Search Results
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
File
… evaluation of patients with complex neuromuscular & neurogenetic conditions without a definite diagnosis. (University of Sri …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… easy to find patients. Sometimes, we might be dealing with conditions that have only been seen in one or two dozen …
Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… our understanding of the genetic cause of Mendelian conditions and to increase the solve rate for rare disease. …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Many human diseases have a genetic component. Some of these conditions are under investigation by researchers at or …
Professional Development Programs
Meeting a JHU/NHGRI Genetic Counseling Training Program graduate will help you learn more about the program and may help when deciding whether to apply.
Clinical Research
The goal of this study is to learn more about the genetic contributions to the severity of disease of COVID-19.
… and develop. Variations in our genes can cause medical conditions and may be the reason why some people get sicker …
Profile
Reflecting on his NIH career, Dr. Smith recounts his journey from researcher to program director in a conversation with NHGRI science writer Sonja Soo, Ph.D. He looks ahead to a retirement filled with traveling, spending time with friends and family, playing pickleball and brewing ale.
… developing methods for mapping disease genes and studied conditions such as kidney failure and diabetes. Some high … where he developed genomic technologies and studied conditions such as kidney failure, HIV/AIDS and diabetes. …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
Research Funding
The E​MERGE Network develops, disseminates and applies approaches to research that combine biorepositories with electronic medical record systems.​
… Retrospective/AnVIL cloud integration Phenotyping conditions of outcome interest Provider Uptake & Outcomes … whether genome informed risk assessments for select conditions can be generated reliably across diverse … polygenic risk scores (PRS) in diverse populations for 10 conditions, combine PRS results with family history and …