Search Results
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study is exploring the genetic factors that contribute to ADHD, with the hope of … and research studies have suggested that there may be a genetic component to this disorder. Individuals diagnosed …
Research Funding
Frequently asked questions for Investigator-Initiated Research on Genetic Counseling Processes and Practices FOAs (RFA-HG-20-048 and RFA-HG-20-049).
… Announcements ( RFA-HG-20-048 and RFA-HG-20-049 )  Can a genetic counselor consultant fulfill the need to have a person with genetic counseling experience on the team? No, a person or … experience need(s) to be an integral part of the research team including being involved in research design, …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic changes affect the structure and function of gene … A major focus of the branch's research lies in understanding how disruptions in signaling … identify and better understand pathways involved in human genetic diseases and normal development. Model systems, …
Research at NHGRI
The NHGRI Division of Intramural Research aims to advance the frontiers of genetics and genomics.
… The goal of the National Human Genome Research Institute's (NHGRI) Division of Intramural Research is to advance the frontiers of genetics and genomics. … Achieving our goals requires innovative and, at times, high-risk strategies that utilize a wide range of genomic, …
Research Training
Two-year fellowships for M.D.s and Ph.D.s in cytogenetics, biochemical genetics and molecular genetics.
… to oversee and interpret cytogenetic and molecular genetic tests important in the diagnosis and management of human genetic disorders. … Hospital in Washington, DC. Fellows also gain clinical and genetic counseling exposure by seeing patients with genetic disorders across the lifespan in various NIH centers …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… The National Human Genome Research Institute (NHGRI) offers a three-year residency … physicians to diagnose, manage and counsel patients with genetic disorders. … Genetics Residency Program exposes students to rare genetic disorders that might not be seen in a more typical …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… Dr. Stewart studies phenotypes and genetic determinants of familial tumor-predisposition … disorder. Dr. Stewart is leading a project which uses new high-throughput sequencing technologies to identify, catalog and … RS, Strauss JF, Dunaif A, Spielman RS. Fine mapping of genetic susceptibility to polycystic ovary syndrome on …
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 … at or associated with the National Human Genome Research Institute (NHGRI). … This list of genetic, orphan and rare diseases is provided for … A genetic disorder is a disease caused in whole or in part by a …
Staff
Dr. Robb Rowley is an Internal Medicine Physician and a program director for the National Human Genome Research Institute (NHGRI) Electronic Medical Records and Genomics (eMERGE) Network.
… electronic medical record (EMR) systems for large scale, high-throughput genetic research in support of implementing genomic medicine. … and a program director for the National Human Genome Research Institute (NHGRI) Electronic Medical Records and … DNA biorepositories, electronic medical record (EMR), high-throughput genetic research, genomic medicine …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and … their findings may provide new clues to underlying genetic and biochemical influences in the development of … metabolism (FOCM) pathway. They knew that abnormally high blood levels of the amino acid homocysteine are …