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Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
… Wendy Introne, M.D. … Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI. She completed her M.D. from the … Medical Center in Washington, D.C.; fellowship training in clinical genetics and clinical biochemical genetics from the …
Policy Issues
Clinical research may yield new health-related information about volunteers who have chosen to participate in the studies.
… When conducting clinical research studies, scientists may discover new … that a study participant in an investigation of the genetics of heart disease possesses a gene variant related to … law regarding return of genetic IRRs and IFs is the  Clinical Laboratory Improvement Amendments of 1988 (CLIA) , …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Disease NINDS: Tay-Sachs Disease Information Page Genetics Home Reference: Tay-Sachs disease GARD: Tay-Sachs …
Talking Glossary
GMO (short for “genetically modified organism”) is a plant, animal or microbe in which one or more changes have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the characteristics of an organism.
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 … genetic information about an individual as part of their clinical care. This is in contrast to strategies to improve … that have a genetic mechanism. Research within specialty genetics clinics may be proposed as long as it is broadly …
Staff
Julie Sapp is a genetic counselor in the NHGRI in the Genomic Services Research Program (GSRP).
… of genomics into medical practice.  The diverse clinical research portfolio of the laboratory she works in … social and behavioral questions related to the practice of clinical genomics and genetic counseling.  Her work in this … these approaches to understand how best to meet the clinical demands of the expanding role of genome and exome …
Clinical Research
A study for patients with unexpected genetic results
… discover other treatable health conditions … The NIH Clinical Center is located in Bethesda, MD (near Washington, … … A study for patients with unexpected genetic results … Clinical Research …
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 … resources of NHGRI intramural laboratories, the NIH Clinical Center and intramural collaborations across NIH, the branch is engaged in basic, translational and clinical research, bringing the latest genomic and genetic …
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 …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… of OI is made on the basis of family history and/or clinical presentation. Frequent fractures, short stature, a … and 95 percent, respectively, of individuals with the clinical diagnosis of OI. Normal biochemical and molecular … COL1A2 . Additional Resources on Osteogenesis Imperfecta Genetics Home Reference: Osteogenesis imperfecta Medline …