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The personal genomics firm is ramping up its suite of disease-related genetic tests.

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In a small study of male twins, nine methylation sites helped researchers predict a persons sexual orientation.

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Duplication of copy number variants may be the source of greatest diversity among people, researchers find.

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By Bob Grant | July 23, 2015

Two genetic studies seeking to determine how people first migrated to North and South America yield different results.

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Researchers link variations in two genes to cases of major depressive disorder in two large cohorts.

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By Anna Azvolinsky | July 15, 2015

Scientists identify a human leukocyte antigen gene linked to immune protection from HIV following vaccination.

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A large-scale genome sequencing effort identifies mutations with disease-causing potential at higher rates than expected.

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By Anna Azvolinsky | June 5, 2015

Somatic mosaicism may be responsible for a larger proportion of genomic variability within humans than previously thought.

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By Ruth Williams | May 28, 2015

Sequence analysis of Egyptian, Ethiopian, and non-African peoples indicates a likely route taken by modern humans migrating out of Africa.

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By Ruth Williams | May 21, 2015

Replacing yeast genes with their human equivalents reveals functional conservation despite a billion years of divergent evolution.

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Recent Articles | Human Genetics | The Scientist Magazine

NPG will be exhibiting at the American Society of Human Genetics (ASHG) conference in Baltimore, USA from 6-10 October 2015. Visit the NPG stand for free copies, giveaways and more!

Volume 23, No 10 October 2015 ISSN: 1018-4813 EISSN: 1476-5438

2014 Impact Factor 4.349* 70/289 Biochemistry & Molecular Biology 36/167 Genetics & Heredity

Editor-in-Chief: G-J B van Ommen

Thank you to everyone who attended our 'How to get published' session at ESHG. For those who didn't make it, please see our presentation and booklet which we hope will help with the whole process of publishing.

European Journal of Human Genetics offers authors the option to publish their articles with immediate open access upon publication. Open access articles will also be deposited on PubMed Central at the time of publication and will be freely available immediately. Find out more from the press release or our FAQs page.

The Practical Genetics series delivers a one-stop-shop information resource for genetics clinicians.

Clinical Utility Gene Cards, commissioned by EuroGentest, bring together information on specific diseases and provide clinicians with guidance on disease characteristics and genetic testing.

Latest research highlights and reviews from the NPG family of journals

Author Benefits of publishing in European Journal of Human Genetics

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European Journal of Human Genetics

DNA

Through news accounts and crime stories, were all familiar with the fact that the DNA in our cells reflects each individuals unique identity and how closely related we are to one another. The same is true for the relationships among organisms. DNA, or deoxyribonucleic acid, is the molecule that makes up an organisms genome in the nucleus of every cell. It consists of genes, which are the molecular codes for proteins the building blocks of our tissues and their functions. It also consists of the molecular codes that regulate the output of genes that is, the timing and degree of protein-making. DNA shapes how an organism grows up and the physiology of its blood, bone, and brains.

DNA is thus especially important in the study of evolution. The amount of difference in DNA is a test of the difference between one species and another and thus how closely or distantly related they are.

While the genetic difference between individual humans today is minuscule about 0.1%, on average study of the same aspects of the chimpanzee genome indicates a difference of about 1.2%. The bonobo (Pan paniscus), which is the close cousin of chimpanzees (Pan troglodytes), differs from humans to the same degree. The DNA difference with gorillas, another of the African apes, is about 1.6%. Most importantly, chimpanzees, bonobos, and humans all show this same amount of difference from gorillas. A difference of 3.1% distinguishes us and the African apes from the Asian great ape, the orangutan. How do the monkeys stack up? All of the great apes and humans differ from rhesus monkeys, for example, by about 7% in their DNA.

Geneticists have come up with a variety of ways of calculating the percentages, which give different impressions about how similar chimpanzees and humans are. The 1.2% chimp-human distinction, for example, involves a measurement of only substitutions in the base building blocks of those genes that chimpanzees and humans share. A comparison of the entire genome, however, indicates that segments of DNA have also been deleted, duplicated over and over, or inserted from one part of the genome into another. When these differences are counted, there is an additional 4 to 5% distinction between the human and chimpanzee genomes.

No matter how the calculation is done, the big point still holds: humans, chimpanzees, and bonobos are more closely related to one another than either is to gorillas or any other primate. From the perspective of this powerful test of biological kinship, humans are not only related to the great apes we are one. The DNA evidence leaves us with one of the greatest surprises in biology: the wall between human, on the one hand, and ape or animal, on the other, has been breached. The human evolutionary tree is embedded within the great apes.

