Using a novel approach that homes in on rare families severely affected by autism, a Johns Hopkins-led team of researchers has identified a new genetic cause of the disease. The rare genetic variant offers important insights into the root causes of autism, the researchers say. And, they suggest, their unconventional method can be used to identify other genetic causes of autism and other complex genetic conditions. A report on the study appears in the April 2 issue of the journal Nature. In recent years, falling costs for genetic testing, together with powerful new means of storing and analyzing massive amounts of data, have ushered in the era of the genomewide association and sequencing studies. These studies typically compare genetic sequencing data from thousands of people with and without a given disease to map the locations of genetic variants that contribute to the disease. While genomewide association studies have linked many genes to particular diseases, their results have so far failed to lead to predictive genetic tests for common conditions, such as Alzheimer's, autism or schizophrenia. "In genetics, we all believe that you have to sequence endlessly before you can find anything," says Aravinda Chakravarti, Ph.D. , a professor in the … Continue reading →

(New York - March 25, 2015) Induced pluripotent stem cells (iPSCs) -- adult cells reprogrammed back to an embryonic stem cell-like state--may better model the genetic contributions to each patient's particular disease. In a process called cellular reprogramming, researchers at Icahn School of Medicine at Mount Sinai have taken mature blood cells from patients with myelodysplastic syndrome (MDS) and reprogrammed them back into iPSCs to study the genetic origins of this rare blood cancer. The results appear in an upcoming issue of Nature Biotechnology. In MDS, genetic mutations in the bone marrow stem cell cause the number and quality of blood-forming cells to decline irreversibly, further impairing blood production. Patients with MDS can develop severe anemia and in some cases leukemia also known as AML. But which genetic mutations are the critical ones causing this disease? In this study, researchers took cells from patients with blood cancer MDS and turned them into stem cells to study the deletions of human chromosome 7 often associated with this disease. "With this approach, we were able to pinpoint a region on chromosome 7 that is critical and were able to identify candidate genes residing there that may cause this disease," said lead researcher … Continue reading →

Patricia L. Hall, Ph.D., FACMG of Emory University is the recipient of the 2015 Richard King Trainee Award for the best publication in ACMG's academic journal, Genetics in Medicine Patricia L. Hall, PhD, FACMG of Emory University is the recipient of the 2015 Richard King Trainee Award. This award was instituted by the ACMG Foundation for Genetic and Genomic Medicine to encourage ABMGG, international equivalents or genetic counseling trainees in their careers and to foster the publication of the highest quality research in ACMG's peer-reviewed journal, Genetics in Medicine (GIM). Each year the editorial board reviews all articles published in GIM by an ABMGG or genetic counseling trainee who was either a first or corresponding author during that year. The manuscript considered to have the most merit is selected by the editorial board and a cash prize, along with meeting expenses, is awarded at the 2015 ACMG Annual Clinical Genetics Meeting in Salt Lake City, Utah. Dr. Hall was given the award for her manuscript titled, "Postanalytical tools improve performance of newborn screening by tandem mass spectrometry" which was published in the December 2014 issue of Genetics in Medicine. The corresponding author was Piero Rinaldo, MD, PhD, FACMG of the … Continue reading →

Contact Information Available for logged-in reporters only Newswise (New York March 25, 2015) Induced pluripotent stem cells (iPSCs)adult cells reprogrammed back to an embryonic stem cell-like statemay better model the genetic contributions to each patient's particular disease. In a process called cellular reprogramming, researchers at Icahn School of Medicine at Mount Sinai have taken mature blood cells from patients with myelodysplastic syndrome (MDS) and reprogrammed them back into iPSCs to study the genetic origins of this rare blood cancer. The results appear in an upcoming issue of Nature Biotechnology. In MDS, genetic mutations in the bone marrow stem cell cause the number and quality of blood-forming cells to decline irreversibly, further impairing blood production. Patients with MDS can develop severe anemia and in some cases leukemia also known as AML. But which genetic mutations are the critical ones causing this disease? In this study, researchers took cells from patients with blood cancer MDS and turned them into stem cells to study the deletions of human chromosome 7 often associated with this disease. With this approach, we were able to pinpoint a region on chromosome 7 that is critical and were able to identify candidate genes residing there that may cause … Continue reading →

Photo: Chris Lund The blood of a thousand Icelanders. When the first Viking explorers began settling Iceland, none could have imagined that theirdescendants would pioneer thefuture of modern medicine by surveying the human genome. Fast forward 1000 years to today, whenanIcelandic company has revealedits success insequencing the largest-ever set of human genomes from a single population. The new wealth of genetic data has already begunchanging our understanding of human evolutionary history. It also sets the stage for a new era of preventive medicinebased on individual genetic risks fordiseases such as cancer and Alzheimers disease. Themilestone in genome sequencing comesfromdeCODE Genetics, a biopharmaceutical company inReykjavk, Iceland. Theirwork, published as four papers in the 25 March 2015 issue of the journalNature Genetics,has yielded new insights aboutthecommon human ancestor for the male Y chromosomenarrowed tosomewhere between 174,000 and 321,000 years agobased on their latest calculation of human mutation rates. Another part of their work discovered thatabout 7.7 percent of the modern-day population has rare knockout genesgenes that have beendisabled by mutations. Early research has also revealed a mutation in theABCA7gene,whichdoubles the risk of Alzheimers disease in Iceland and other populations dominated by European ancestry. These are just a handful of observations that have … Continue reading →

TIME Health medicine What We Learn When We Sequence the Genes of an Entire Nation In a genetic milestone, researchers have amassed DNA data from an entire population of people. Heres what we can learn from that information Experts say that genetic sequencing may be the future of medicine, shaping how we understand and ultimately treat disease. If thats the case, then the people of Iceland have a leg up on the rest of us. In four groundbreaking papers published in Nature Genetics, scientists from Iceland describe the results of a massive gene-sequencing effort involving 2,636 people. Because the island country is relatively isolated, its a genetic goldmine. It enjoys a founder effect, which means that most residents can trace their lineage back to a few founding fathers, and that genetic variants have been passed down from generation to generation. That makes it possible to infer the distribution of the genetic variants found in the studys 2,636 people to the remaining 325,000 Icelanders. When they did that, the researchers, led by Kari Stefansson, CEO of deCODE Genetics/Amgen, were able find mutations linked to Alzheimers disease, liver disease, thyroid disorders and atrial fibrillation. They also identified almost 8% of the population … Continue reading →