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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… of SMA will live much longer but they may need extensive medical support. The current treatment for SMA involves … loss. Today, much can be done for SMA patients in terms of medical and in particular respiratory, nutritional and …
MINC
Assessing your own work environment is a starting point for deciding who will be involved, what is needed, and establishing a plan of action.
… with the background or knowledge of genetics and genomics that could be included?  What type of expertise and … complete a personal assessment of their own genetics and genomics learning needs. A sample assessment  is included … seen and interventions provided (i.e., acute, surgical, medical)  Diversity of your service area  Age  Ethnicity  …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… people suffering from neglected diseases. For their part, medical researchers are searching for less costly drugs for …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… the infant is referred to a pediatric cardiologist for medical management or to a pediatric cardiac surgeon for …
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, …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… with donor embryos may be possible. Having appropriate medical treatment and support allows a woman with Turner …