Category Archives: Human Genetics

IMAGE:This is a diagram of chromosome shattering. view more Credit: Mirjam de Pagter The human genome can be very forgiving. When children inherit chromosomes from their parents, some minor genetic changes frequently occur with few, if any, consequences. One exception, as researchers report in the March 19 issue of the American Journal of Human Genetics, is chromosomal shattering, termed chromothripsis, which the authors found in healthy mothers who had each given birth to a severely affected child. The findings could have important implications for genetic testing and issues related to infertility. "Our study shows that despite its dramatic effects on chromosomal architecture, chromothripsis--which involves shattering of one or multiple chromosomes followed by random reassembly--does not necessarily lead to disease," says senior author Wigard Kloosterman, PhD, of University Medical Center Utrecht, in The Netherlands. "However, the presence of this phenomenon in healthy individuals impacts reproduction by leading to difficulties getting pregnant, miscarriages, and the birth of children with multiple birth defects, including intellectual disability." Dr. Kloosterman and his team studied three families whose children suffer from multiple abnormalities due to chromothripsis that they inherited from their mothers. Although the children's mothers were unaffected or only mildly affected, the women's genomes harbored … Continue reading →

For decades, evolutionists have believed that when it comes to human reproduction, it's a case of survival of the fittest. However a new study into human genetics actually shows that wealth and power play an even stronger role. AUT Professor Steve Pointing says in the last few thousand years, brawn's role in deciding which men pass down their genes is becoming less important. "If a particular organism has favourable traits for environment, it will pass on more of its genes and have more offspring than if you have less favourable traits," he explained on Firstline this morning. "But there's growing evidence now that in humans, the reverse is true we're actually dictating evolution because the wealth and power aspect of our society is actually driving evolution of our species." The research, conducted by Arizona State University, looked at the Y chromosome of 500 men worldwide. They found that between 4000 and 8000 years ago, there was a bottleneck in genetic diversity for males. At the same time, female genetic diversity was increasing rapidly implying at the time, only a few men were mating with many women. "The smoking gun for that is the change from a nomadic, hunter-gatherer society to … Continue reading →

Victor McKusick (Human Genetics) The following is an interview with Victor A. McKusick, University Professor of Medical Genetics, Johns Hopkins University School of Medicine, Baltimore. The interview was conducted by his student,... By: Conversations in Genetics … Continue reading →

The Human Genetics Unit (HGU) of the Colombo Medicine Faculty together with John Keells Research (JKR), a unit established by John Keells Holdings to carryout futuristic scientific research, announced the successful sequencing of the entire genome of goda vee - an indigenous rice variety. This is the first time that such a feat in the field of science was achieved within the country in Sri Lanka. Sequencing of goda vee was done in the only genome sequencing facility in Sri Lanka located at the HGU. Prof. Vajira H. W. Dissanayake, a member of the National Biotechnology Council of the Coordinating Secretariat for Science Technology and Innovation (COSTI) as well as the Biotechnology Committee of the National Science Foundation (NSF) said this is a unique milestone in the annals of science and technology in Sri Lanka. We have proved that Sri Lanka now has the capability to protect and preserve our biodiversity within the country. This will also open opportunities for Sri Lanka to build a new wave of scientific enterprise based on local knowledge and innovation creating wealth for the country. That would in turn create new job opportunities for Sri Lankan science graduates, most of whom now leave the … Continue reading →

TIME Health medicine Heres How 23andMe Hopes to Make Drugs From Your Spit Samples The company is making a bold move to enter the drug-making business by using the genetic information donated by its clients On March 12, 23andMe, the genetic testing company best known for analyzing your DNA from a sample of spit, announced the creation of a new therapeutics group. The groups mission: to find and develop drugs from the worlds largest database of human genetic material. Thats a huge shift for the company, which must now build a research and development arm from scratch. Richard Scheller, formerly of the biotechnology corporation Genentech, will lead the group and will also be 23andMes chief science officer. Scheller admits that for now, hes the therapeutics groups only member. But soon after he starts on April 1, he anticipates that things will move quickly, as they do in the genetics world. Thats what attracted him to 23andMe after overseeing early drug development at Genentech for 14 years. Ive seen over the last couple of years how human genetics has impacted the way Genentech does drug discovery, and I thought it might be fun and interesting to work in an unrestricted way … Continue reading →

