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Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… Newborn Genetic Screening … Newborn screening is testing performed on newborn babies to detect a wide variety of disorders. … Newborn Screening, Genetic Disorder, Family … on newborn babies to detect a set of known genetic diseases. Typically, this testing is performed on a blood …
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… as well as in the diagnosis, management, and counseling of patients with genetic disorders. Combined residents gain broad experience … in pediatrics, clinical and molecular genetics, metabolic diseases, and cytogenetics. Trainees spend approximately 50% …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… (MCIDGB) studies the genomic and social determinants of complex diseases. … Investigators focus, in particular, on diseases … and interpret the non-random distribution of human genetic variation, as well as to understand human history and …
Talking Glossary
Understand the terms and concepts used in genetic research
… Genetic Ancestry … Genetic ancestry refers to information about the people that an individual is biologically descended from, … … Genetic ancestry refers to information about the people that an individual is biologically descended from, …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… Jeannine Mjoseth … For the first time, National Institutes of Health (NIH) researchers have demonstrated in mice that … William J. Pavan, Ph.D., senior investigator in the NHGRI Genetic Disease Research Branch. "The gene therapy is … to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… David Conti, Alaina Vidmar, Tanya Alderete University of Southern California Longitudinal integration of … Sofer University of Illinois at Chicago Multi-Omics at the Intersections of Environment, Diabetes, and Kidney … practices, and standards that can be generalized across diseases and populations. It will also generate a …
Educational Resources
LOD stands for "logarithm of the odds." In genetics, the LOD score is a statistical estimate of whether two genes, or a gene and a disease gene, are likely to be located near each other on a chromosome.
… LOD Score … LOD stands for "logarithm of the odds." In genetics, the LOD score is a statistical … other on a chromosome. … Family Health History, Genealogy, Genetic Disease … An LOD (short for “logarithm of the odds”) …
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 inheritance, including the interplay of genes, DNA …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… Dr. Sidransky, chief of the Molecular Neurogenetics Section, is a pediatrician and … therapeutic strategies for both rare and common neurologic diseases. Over the past two decades the Sidransky group has … mechanisms, and to tackle the challenge of identifying genetic modifiers. Although GD is classically divided into …
News Release
The American Society of Human Genetics and NHGRI have teamed up to sponsor the new Genetics and Education Fellowship.
… John Daniels … Realizing the benefits of genomics will require an educated public who can understand the implications of genomics for their health care and evaluate the relevant …