Search Results
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… Trimethylaminuria is a metabolic condition in which an individual is not able to … for centuries, but has only gained scientific recognition and support in the past 30 years. … in the person's sweat, urine, reproductive fluids, and breath, giving off a strong fishy odor. Some people with …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… The Metabolism, Infection and Immunity (MINI) Study is a longitudinal natural history … to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial … study is to understand the relationship between infection and clinical decline in patients with mitochondrial disease. …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… of the Molecular Neurogenetics Section, is a pediatrician and clinical geneticist in the Medical Genetics Branch of the National Human Genome Research … of parkinsonism. In collaboration with the NIH Chemical Genomics Center, hundred-thousands of small molecules were …
News Release
Diverse populations are still underrepresented in public genomic databases, according to a new study by researchers from the NIH and Harvard Medical School.
… by researchers from the National Institutes of Health and Partners Healthcare/Harvard Medical School.* … Bonham is also the Senior Advisor to the NHGRI Director on Genomics and Health Disparities. "Because genomic information … the study's first author and a genetics fellow at Harvard Medical School. The researchers noted that policies and …
The Genomics Landscape
In the June 2, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new and improved Talking Glossary of Genomic and Genetic Terms - one of the premier educational resources offered by NHGRI, and it aims to help users better understand the basics of genomics and genetics.
… As the heat rises and the summer arrives, you might be looking for some indoor … virtual NHGRI workshop entitled “Future Directions in Genomics and Health Equity.” The goal of the workshop was to … decrease health disparities and improve health equity in genomics. A workshop summary and video recording are …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… DNA for variations, typically performed in the context of medical care, ancestry studies or forensics. In a medical setting, the results of a genetic test can be used to …
For Teachers
The genetic timeline lesson plan gives students an historical perspective of the discoveries that led to our present understanding of the human genome.
… been fully appreciated in their lifetimes, such as Darwin and Mendel. As the student puts the events in order, he or … activity may be most effectively done at the end of a genetics unit as a review or reinforcement lesson. It likely … cut up for the lesson. Cut around the edges of the boxes and glue them separately to 4" x 6" cards. Print out the …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… cum laude in philosophy from Princeton University in 1973 and a Ph.D. and M.D. from Baylor College of Medicine by 1982. … 2011 to 2021, and continues to maintain a busy lab in the Medical Genetics Branch. Throughout his career at the NIH Dan’s … of inflammation, the elucidation of their function, and the application of these insights to the diagnosis and …
Staff
Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch.
… James Inglese directs the Assay Development and Screening Technology laboratory within the Division of … of NCATS, in 2004 Inglese co-founded the NIH Chemical Genomics Center (now at NCATS ), later acting as its deputy … Laureate Robert J. Lefkowitz, M.D., at Duke University Medical Center, investigating regulatory kinases of G …
15 Ways Genomics Influences Our World
Genomics is helping us choose the right medication at the right dose for each patient.
… Genomics is helping us choose the right medication at the … be possible without sequencing the genomes of many people and comparing their responses to medicines. One of the most … as well as other medications like statins for cholesterol and certain chemotherapy medicines. As a result, there are at …