Search Results
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
… of the entire human genome, has greatly advanced genetics research. The improved quality of genetic data has …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
​
… Organelle Biogenesis: Clinical and Molecular Genetics. Annual Reviews of Genomics and Human Genetics , 9:359-86. 2008. [ PubMed ] Klootwijk R.D., … transcripts targeted primarily to mitochondria. Molecular Genetics and Metabolism , 100: 149-154. 2010. [ PubMed ] …
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… born with serious organ defects and other life-threatening medical conditions, although most individuals with cri du … from a team made up of the parents, therapists, and medical and educational professionals to help the child … or lost. Balanced translocations usually do not cause any medical problems; however, they can become unbalanced as they …
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
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.
… Human Genome Research Institute (NHGRI) Electronic Medical Records and Genomics (eMERGE) Network. The national … Network combines DNA biorepositories with electronic medical record (EMR) systems for large scale, high-throughput … management, where he provided clinical assessments and medical care for adult diseases influenced by genetically …
Professional Development Programs
The National Institutes of Health (NIH) seeks qualified physicians, physician assistants, nurse practitioners, pharmacists, and genetic counselors interested in acquiring credentials and experience to lead genomic medicine research and implementation programs at the NIH, major medical centers, and other organizations.
…  The level of exposure to great leaders in the field of genetics and genomics has been incredible. For a person like … position: Visiting Assistant Professor, Department of Medical and Molecular Genetics, Indiana University School of Medicine … research and implementation programs at the NIH, major medical centers and other organizations. Location: Bethesda, …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… Can knowing about genetics help treat disease? … Genetics, Disease Prevention and Treatment FAQ … Family Health History, Pharmacogenetics, Genetics, Treating A Genetic Disease, Diagnosing A Genetic …
Talking Glossary
Genetics is the branch of biology concerned with the study of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors.
… Genetics … Genetics is the branch of biology concerned with the study of … Genetics is the branch of biology concerned with the study of … Genetics is the branch of biology concerned with the study of …
Policy Issues
In 2008, the Genetic Information Nondiscrimination Act was passed into law, prohibiting discrimination by employers and health insurers.
… Many Americans wonder if participating in genetics research or undergoing genetic testing will lead to being discriminated against based on their genetics. These questions may be the basis for why or why not patients decide to take genetics-based clinical tests or volunteer to participate in …
Media Availability
Type 2 diabetes is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain poorly understood.
… to develop it in their lifetime. Previous studies into the genetics of diabetes risk have identified over 80 areas in … . National Institutes of Health (NIH) : NIH, the nation's medical research agency, includes 27 institutes and centers … and supporting basic, clinical and translational medical research, and is investigating the causes, treatments …