The strong similarities between humans and the African great apes led Charles Darwin in 1871 to predict that Africa was the likely place where the human lineage branched off from other animals that is, the place where the common ancestor of chimpanzees, humans, and gorillas once lived. The DNA evidence shows an amazing confirmation of this daring prediction. The African great apes, including humans, have a closer kinship bond with one another than the African apes have with orangutans or other primates. Hardly ever has a scientific prediction so bold, so out there for its time, been upheld as the one made in 1871 that human evolution began in Africa.

The DNA evidence informs this conclusion, and the fossils do, too. Even though Europe and Asia were scoured for early human fossils long before Africa was even thought of, ongoing fossil discoveries confirm that the first 4 million years or so of human evolutionary history took place exclusively on the African continent. It is there that the search continues for fossils at or near the branching point of the chimpanzee and human lineages from our last common ancestor.

Due to billions of years of evolution, humans share genes with all living organisms. The percentage of genes or DNA that organisms share records their similarities. We share more genes with organisms that are more closely related to us.

Humans belong to the biological group known as Primates, and are classified with the great apes, one of the major groups of the primate evolutionary tree. Besides similarities in anatomy and behavior, our close biological kinship with other primate species is indicated by DNA evidence. It confirms that our closest living biological relatives are chimpanzees and bonobos, with whom we share many traits. But we did not evolve directly from any primates living today.

DNA also shows that our species and chimpanzees diverged from a common ancestor species that lived between 8 and 6 million years ago. The last common ancestor of monkeys and apes lived about 25 million years ago.

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Genetics - Smithsonian's Human Origins Program

is a non-profit organization. Its aims are to promote research in basic and applied human and medical genetics, to ensure high standards in clinical practice and to facilitate contacts between all persons who share these aims, particularly those working in Europe. The Society will encourage and seek to integrate research and its translation into clinical benefits and professional and public education in all areas of human genetics.

The 2015 registration process for the European registered Clinical Laboratory Geneticist (ErCLG) by the European Board of Human Genetics has started and is open until September 15, 2015.

Information on eligibility criteria, required documents and the submission process can be found here.

Applications can be made exclusively via the new online submission tool.

11.Jun.2015

We wish to thank almost 2,700participants and over 145 exhibiting companiesand their staff for having attended the ESHG Conference in Glasgow. We hope to see you in Barcelona in May 2016.

View the following sessions as web-cast:

-Opening Plenary Session- selected talks -ESHG-ASHG Building Bridges Symposium on "Genetic testing in children" -Plenary Debate: "Should all geneticists have their genome sequenced?" -Mendel Lecture -ESHG Award Lecture

Access the streaming

Videos are nowavailable as on-demand download.

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European Society of Human Genetics: Home

Fields of Study and Research

Many general areas of research are available in the Human Genetics program:

Approximately 10 - 12 new students are admitted to the program each year. Our students interact with trainees in several other programs at Hopkins including postdoctoral fellows in Human Genetics, as well as predoctoral students in many of the other graduate programs on the School of Medicine campus including Biochemistry, Cellular and Molecular Biology (BCMB); Neuroscience; Immunology; and Cellular and Molecular Medicine (CMM).

Below are listed the courses required of all students in the program. These includes a human biology core that has been adapted from the basic medical school curriculum. The first course that incoming students will take is Genetics & Medicine: History of Ideas. In this seminar course, students revisit articles that have been the cornerstome of the evolution in the field and discuss the historical and scientific context in which such discoveries were made.

Further on, our students are required to take courses that are part of the core curriculum for BCMB and other programs on campus, where they will acquire an extensive knowledge of molecular biology, genetics of model systems, and human genetics. The introductory course in Human Genetics and three advanced genetics seminars are required, as well as basic graduate courses in Molecular Biology, Fundamentals of Genetics, Biochemistry and Cell Biology. We believe that the time spent in formal course work, although significant in the first year and a half of the program, provides our students with an excellent, broad-based foundation for careers in biomedical research.

Listed in blue boxes are those courses that are shared with other Graduate Programs in the School of Medicine. Those courses listed in a red box are specific for Human Genetics Students.

Electives available include existing courses in human biology as well as those in genetics and molecular biology. In addition, there are many other courses available in the Schools of Medicine, School of Public Health and at Homewood which may be appropriate for individualized programs. These include courses in Bioinformatics, Advanced Biostatistics and many other subject-related topics.

