NIH creates Atlas of Human Malformation Syndromes in Diverse Populations

From left: Adebowale Adeyemo, M.D., Max Muenke, M.D., and Paul Kruszka, M.D. NHGRI researchers have collaborated with physicians and medical geneticists around the world to create the first Atlas of Human Malformation Syndromes in Diverse Populations. Health care providers can use the new atlas to diagnose diverse patients with inherited diseases by comparing physical traits (called phenotypes) and written descriptions of their symptoms with photos and descriptions of people with the same condition and ancestry. Read more

Video now available
Harry Potter and the Genetics of Wizarding. Speaker: Eric Spana

Dr. Eric Spana presents Harry Potter and the Genetics of Wizarding

For NHGRI's National DNA Day on April 25, Eric P. Spana, Ph.D. from Duke University presented Harry Potter and the Genetics of Wizarding, the inaugural event for the National DNA Day speaker series. The lecture is now available on NHGRI's YouTube channel, GenomeTV. Dr. Spana is an award-winning instructor in biology who helps students place new information in context with ideas they already find familiar, like Harry Potter, Star Wars and The Avenger. Watch the video

ClinGen develops new method for evaluating genomic variation and its role in disease prevention

DNA double helix, genomic and binary data A major question associated with using genomic medicine in practice is: How should doctors treat patients with disease-associated differences in their genetic code? NHGRI's Clinical Genome Resource (ClinGen), co-funded by NCI, has developed a score-based method to evaluate genomic variants that call for increased clinical focus. The guide will help clinicians decide what medical practices best prevent disease in at-risk patients. The study appears April 28th in Genetics in Medicine. Read more

The microRNA miR-22 shows potent anti-tumor role, possible therapeutic potential in acute myeloid leukemia

Translation block, proteins, micro RNAs, deadenylation New research by NHGRI scientists and others has shown that a microRNA known as miR-22 reduces the production of cancer cells in mice with acute myeloid leukemia and leukemia. MicroRNAs are small molecules involved in regulating how much a gene is turned on or off. The findings highlighted the possibility of using miR-22-based therapy to treat patients with these cancers. The study was published April 26 in the journal Nature Communications. Read more

New centers to help understand biology, improve diagnoses of rare, mysterious diseases

UDN logo The National Institutes of Health recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases. The new grants support studies to better understand the causes and development of rare diseases and improve diagnoses. The funding establishes two new research centers - a Model Organisms Screening Center and a Metabolomics Core - and six awards to explore how specific genes and their variations may cause disease in UDN patients. Read more

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