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Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
… head of the Prenatal Genomics and Therapy Section for the Medical Genetics Branch at NHGRI. She oversees the research on … Boston, and her postdoctoral fellowship training in both Medical Genetics and Neonatal-Perinatal Medicine at Harvard. … for affected infants is delivery in a specialized medical center. Primarily due to three copies of chromosome …
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 …
Event
NHGRI is conducting three Zoom-based listening sessions to help gather information from the national medical genetics community regarding the current and future state of the medical geneticist workforce.
… sessions” to help gather information from the national genetics and genomics community regarding the current and … key challenges and potential solutions in clinical genetics and genomics, as well as to determine possible next … to further discuss this topic. We hope that members of the genetics and genomics community can attend at least one of …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… Study members also give us information on their family and medical histories. Finally, blood samples are taken for … answer any questions you have about the study. Family & Medical History: Our genetic counselor and nurse practitioner … work on them prior to receiving your packet in the mail. Medical Intake Form Family History Form & Instructions …
Staff
Reagan Moseti Mogire is a postdoctoral research fellow with a background in medical biochemistry, molecular biology, and genetic epidemiology.
… is a postdoctoral research fellow with a background in medical biochemistry, molecular biology, and genetic … and Biotechnology from Pan African University and a BSc in Medical Biochemistry from the University of Nairobi. In his … a two-year postdoctoral research fellowship at the Kenya Medical Research Institute-Wellcome Trust Research Programme. …
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.
Staff
Dr. Ferreira was a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… Dr. Carlos Ferreira went to medical school at the National University of Asunción, … an Internal Medicine residency at Rush University Medical Center in Chicago (2009-2012), a fellowship in Clinical Genetics at the NHGRI and Johns Hopkins Hospital Medical … Skeletal dysplasias in Latin America . American Journal of Medical Genetics part C . 2020;184(4):986-995. Ferreira CR , …
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 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.
… Center for Precision Health Research (CPHR) (formerly the Medical Genomics and Metabolic Genetics Branch) was established in 2021 as a research group … The Center for Precision Health Research, formerly the 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 …