleotide polymorphism testing, looking for signposts for a mutation somewhere else in the gene," said Feero. "The tests are accurate for measuring for the signposts, but the issue is, is that signpost in that individual signaling a true nearby mutation with health consequences?

"Some mutations may confer only a relatively small risk increase for conditions with multiple genetic components. Multiple genes, as well as behaviors and environment, also go into risk."

Granted, 23andMe has done a fairly good job of providing information about the other factors that elevate risk, Feero said. Nevertheless, consumers may look at their test results and interpret their own risk without taking into account those other risk factors, he said.

Knowing about increased risk for a health condition could be a double-edged sword, Feero said. "People may be empowered and act in ways to help their health, or they may behave fatalistically about the information in ways that are detrimental to their health."

Another concern is that knowing about genetic risks may affect a person's ability to obtain certain types of insurance. The Genetic Information Nondiscrimination Act (GINA),(www.eeoc.gov) passed in 2008, prohibits discrimination by employers or insurance companies based on genetic information in most situations, but it does not confer protection from such discrimination by insurers providing life, long-term care or disability insurance.

To make matters worse, H.R. 1313, the Preserving Employee Wellness Programs Act,(www.congress.gov) introduced in the House in March, could erode the protections that GINA does offer. The American Society of Human Genetics has opposed the bill,(www.ashg.org) saying it would "fundamentally undermine the privacy provisions" of GINA and the Americans with Disabilities Act. In 2015, the AAFP signed onto a letter opposing a version of the bill introduced that year. That April 21 letter(5 page PDF) stated, "We strongly oppose any policy that would allow employers to inquire about employees' private genetic information or medical information unrelated to their ability to do their jobs, and penalize employees who choose to keep that information private."

"Even if sponsors of this bill and the bill itself are well intentioned, it could be used to potentially erode GINA protections," said Feero. "I do think constant vigilance for erosions is good."

As an increasing number of direct-to-consumer GHR tests are marketed, it's likely that more patients will bring test results to their doctors and ask for advice. Unfortunately, abundant literature indicates a relatively low level of genetic literacy among many types of health care professionals, including family physicians, said Feero.

Ann Karty, M.D., former medical director in the AAFP Division of Continuing Medical Education and currently the Academy's representative on NIH's Inter-Society Coordinating Committee for Practitioner Education in Genomics, which she co-chairs, offered suggestions to help FPs become better prepared for these discussions.

"As providers, we need to seek information if we don't know how to interpret these test results -- just as we would do with anything else we don't understand," said Karty. Look for educational opportunities that cover genomic topics, such as those available from the AAFP (see sidebar above), she suggested.

It's also important to figure out how to integrate the new knowledge into practice, Karty noted. When a patient wants to discuss a genetic report, for example, the office staff may want to chat with you about how to handle the situation, she said. "Do you want to see the report first and then call or meet with the patient to discuss?"

Another caveat: Make sure the appointment is long enough to deal with such a complex topic. "Ten minutes just isn't long enough," said Karty.

She advised family physicians to have a list of genetic counselors available so they can refer patients to them when needed. And whenever patients talk about direct-to-consumer products or services that pop up, find the website they reference to see what they are talking about.

Both Karty and Feero agreed on the importance of a good family history, which can help identify genetic risks. "Family history is a great place to start, and I think we do an inadequate job of asking questions in enough depth," said Feero.

Nowadays, patients self-identify items on a form when they come in, and the doctor looks at it or doesn't, Karty said. "I treasure the days when we looked at and touched the patient and did the entire history, because that helped the relationship with the patient."

She said her teaching experience with medical students and residents showed her that "the more we get behind the computer, the more we lose the touch component."

The capability to record family history information in electronic health record (EHR) systems is very limited, Karty said, with templates that don't allow you to go back further than mom and dad -- yet genetic mutations sometimes jump generations.

Feero agreed that current EHR systems are lacking in this regard. "When I arrived at the National Human Genome Research Institute in 2007, I began trying to get standardized family history across EHRs. We haven't gotten there yet."

