Category Archives: Human Genetics

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

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

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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Newswise Genetic studies in humans, zebrafish and mice have revealed how two different types of genetic variations team up to cause a rare condition called Hirschsprungs disease. The findings add to an increasingly clear picture of how flaws in early nerve development lead to poor colon function, which must often be surgically corrected. The study also provides a window into normal nerve development and the genes that direct it.

The results appear in the April 2 issue of the American Journal of Human Genetics.

About one in every 5,000 babies is born with Hirschsprungs disease, which causes bowel obstruction and can be fatal if not treated. The disease arises early in development when nerves that should control the colon fail to grow properly. Those nerves are part of the enteric nervous system, which is separate from the central nervous system that enables our brains to sense the world.

The genetic causes of Hirschsprungs disease are complex, making it an interesting case study for researchers like Aravinda Chakravarti, Ph.D., a professor in the Johns Hopkins University School of Medicines McKusick-Nathans Institute of Genetic Medicine. His research group took on the condition in 1990, and in 2002, it performed the first-ever genomewide association study to identify common variants linked to the disease.

But while Chakravartis and other groups have identified several genetic variants associated with Hirschsprungs, those variants do not explain most cases of the disease. So Chakravarti and colleagues conducted a new genomewide association study of the disease, comparing the genetic markers of more than 650 people with Hirschsprungs disease, their parents and healthy controls. One of their findings was a variant in a gene called Ret that had not been previously associated with the disease, although other variations in Ret had been fingered as culprits.

The other finding was of a variant near genes for several so-called semaphorins, proteins that guide developing nerve cells as they grow toward their final targets. Through studies in mice and zebrafish, the researchers found that the semaphorins are indeed active in the developing enteric nervous system, and that they interact with Ret in a system of signals called a pathway.

It looks like the semaphorin variant doesnt by itself lead to Hirschsprungs, but when theres a variant in Ret too, it causes the pathway to malfunction and can cause disease, Chakravarti says. Weve found a new pathway that guides development of the enteric nervous system, one that nobody suspected had this role.

Chakravarti notes that the genetic puzzle of Hirschsprungs is still missing some pieces, and no clinical genetic test yet exists to assess risk for the disease. Most of the genetic variants that have so far been connected to this rare disease are themselves relatively common and are associated with less severe forms of the disease. The hunt continues for rare variants that can explain more severe cases.

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New Genetic Clues Emerge on Origin of Hirschsprung's Disease

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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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

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...

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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 ...

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