Research training begins soon after the student enters the program. The rotation electives are selected by the student according to his/her interests. A series of informal luncheon meetings with the faculty as well as the Human Genetics Student/Faculty retreat, held in September each year, provides the student with an opportunity to become acquainted with the research activities of each of the preceptors.

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Program Information | Johns Hopkins - Institute of Genetic ...

File photo - Hyperrealistic face of a neanderthal male is displayed in a cave in the new Neanderthal Museum in the northern Croatian town of Krapina Feb. 25, 2010.(REUTERS/Nikola Solic)

The calcite-encrusted skeleton of an ancient human, still embedded in rock deep inside a cave in Italy, has yielded the oldest Neanderthal DNA ever found.

These molecules, which could be up to 170,000 years old, could one day help yield the most complete picture yet of help paint a more complete picture of Neanderthal life, researchers say.

Although modern humans are the only remaining human lineage, many others once lived on Earth. The closest extinct relatives of modern humans were the Neanderthals, who lived in Europe and Asia until they went extinct about 40,000 years ago. Recent findings revealed that Neanderthals interbred with ancestors of today's Europeans when modern humans began spreading out of Africa 1.5 to 2.1 percent of the DNA of anyone living outside Africa today is Neanderthal in origin. [Image Gallery: Our Closest Human Ancestor]

In 1993, scientists found an extraordinarily intact skeleton of an ancient human amidst the stalactites and stalagmites of the limestone cave of Lamalunga, near Altamura in southern Italy a discovery they said had the potential to reveal new clues about Neanderthals.

"The Altamura man represents the most complete skeleton of a single nonmodern human ever found," study co-author Fabio Di Vincenzo, a paleoanthropologist at Sapienza University of Rome, told Live Science. "Almost all the bony elements are preserved and undamaged."

The Altamura skeleton bears a number of Neanderthal traits, particularly in the face and the back of the skull. However, it also possesses features that usually aren't seen in Neanderthals for instance, its brow ridges were even more massive than those of Neanderthals.These differences made it difficult to tell which human lineage the Altamura man might have belonged to. Moreover, the Altamura skeleton remains partially embedded in rock, making it difficult to analyze.

Now, new research shows that DNA from a piece of the skeleton's right shoulder blade suggests the Altamura fossil was a Neanderthal. The shape of this piece of bone also looks Neanderthal, the researchers said.

In addition, the scientists dated the skeleton to about 130,000 to 170,000 years old. This makes it the oldest Neanderthal from which DNA has ever been extracted. (These bones are not the oldest known Neanderthal fossils the oldest ones ever found are about 200,000 years old. This isn't the oldest DNA ever extracted from a human, either; that accolade goes to 400,000-year-old DNA collected from relatives of Neanderthals.)

The bone is so old that its DNA is too degraded for the researchers to sequence the fossil's genome at least with current technology. However, they noted that next-generation DNA-sequencing technologies might be capable of such a task, which "could provide important results on the Neanderthal genome," study co-author David Caramelli, a molecular anthropologist at the University of Florence in Italy, told Live Science.

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Oldest Neanderthal DNA

While it has long been recognized that genetics -- alongside environmental factors -- play a role in developing psychiatric disorders, the function of individual genes is still largely unknown. But an international, multi-disciplinary team led by Bournemouth University's Dr Kevin McGhee is aiming to uncover just that -- using fruit flies to isolate and examine the genes involved in the development of schizophrenia, with the hope of improving knowledge and treatments for the condition.

"In psychiatric genetics, a lot of time and money has been invested in large, genomewide studies to find the genes that are involved," said Dr McGhee, a Senior Lecturer in Health Sciences at Bournemouth University (BU). "Now, we want to find out what the functions of those genes are. If you can do that, the ultimate impact is that you can then design better treatments." Dr McGhee is the principal investigator of the year-long project, working alongside colleagues from the National University of Ireland, Galway and University of British Columbia, Vancouver.

Students are also playing a part in the Bournemouth University funded project, with a number of dissertation students trained to carry out lab-based examinations of the fruit flies. They will isolate and switch off genes that human data has previously indicated play a role in schizophrenia, before examining the effect on the flies' nerve cells at different life stages.

"If we can prove that it works and can be applied to human psychiatric genetics, then it helps create a cheap and easy functional model that is beneficial to everyone," explained Dr McGhee. "I believe what we find out from these genetic studies will help infer what is going on biologically, and that will ultimately lead to better treatment."

Another strand of the research will help kickstart the use of psychiatric genetic counselling in the UK. Genetic counselling -- where patients and relatives are given advice and support around the probability of developing an inherited disorder -- has long been used to assess the risks around conditions like Down's Syndrome and certain cancers.