Related AAFP News Coverage Fresh Perspectives Blog: President's Focus on Precision Medicine Could Be Catalyst for Change (2/10/2015)

USPSTF Recommends BRCA Mutation Screening for High-risk Women Only Task Force Identifies Appropriate Screening Tools FPs Can Use (4/3/2013)

GAO Report Critical of Genetic Tests Marketed to Consumers FDA Working to Regulate Products (8/11/2010)

Additional Resource Genetics/Genomics Competency Center (G2C2)(genomicseducation.net)

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FDA OKs Marketing of 10 DTC Genetic Health Risk Tests - AAFP News

April 26, 2017 Three drosophila epilines are shown. All share the same DNA sequence, but each has a unique eye color caused by transient perturbation of their epigenetic state. This perturbation alters levels of Polycomb-mediated repression of the eye color gene. Credit: Filippo Ciabrelli

Giacomo Cavalli's team at the Institute of Human Genetics (University of Montpellier / CNRS), in collaboration with the French National Institute for Agricultural Research (INRA), has demonstrated the existence of transgenerational epigenetic inheritance (TEI) among Drosophila fruit flies. By temporarily modifying the function of Polycomb Group (PcG) proteinswhich play an essential role in developmentthe researchers obtained fruit fly lines having the same DNA sequence but different eye colors. An example of epigenetic inheritance, this color diversity reflects varying degrees of heritable, but reversible, gene repression by PcG proteins. It is observed in both transgenic and wild-type lines and can be modified by environmental conditions such as ambient temperature. The scientists' work is published in Nature Genetics.

Same DNA, different color. Researchers have obtained drosophila epilinesthat is, genetically identical lineages with distinct epigenetic characteristicswith white, yellow, and red eyes respectively. They achieved this by transiently disturbing interactions between target genes and PcG proteins, which are complexes involved in the repression of several genes governing development. Cavalli and his team at the Institute of Human Genetics (University of Montpellier / CNRS) are the first to show that regulation of gene position can lead to transgenerational inheritance.

DNA is not the only medium for communicating information necessary for cell function. Cell processes are also determined by the chemical labeling (or marks) and specific spatial organization of our genomes, which are epigenetic characteristicsthat is, nongenetic but nonetheless inheritable traits. Epigenetic marks include modifications of histones, the proteins around which DNA is wound. PcG proteins, on the other hand, play a regulatory role by affecting 3-D chromosomal configuration, which establishes certain interactions between genes in the cell nucleus. The position of a gene at any given moment determines whether it is active or repressed.

Through temporary disruption of these interactions, the scientists were able to produce Drosophila epilines characterized by different levels of PcG-dependent gene repression or activation. They verified that these epilines were indeed isogenic, or genetically identical, by sequencing the genome of each. Despite their identical DNA, the integrity of epilinesand the unique phenotypic characteristics they programcan be maintained across generations. But this phenomenon is reversible. Crosses between drosophilas with over- or underexpressed genes and others having no such modifications to gene activity "reset" eye color without altering the DNA sequence, thus demonstrating the epigenetic nature of this inheritance.

The researchers then showed that new environmental conditions, such as a different ambient temperature, can affect the expression of epigenetic information over several generations, but they do not erase this information. Such transient effects of environmental factors to which earlier generations were exposed on the expression of characteristics in their progeny illustrate the unique, pliable nature of this epigenetic mechanism. By conducting "microcosm" experiments that recreated natural environmental conditions, the researchersworking with INRAconfirmed that epigenetic inheritance in Drosophila can be maintained in the wild.

Giacomo Cavalli's crew has therefore proven the existence of Polycomb-mediated stable transgenerational epigenetic inheritance dependent on 3-D chromosomal structure. Their findings offer new horizons for biomedical science. They suggest that epigenetics could partly solve the mystery of "missing heritability"that is, the absence of any apparent link between genetic makeup and certain normal hereditary traits and diseases.

Explore further: Biological mechanism passes on long-term epigenetic 'memories'

More information: Filippo Ciabrelli et al. Stable Polycomb-dependent transgenerational inheritance of chromatin states in Drosophila, Nature Genetics (2017). DOI: 10.1038/ng.3848

Journal reference: Nature Genetics

Provided by: CNRS

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Discovering a new mechanism of epigenetic inheritance - Phys.Org