Using facial analysis software, researchers with the National Human Genome Research Institute (NHGRI) and their collaborators successfully diagnosed Noonan syndrome in Africans, Asians and Latin Americans. Noonan syndrome will become part of the Atlas of Human Malformation Syndromes in Diverse Populations, a free online tool that helps healthcare providers better recognize and diagnose rare diseases in non-Europeans. The findings were announced in the September 2017 issue of the American Journal of Medical Genetics.
Three students from this year's NIH Summer Internship Program in Biomedical Sciences share their experience spending the summer working on The Atlas of Human Malformation Syndromes in Diverse Populations, an online resource that helps healthcare providers diagnose patients from geographically diverse regions of the world. Thousands of applicants compete for spots in the program, which places interns at NHGRI and other institutes to conduct basic and clinical research.
NHGRI's Division of Intramural Research will present the 13th Jeffrey M. Trent Lecture in Cancer Research Wednesday, Sept. 6, 2017, at the Lipsett Amphitheater, Building 10, NIH. Katherine A. Janeway, M.D., MMSc, the clinical director of the Solid Tumor Program at Dana Farber-Boston/Children's Cancer and Blood Disorders Center, will deliver the lecture Bringing Genomics to the Pediatric Oncology Clinic: Diagnosis, Treatment Selection and Rational Clinical Trial Design.
Non-invasive prenatal screening is one of the great success stories of genomics research. Now, a new NHGRI study has found that extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities in fetal growth. This approach may also reduce false positive results for Down syndrome and other common conditions. Findings were published online today, August 30, in Science Translational Medicine
NIH's Undiagnosed Diseases Network (UDN) recently released five funding opportunities that continue research in improving the level of diagnosis and care for patients with undiagnosed diseases. Pending the availability of funds and sufficient applications, the program expects to create a coordinating center, 8-10 clinical sites and 3-6 core laboratories to focus on model organisms, DNA sequencing and metabolomics.