A psychiatric genetic counselling workshop -- the first of its kind -- is being held by the research team. It will explore how best to translate the increasing knowledge about the genetics of psychiatric disorders into educational and counselling-based interventions to improve outcomes for patients and their families.

"Genetic counselling will probably expand over the next ten or 20 years and we want to put BU at the forefront, as a UK leader in the field," said Dr McGhee, adding that the workshop has already attracted interest from around the world. "I think people having that education and training to be able to explain and support people through diagnosis will lead to better treatments and help reduce that sense of stigma and guilt around psychiatric disorders."

Open access publishing is another way in which Dr McGhee believes that the wider public can benefit and learn from research projects. "Impact is really important for research and open access really helps to achieve that -- as anyone can see it, whether they are students, doctors, charities, policy makers, whoever," he said. "I think, hopefully, another impact of this work will be to better show where we are with this research, which again goes back to open access -- helping people to see that there are hundreds of markers and hundreds of genes and they each have a very small effect.

"Ultimately, we want to educate the healthcare professionals, policy makers and eventually the public -- the patients and families who suffer from psychiatric diseases -- so that they are better informed."

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The genetics of psychiatric disorders

Color Blindness - Human Genetics Assignment
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By: Emily Faris

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Color Blindness - Human Genetics Assignment - Video

BETHESDA, MD - The Genetics Society of America (GSA) and the Drosophila research community are pleased to announce the winners of the GSA poster awards at the 56th Annual Drosophila Research Conference, which took place in Chicago, IL, March 4-8, 2015. The awards were made to undergraduate, graduate, and postdoctoral scientists in recognition of the research they presented at the conference. The fruit fly Drosophila melanogaster is one of the most versatile and widely used model organisms applied to the study of genetics, physiology, and evolution--and is an effective system for studying a range of human genetics diseases.

"These early career scientists are already making substantive contributions to our field," said Adam P. Fagen, PhD, GSA's Executive Director. "Conference attendees had the opportunity to learn about some exciting research advancements from these talented scientists."

Over 1,500 researchers attended the meeting, and the winning posters were selected by a panel of leading Drosophila researchers.

The winners of the 56th Annual Drosophila Research Conference GSA Poster Awards are:

Undergraduate winners

FIRST PLACE

Jonathan Cohen, Swarthmore College, Swarthmore, PA Poster title: "The microbiota induces Pvf2 to activate the antiviral ERK pathway in the Drosophila gut." Advisor: Sara Cherry, University of Pennsylvania, Philadelphia, PA

SECOND PLACE

Ashley Kline, Butler University, Indianapolis, IN Poster Title: "Characterizing a Role for the Misshapen Kinase in Growth of the Germline Ring Canals in the Developing Egg Chamber." Advisor: Lindsay Lewellyn

THIRD PLACE

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Nine early career researchers awarded for research presented at fruit fly conference

On who we are genetically and how we define ourselves | Florin Stanciu | TEDxBucharest
What do we actually know about our origins?Does looking deep into our past, millennial heritage help us paint a clearer picture of our present or our future? Florin Stanciu | Forensics DNA...

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On who we are genetically and how we define ourselves | Florin Stanciu | TEDxBucharest - Video

AncestryDNA: New Ancestor Discoveries
AncestryDNA launched a significant technological advancement that makes discovering one #39;s family history faster and easier than ever. New Ancestor Discoveries combines the latest in...

By: Ancestry

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AncestryDNA: New Ancestor Discoveries - Video

Witnesses said Zana the apewoman had the 'characteristicsof a wild animal' She was allegedly trapped in Caucusus mountains and covered in thick hair Had 'enormous athletic power' and she could infamously outrun a horse A genetics professor has analysed DNA of six of her living descendants

By Jennifer Newton and Jay Akbar For Mailonline

Published: 07:06 EST, 4 April 2015 | Updated: 11:13 EST, 4 April 2015

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Hundreds of explorers, theorists and fantasists have spent their lives searching for the infamous 'big-foot'.

But a leading geneticist believes he has found evidence to prove that it - or rather she - could have been more than a myth.

Professor Bryan Sykes of the University of Oxford claims a towering woman named Zana who lived in 19th Century Russia - and appeared to be 'half human, half ape' - could have been the fabled yeti.

Witnesses described the six-foot, six-inches tall woman discovered in the Caucasus mountains between Georgia and Russia as having 'all the characteristics of a wild animal' - and covered in thick auburn hair.

