Search Results
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… the diagnosis, management, and counseling of patients with genetic disorders. Combined residents gain broad experience … Medical Genetics, Clinical Genetics, Molecular Genetics, Genetic Disorders …
Clinical Research
MINI Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease.
… Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease. … may know, the therapies that a child with mitochondrial disease receives vary from person to person. Some children …
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.
… correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting … a functional copy of the NPC1 gene into mice with the disease; the treated animals were then found to have less … William J. Pavan, Ph.D., senior investigator in the NHGRI Genetic Disease Research Branch. "The gene therapy is …
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.
Fact Sheet
Sickle cell disease resources for patients
… Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … your general understanding of gene therapy for sickle cell disease. We encourage you to use these educational materials … What is Sickle Cell Disease?   National Institutes of Health (NIH)  About …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … to explore two approaches for reducing the burden of the disease. The first approach will let researchers correct the … the success of clinical trials and implementation of new genetic curative therapies, into clinical treatment," said …
Policy Issues
In 2008, the Genetic Information Nondiscrimination Act was passed into law, prohibiting discrimination by employers and health insurers.
… wonder if participating in genetics research or undergoing genetic testing will lead to being discriminated against … and cures. This page provides an overview of the Genetic Information Nondiscrimination Act (GINA) and … The Genetic Information Nondiscrimination Act (GINA) of 2008 …
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people from Ghana and Nigeria. Their study … African countries, where many African Americans derive genetic ancestry . Studying how these genomic variants … Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans …
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.
… statistical estimate of whether two genes, or a gene and a disease gene, are likely to be located near each other on a … Family Health History, Genealogy, Genetic Disease … of the relative probability that two loci (e.g., a disease-associated gene and another sequence of interest, …
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN). The UDP was organized by the National … UDP researchers the opportunity to gain new insights about genetic and biochemical mechanisms of disease, normal cell biology, biochemistry, and physiology. …