Search Results
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… Dr Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI. She earned her medical degree, a Masters and PhD from the University of … recognition of errors in the design and implementation of medical nutrition therapy in MMA and cobalamin C deficiency, …
Event
Workshop highlighting accomplishments of eMERGE network and and identifying gaps, challenges and future opportunities in genomic medicine research.
… (NHGRI) hosted a program review workshop entitled eMERGE and Beyond: The Future of EHR and Genomics on October 30th, 2017.  The Electronic Medical Records and Genomics (eMERGE) network conducts … eMERGE & Beyond: The Future of Electronic Medical Records and Genomics …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… Dr. Ivona Aksentijevich obtained her medical degree from Belgrade University in the former … Research Program of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) to work as a … Research Institute (NHGRI) and continues to study the genetics of monogenic autoinflammatory diseases. Dr. …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases … The Genetic and Rare Diseases Information Center (GARD)  was created in … by the National Human Genome Research Institute (NHGRI) and the Division of Rare Diseases Research Innovation (DRDRI) …
Educational Resources
Genetic drift is a mechanism of evolution. It refers to random fluctuations in the frequencies of alleles from generation to generation due to chance events.
… Genetic Drift, Evolution, Population Genetics, Genes …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… San Francisco (UCSF), as well as professor of rheumatology and professor of orofacial sciences. Her research focuses on the genetics and epidemiology of human autoimmune disease, particularly … Genomics of Autoimmune Rheumatic Disease Section Staff … NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch. …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… Study of Patients with GNE Myopathy collects genetic and medical information from people with GNE myopathy. … Patients are followed over time to understand the symptoms and clinical course of GNE myopathy. This information is … disorder that causes progressive skeletal muscle atrophy and weakness. Previous names include hereditary inclusion …
News Release
The American Society of Human Genetics and NHGRI have teamed up to sponsor the new Genetics and Education Fellowship.
… Realizing the benefits of genomics will require an educated public who can understand the implications of genomics for their health care and evaluate the relevant public policy issues,according to … the public about the translation of genomics research into medical settings and the societal implications of this shift. …
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… the most recent 'polar vortex' becoming a distant memory and with baseball's spring training now in full swing, we … the completion of the Human Genome Project in 2003 and the discovery of DNA's double-helical structure in 1953. Watch the NHGRI DNA Day website for 2019 events and subscribe to the NHGRI DNA Day newsletter. Join in the …
Policy Issues
Most genetic tests today are not regulated, meaning that they go to market without any independent analysis to verify the claims of the seller.
… As the field of genomics advances, genetic and genomic tests are becoming more common in, and out of, the clinic. Yet most genetic tests today are not … care insurers like CMS draw on data from the research and medical communities to determine the clinical utility of …