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Apewoman who could outrun a horse was 'not human', according to DNA tests

BETHESDA, Md., April 2, 2015 /PRNewswire-USNewswire/ -- At its 2015 ACMG Annual Clinical Genetics Meeting in Salt Lake City, the American College of Medical Genetics and Genomics (ACMG) announced the election of five new directors to its Board. Members of the ACMG Board of Directors serve as advocates for the ACMG and for forming and advancing its policies and programs. ACMG is the national organization for the medical genetics profession.

"It's an eventful time in medical genetics and genomics. We are excited to add these outstanding individuals to our Board," said Michael S. Watson, PhD, FACMG, ACMG Executive Director. "The College's Board consists of experienced and skilled individuals with diverse medical backgrounds within genetics to represent the broad range of work that our members do. Each new Board member brings singular talents, insights, and experience that will enhance the College's mission."

The five newly-elected directors will serve six-year terms from April 2015 to March 2021.

Louanne Hudgins, MD, FACMG:President-Elect

ACMG President-elect Dr. Louanne Hudgins received her MD from the University of Kansas. She completed her internship/residency in Pediatrics and her fellowship in Human Genetics at the University of Connecticut. Dr. Hudgins is board certified in medical genetics. She is currently Professor of Pediatrics and Chief of the Division of Medical Genetics at Stanford University Medical Center. She is also Director of Perinatal Genetics and Service Chief for Medical Genetics at Lucile Packard Children's Hospital Stanford. She has been the Mosbacher Family Distinguished Packard Fellow at the Stanford University School of Medicine, Department of Pediatrics since 2008. Known as an outstanding teacher and mentor, she also earned the "Excellence in Teaching Award" at Stanford University School of Medicine in 2004 and 2009-2010.

Dr. Hudgins has been very active in the ACMG serving on the ACMG Board of Directors (2002-2009) and as VP for Clinical Genetics (2007-2009). She has also served on several committees: Dysmorphology Subcommittee (1997-2000); Governance Committee (2008-2009); Co-Chair, Professional Practice and Guidelines Committee (2003-2007); Maintenance of Certification Committee (2005-2012). Additionally, Dr. Hudgins has been involved in national and international professional activities including the American Academy of Pediatrics, the American Board of Genetic Counseling, the National Board of Medical Examiners, the NIH/NHGRI Special Emphasis Review/Panel, the American Society of Human Genetics and the International Congress of Human Genetics.

Dr. Hudgins' specialties include prenatal screening and diagnosis, dysmorphology, and general clinical genetics. She has authored more than 100 peer-reviewed and invited publications. She recently co-edited the book Signs and Symptoms of Genetic Conditions: A Handbook.

Tina M. Cowan, PhD, FACMG:Director, Biochemical Genetics

Dr. Cowan received both her BA and PhD degrees in Biology from the University of California, Los Angeles. Dr. Cowan completed her postdoctoral training at the University of Maryland, Baltimore, and is ABMGG-certified in Biochemical/Molecular Genetics and Medical Genetics. Following training she joined the faculty at the University of Maryland, Division of Human Genetics, where she was co-director of the Biochemical Genetics Laboratory. She is currently Associate Professor of Pathology at Stanford University and Director of the Clinical Biochemical Genetics Laboratory, as well as Laboratory Training Director for ABMGG-accredited training in biochemical genetics for both the Stanford and UCSF programs.

Dr. Cowan was a member of the ACMG Laboratory QA committee (Vice-Chair 2010-2012) and Biochemical Genetics Subcommittee (Chair 2008-2012), as well as the ACMG ACT Sheet and Confirmatory Algorithms Workgroup. She served on the ABMGG Board of Directors from 2006-2011 (President 2011), and is a member of the CAP/ACMG Biochemical and Molecular Genetics Resource Committee (Biochemical Genetics).

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American College of Medical Genetics and Genomics Announces New Board Members: Dr. Louanne Hudgins is ACMG President ...

The first human trials of a designed-in-Canada Ebola vaccine suggest it is safe and triggers a rapid immune response, studies published Wednesday reveal.

The work, based on six different clinical trials in the United States, Switzerland, Germany, Gabon and Kenya, found the vaccine quickly generates antibodies in people who receive it. Whether those antibodies protect against infection remains to be seen, but early evidence suggests that is a strong possibility.

The vaccine is called rVSV-ZEBOV and was designed by scientists at the National Microbiology Laboratory in Winnipeg, part of the Public Health Agency of Canada. It is being developed by U.S. biotech NewLink Genetics and pharma giant Merck.

Published in the New England Journal of Medicine, the research describes Phase 1 clinical trials and shows for the first time what happens when this vaccine is given to a number of people.

