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Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… Organelle Biogenesis: Clinical and Molecular Genetics. Annual Reviews of Genomics and Human Genetics , … Ph.D. … Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research … disorders … Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research …
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. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… hospitals from 1976-80. In 1984, he completed clinical genetics and clinical biochemical genetics fellowships at the NIH's Interinstitute Medical Genetics Training Program, which he directed from … biochemical geneticists. He established American Board of Medical Specialties certification for medical biochemical …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… Genetics and genomics both play roles in health and disease. … their whole lives, eat a healthy diet, have regular medical checkups, and die of a heart attack at age 40. There … blood in newborns, circulating blood, bone marrow or skin. Medical researchers are investigating the use of stem cells …
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.​ ​
… How do I find a genetic professional? … Can knowing about genetics help treat disease? … How is genetic information … used to treat disease? … What are some concerns? … Genetics, Disease Prevention and Treatment FAQ … ​Genetic … medicine.​ ​ … Family Health History, Pharmacogenetics, Genetics, Treating A Genetic Disease, Diagnosing A Genetic …
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
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 …
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 …
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 … and their interactions with environmental factors. … Genetics is the branch of biology concerned with the study of … and their interactions with environmental factors. … Genetics is the branch of biology concerned with the study of …