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News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… - is moving from research laboratories into general medical practice. Now, two leading scientists have sketched … M.D., M.P.H., of Brigham and Women's Hospital and Harvard Medical School, Boston, note in the June 19, 2014, issue of … Biesecker, chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, predicted that about 10,000 such tests will …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… of Diabetes and Digestive and Kidney Diseases MedlinePlus Genetics Home Reference PKD Foundation American Kidney Fund …
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).
…  Can the proposed research be centered within a specialty genetics clinic? Yes, the FOAs are seeking applications that … that have a genetic mechanism. Research within specialty genetics clinics may be proposed as long as it is broadly …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… … The Center for Precision Health Research, formerly the Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related … ​ … The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… and maintain overall health. OI is best managed by a medical team including the child's own doctor, and genetic, … COL1A2 . Additional Resources on Osteogenesis Imperfecta Genetics Home Reference: Osteogenesis imperfecta Medline … Imperfecta Medscape: Osteogenesis Imperfecta Medscape: Genetics of Osteogenesis Imperfecta … What is Osteogenesis …
Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… The Genetics and Molecular Biology Branch uses state-of-the-art … from underrepresented groups … Overview … Our Research … Genetics and Molecular Biology Branch … The Genetics and Molecular Biology Branch uses genomic …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… Melissa Merideth, M.D., M.P.H. … Dr. Merideth went to medical school at Johns Hopkins University School of Medicine … where she subsequently completed a residency in Clinical Genetics at NHGRI and subspecialty fellowship training in … 2016, Dr. Merideth became the Program Director of NHGRI’s Medical Biochemical Genetics Fellowship Program, and Training …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… National Wilms' Tumor Study National Eye Institute (NEI) Genetics and Rare Diseases Information Center Finding …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… Neurofibromatosis Network Medline Plus: Neurofibromatosis Genetics Home Reference: Neurofibromatosis Type 1 Genetics Home Reference: Neurofibromatosis Type 2 Children's …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… Additional Resources for Cystic Fibrosis Information Genetics Home Reference Cystic Fibrosis Foundation Cystic … Fibrosis: Your Genes, Your Health What is Cystic Fibrosis? Genetics and Rare Diseases Information Center Finding …