Phase 1 trials are designed to show if an experimental product is safe and to help determine what an appropriate dose should be. They are too small to answer the question: Does this vaccine work?

It is hoped the answer will come from larger Phase 3 trials currently underway in West Africa.

The research, grouped into two reports, shows people who received the vaccine started to generate antibodies quickly. That is an attractive feature in a vaccine that would be used to quell future Ebola outbreaks, if it makes it through the licensing process.

There were pretty positive signals of immunogenicity at 14 days post vaccination across both of the (vaccine) doses that are reported, said Col. Stephen Thomas, a senior author of the article describing the findings of the two U.S. trials. Those two trials were conducted at the Walter Reed Army Institute of Research and the U.S. National Institute of Allergy and Infectious Diseases, both located in Bethesda, Md.

By Day 28, all the vaccinated volunteers had shown an antibody response.

The article reporting on data from the European and African trials revealed that blood from vaccinated subjects contained antibodies that neutralized or killed Ebola virus a finding that adds weight to the belief that this vaccine should protect against infection.

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First human studies promising for made-in-Canada Ebola vaccine

Researchers have identified a new genetic mutation at the heart of a severe and potentially deadly seizure disorder found in infants and young children. The finding, which was reported today in the journal American Journal of Human Genetics, may help scientists unravel the complex biological mechanism behind these diseases.

"These findings allow us to open up what was, up to this point, a 'black box' and more fully understand the biological pathways associated with these disorders and why some individuals do not respond to treatment," said Alex Paciorkowski, M.D., an assistant professor of Neurology at the University of Rochester Medical Center (URMC) and lead author of the study.

Epileptic seizures are the result of bursts of electrical activity in the brain caused when groups of neurons fire in an abnormal pattern. The study out today focuses on a severe form of seizure disorders - early myoclonic encephalopathy, Ohtahara syndrome, and infantile spasms - collectively referred to as developmental epilepsies. These seizures appear early in life, in some instances hours after birth, and can be fatal. Individuals with the condition who survive beyond infancy will often struggle for the rest of their lives will developmental disabilities, autism, and uncontrollable seizures.

The researchers analyzed the genetic profiles of 101 individuals with developmental epilepsy and were able to identify a mutation in a gene called salt-inducible kinase 1 (SIK1), a gene previously unidentified with the disease and one which the researchers believe plays a role in a chain reaction of gene and protein interactions in neurons that contribute to seizures.

The link between the SIK1 mutation and developmental epilepsy was made possible through the intersection of genetics, neurobiology, and high performance computing. In the latter case, the researchers utilized a supercomputer cluster at the University of Rochester that allowed the scientists to sift through enormous sets of genetic information quickly and more efficiently.

"High performance computational capabilities were key to this research and enabled us to analyze essentially the full genetic profile - more than 20,000 genes - for each study subject and simultaneously compare the results with data from other families," said Paciorkowski. "In the past, this type of analysis would have taken months of computing time to accomplish. We can now get results in a matter of days."

Once the mutation was identified, the researchers worked with neurobiologists in the URMC lab of Marc Halterman, M.D., Ph.D., and were able to identify the downstream impact of the mutation, namely that it regulated another gene that has been associated with severe seizures called myocyte-specific enhancer factor 2C (MEF2C).

While the biological chain of events caused by the mutation is not fully understood, the researchers believe that malfunctioning SIK1 and MEF2C genes interfere with the cellular machinery in neurons that that are responsible for guiding proper development, namely, the growth, maintenance, and maturation of synapses, the connections that allow neurons to communicate with their neighbors.

Using an array of experiments, including in brain tissue from an affected individual, Paciorkowski and colleagues showed that the proteins created by the mutated SIK1 did not behave normally. In healthy cells, the proteins eventually make their way from the cytoplasm into the cell's nucleus and, once there, help "instruct" the cell to carry out specific functions. The researchers observed that the proteins created by mutated SIK1 genes remained stuck in the cytoplasm.

While the finding sheds light on the biological mechanisms of these diseases, it may also guide treatment in the near future. The primary drug used to treat developmental epilepsy is adrenocorticotropic hormone (ACTH). However, the drug is ineffective in about 40 percent of cases. ACTH is also very expensive and has significant, including life-threatening, side effects. The hormone is known to regulate SIK1 levels. The new finding may enable researchers to better identify which individuals are more likely to benefit from the treatment.

