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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 …
Educational Resources
Autism is a developmental brain disorder characterized by impaired social interactions, communication problems, and repetitive behaviors.
… role. Autism is one of a group of related developmental conditions sometimes called the autism spectrum that affect …
Educational Resources
A family history is a record of medical information about an individual and their biological family.
… to medicine, is a record of the diseases and health conditions of an individual and that person’s biological … of having or developing certain diseases, disorders or conditions. It is often recorded by drawing a pedigree (a …
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 …
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.
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. …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
… syndrome, as related to genetics, is a group of traits or conditions that tend to occur together and characterize a …
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 …
Educational Resources
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
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… Carsten Bonnemann , Senior Investigator, Neuromuscular & Neurogenetic Disorders Of Childhood Section, NINDS 9.15 - …