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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.
… William J. Pavan, Ph.D., senior investigator in the NHGRI Genetic Disease Research Branch. "The gene therapy is … on gene therapy for NPC1 also has the potential to treat genetic disorders with some similar features. These might … to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: …
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 … in pediatrics, clinical and molecular genetics, metabolic diseases, and cytogenetics. Trainees spend approximately 50% … 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.
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.
15 Ways Genomics Influences Our World
Genomics is transforming how we study, diagnose and treat cancer.
… leading to a new understanding of cancer and new ways for diagnosing and treating many types of cancer. Cancer  is a group of genetic diseases that result from changes in the genome of cells in … Case Study Teaching in Science - Colon Cancer: A Case of Genetic Bad Luck? The National Cancer Institute - The …
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) is part of the Undiagnosed Disease … Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center … evaluation after acceptance in the UDP. The Undiagnosed Diseases Program pursues two goals: To provide answers to …
Fact Sheet
Sickle cell disease resources for patients
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… the success of clinical trials and implementation of new genetic curative therapies, into clinical treatment," said …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… nationwide to begin the second phase of the Undiagnosed Diseases Network (UDN). The total investment planned for the … was launched to build on the success of the Undiagnosed Diseases Program (UDP) at the NIH Clinical Center. "The UDN … information to help understand the cause of extremely rare diseases," said Anastasia L. Wise, Ph.D., program director …
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.
… Family Health History, Genealogy, Genetic Disease …