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Study finds new genetic clues to pediatric seizure disorders

The Broad Institute of MIT and Harvard have expanded their collaboration with Bayer HealthCare to include cardiovascular genomics and drug discovery. The goal of this new part of the alliance is to leverage insights from human genetics to help create new cardiovascular therapies.

"It is exciting to be expanding on our ongoing, successful partnership with Bayer in oncology," said Professor Eric Lander, President and Director of Broad Institute. "We are looking forward to a fruitful collaboration combining Bayer's expertise in the cardiovascular therapeutic area with Broad's deep knowledge of genomics and biology".

Cardiovascular genomics is an emerging field of cardiology that uses genomic information to characterize disease risk and identify new therapeutic targets for drug discovery. Cardiovascular disease is responsible for approximately one-third of all deaths worldwide each year. While a majority of cardiovascular disease can be associated with lifestyle factors such as tobacco consumption, diet, and level of physical activity, risk genes can influence the predisposition to cardiovascular disease, age of onset, and severity.

"We are excited to broaden our collaboration with the Broad Institute to the area of cardiovascular genomics to discover genes and mutational changes underlying cardiovascular disorders in order to develop new therapies and diagnostic options for these diseases," said Prof. Andreas Busch, Head of Global Drug Discovery and member of the Executive Committee of Bayer HealthCare. "We have been collaborating already for the last two years and have developed a very constructive partnership during this time."

As part of this strategic alliance, Broad Institute and Bayer HealthCare will collaborate on genetic discovery, target validation, and drug discovery activities. Governance for this alliance will be comprised of a joint steering committee and joint research committee that will oversee research progress and direction. Financial terms of the agreement were not disclosed.

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About the Broad Institute of MIT and Harvard

The Eli and Edythe L. Broad Institute of MIT and Harvard was launched in 2004 to empower this generation of creative scientists to transform medicine. The Broad Institute seeks to describe all the molecular components of life and their connections; discover the molecular basis of major human diseases; develop effective new approaches to diagnostics and therapeutics; and disseminate discoveries, tools, methods and data openly to the entire scientific community.

Founded by MIT, Harvard and its affiliated hospitals, and the visionary Los Angeles philanthropists Eli and Edythe L. Broad, the Broad Institute includes faculty, professional staff and students from throughout the MIT and Harvard biomedical research communities and beyond, with collaborations spanning over a hundred private and public institutions in more than 40 countries worldwide. For further information about the Broad Institute, go to broadinstitute.org.

About Cardiology at Bayer

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Broad, Bayer expand partnership to develop therapies for cardiovascular disease

'Dialogue' by Anna Leoniak and Fiann Paul, a 2008 Reykjavk Arts Festival exhibit featuring photographs of children from Icelandic rural areas.

An Icelandic genetics firm has sequenced the genomes of 2,636 of its countrymen and women, finding genetic markers for a variety of diseases, as well as a new timeline forthe paternal ancestor of all humans.

Iceland is, in many ways, perfectly suited to being a genetic case study. It has a small population with limited genetic diversity, a result of the population descending from a small number of settlersbetween 8 and 20 thousand, who arrived just 1100 years ago.It also has an unusually well-documented genealogical history, with informationsometimes stretching all the way back to the initial settlementof the country. Combined with excellent medical records, it'sa veritable treasure trove for genetic researchers.

The researchers at genetics firm deCODE compared the complete genomes of participants with historical and medical records, publishing their findings in a series of four papers in Nature Geneticslast Wednesday. The wealth of data allowed them to track down genetic mutations that are related to a number ofdiseases, some of them rare. Although few diseases are caused by a single genetic mutation, a combination of mutations can increase the risk for certain diseases. Having access to a large genetic sample with corresponding medical data can help to pinpoint certain risk-increasing mutations.

Among their headline findings was the identification of the gene ABCA7 as a risk factor for Alzheimers disease. Although previous research had established that a gene in this region was involved in Alzheimers, this result delivers a new level of precision. The researchers replicated their results in further groups in Europe and the United States.

Also identified was a genetic mutation that causes early-onset atrial fibrillation, a heart condition causing an irregular and often very fast heart rate. Its the most common cardiac arrhythmia condition, and its considered early-onset if its diagnosed before the age of 60. The researchers found eight Icelanders diagnosed with the condition, all carrying a mutation inthe same gene,MYL4.

The studiesalso turned up a gene with an unusual pattern of inheritance. Itcauses increased levels of thyroid stimulation when its passed down from the mother, but decreased levels when inherited from the father.

Genetic research in mice often involves knocking out or switching off a particular gene to explore the effects. However, mouse genetics arent a perfect approximation of human genetics. Obviously, doing this in humans presents all sorts of ethical problems, but a population such as Iceland provides the perfect natural laboratory to explore how knockouts affect human health.