Escherichia coli at 10,000x magnification Roger Pickup, Professor of Environment and Human Health at Lancaster University for The Conversation 2015-03-10 20:45:46 UTC We are all populated by microbes helpful or otherwise which form a community known as a microbiome. Recent research by Ryan Newton and co-workers has shown that sewage-based analysis of the human microbiome can be used to diagnose health issues at a population level. Large-scale monitoring of human populations and their activities takes many forms, from satellite imagery to censuses, providing data that can inform future policies. At this scale, we can collect and store data to assess the health of a nation. Projects such as BiobankUK and the 100,000 genomes project aim to fully describe human genetics and health at the cellular and molecular level, whilst revealing information at an individual and population level. This will result in the creation of a UK disease map, possibly linked to genetic information and factors that significantly affect health. These projects focus on the human genome yet we are not just human. Each of us is populated by microbes: bacteria, viruses, fungi and protozoa. Bacterial cells alone outnumber our own by a factor of 20. No one has estimated the … Continue reading →

IMAGE:Dr. Ian D. Krantz is the co-director of the Individualized Medical Genetics Center at The Children's Hospital of Philadelphia. view more Credit: The Children's Hospital of Philadelphia Analyzing a puzzling multisystem disorder in three children, genetic experts have identified a new syndrome, shedding light on key biological processes during human development. The research also provides important information to help caregivers manage the disorder, and may offer clues to eventually treating it. "This syndrome illuminates a very important pathway in early human development--a sort of master switch that controls many other genes," said study leader Ian D. Krantz, M.D., co-director of the Individualized Medical Genetics Center at The Children's Hospital of Philadelphia (CHOP). Krantz, a medical geneticist, is an attending physician in CHOP's comprehensive human genetics program. Krantz is the senior author of the study, published online today in Nature Genetics. His co-study leader is Katsuhiko Shirahige, Ph.D., of the Institute for Molecular and Cellular Biosciences, University of Tokyo, also the home institution of first author Kosuke Izumi. The investigators named the disorder CHOPS syndrome, with the acronym representing a group of symptoms seen in the affected children: cognitive impairment and coarse facies (facial features), heart defects, obesity, pulmonary involvement, short … Continue reading →

'Genetically Speaking' series showcases research findings, technological advances, and applications of human genetics in the evaluation, diagnosis, and treatment of health conditions BETHESDA, MD and Fort Washington, PA - The American Society of Human Genetics (ASHG) and ReachMD announced today the launch of 'Genetically Speaking', a series of audio interviews designed to educate healthcare professionals on the application of human genetics in disease prevention and management. The series features peer-to-peer interviews conducted during the ASHG 2014 Annual Meeting and includes topics such as: "One of our primary goals at ASHG is to develop a healthcare workforce that is genetics-literate and capable of interpreting and applying information in clinical practice," said Joseph D. McInerney, MA, MS, Executive Vice President of ASHG. "We are excited to team up with ReachMD to produce and deliver peer-to-peer programming to healthcare professionals nationwide." 'Genetically Speaking' is co-produced by ASHG and ReachMD and broadcast on ReachMD's integrated online, mobile, and on air content distribution network. Content is accessible both on demand and through 24/7 radio streaming on ReachMD, iHeartRadio, TuneIn, and iTunes digital platforms. "This series is an excellent addition to the ReachMD lineup," said Matt Birnholz, MD, Vice President and Medical Director of ReachMD. "Our … Continue reading →

Even if you look like your mother, an innovative study suggests that not only humans but, in fact, all mammals are genetically more like Dad. We inherit equal amounts of genetic material from each parent, yet that coming from our father's side is more likely to take action, according to the study that was published in the journal Nature Genetics. The findings have broad implications for the study of human disease, and reveal that inheriting a genetic mutation could have different consequences depending on whether it comes from Mom or Dad. "This is an exceptional new research finding that opens the door to an entirely new area of exploration in human genetics," says Fernando Pardo-Manuel de Villena, PhD, professor of genetics and senior author of the paper. Scientists have known for some time, that 95 genes express themselves differently depending upon which parent they come from, according to Dr. Pardo-Manuel de Villena, and now, this study has revealed that there are thousands of others. These genetic mutations appear in complex diseases including type 2 diabetes, heart disease, schizophrenia, obesity and many cancers. Genetically diverse mouse models that take the parent of origin into account will, from now on, provide researchers … Continue reading →

Welcome and Introduction - Treating Disease with Sugars Hudson Freeze, Ph.D. Director and Professor, Human Genetics Program Sanford-Burnham Medical Research Institute T. Denny Sanford Honorary Trustee Sanford-Burn... By: SanfordBurnham … Continue reading →