The data showed that eight percent of people in Iceland have the equivalent of a knockout, one gene that isnt working. This provides an opportunity to look at the data in a different way: rather than only looking for people with a particular diagnosis and finding out what they have in common genetically, the researchers can look forpeople who have genetic knockouts, and then examine their medical records to see how their missing genes affect their health. Its then possible to start piecing together the story of how certain genes affect physiology.

Finally, the researchers used the data to explore human history, using Y chromosome data from 753 Icelandic males. Based on knowledge about mutation rates, Y chromosomes can be used to trace the male lineage of human groups, establishing dates of events like migrations. This technique has also been used to work out when the common ancestor of all humans was alive. The maternal ancestor, known as Mitochondrial Eve, is thought to have lived 170,000 to 180,000 years ago, while the paternal ancestor had previously been estimated to have lived around 338,000 years ago.

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2,636 Icelandic genomes pinpoint risk for Alzheimers, other diseases

Learning from Traditional Societies
An expert discusses his study of traditional native societies, which shows how human genetics have not adapted to change.

By: Radio Health Journal

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Learning from Traditional Societies - Video

While most of us recover from influenza after a week, it can be a very severe disease, and even fatal in rare cases, with no reason for physicians to have expected such an outcome. By analysing the genome of a little girl who contracted a severe form of influenza at the age of two and a half years, researchers at the Laboratory of Human Genetics of Infectious Diseases (a joint French-American international laboratory), which brings together researchers from Inserm, Paris Descartes University, and physicians from the Paris public hospitals (AP-HP; Necker Hospital for Sick Children), working at the Imagine Institute, and from The Rockefeller University in New York, have discovered that she has a genetic mutation, unknown until now, that causes a subtle dysfunction in her immune system. More generally, these results show that genetic mutations could be the root cause of some severe forms of influenza in children, and indicate in any event that immune mechanisms missing in this little girl are needed for protection against this virus in humans. These results are published in the journal Science.

Seasonal influenza is an acute viral infection caused by the influenza virus. It is characterised by high fever, headaches, sore muscles, etc. Apart from vaccination, there is no treatment for it other than symptomatic (pain) treatment. In most cases, patients recover after a week, but in more vulnerable people influenza can cause acute respiratory distress, which is potentially fatal.

The main known risk factors for severe forms of influenza are some acquired comorbidities, such as chronic lung disease. However, the cause of most fatal cases remains unexplained, especially in children.

The absence of cases of severe influenza in patients with known acquired immunodeficiencies, which usually increase susceptibility to infections, is also surprising.

Given these different observations, the researchers at Jean-Laurent Cassanova's and Laurent Abel's laboratory, in Paris and New York, therefore formulated a hypothesis whereby severe influenza in healthy children might be the result of genetic errors.

To test this hypothesis, they sequenced the entire genome of a 7-year-old child who had contracted a severe form of influenza (influenza A virus strain H1N1), requiring her admission to a paediatric intensive care unit in January 2011, at the age of two and a half years. At the time, she showed no other known pathology that might have suggested greater vulnerability to the virus than that of other children.

This analysis, combined with analysis of her parents' genomes, made it possible to show that the little girl had inherited a mutated allele of the gene encoding interferon regulatory factor (IRF7) from both of her parents. The latter is a transcription factor known to amplify the production of interferons in response to viral infection in mice and humans.

In contrast to her parents, in whom the mutation of a single allele of the gene is of no consequence, in the little girl, mutation of both alleles of the gene encoding IRF7 has led to its inactivation. The result: failure to produce interferons, disrupting her system of defence against influenza virus infection in a cascading manner.

By carrying out a comprehensive series of experiments on blood cells, particularly dendritic cells, and by generating lung cells from stem cells taken from the young girl, the researchers provided proof that the mutations observed in this little girl explain the development of severe influenza. Furthermore, this discovery demonstrates that interferon amplification dependent on IRF7 expression is needed for protection against influenza virus in humans. They now need to search for mutations in this or other genes in other children recruited following an episode of unexplained severe influenza.

Based on these initial observations, the researchers at Inserm believe that therapeutic strategies based on recombinant interferons, available in the pharmacopoeia, could help to combat severe forms of influenza in children.

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What if the severity of our seasonal influenza were related to our genetic background?

Human Genetics Lab Part 3 Vid
Color-blindness.

By: Laura Anna See

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Human Genetics Lab Part 3 Vid - Video