Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… genetic testing such as chromosome analysis and single-gene testing is done. … There is currently no cure for … and 'secondary,' in which a chromosome abnormality, single-gene disorder or environmental agent can be identified. … cause of autism is a chromosome abnormality or a single-gene alteration, the risk that other brothers and sisters …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… hyperthermia Treating inherited retinal disease with gene editing Validation of a clinical breast cancer risk … may have greater diagnostic utility than a targeted gene panel in sick infants New, specific gene editing may treat sickle cell disease  Read the full …
Fact Sheet
En la actualidad, la terapia génica para la enfermedad de células falciformes se considera experimental y solo está a su disposición si participa en un estudio clÃnico.
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.
Hoja Informativa
Su salud mental y su salud fÃsica están Ãntimamente conectadas. La salud mental es importante para su salud y su calidad de vida.
Health FAQ
Comente estas preguntas con su médico o su equipo del estudio clÃnico.
Fact Sheet
Diversos enfoques se dirigen a las células madre sanguÃneas para aliviar o reducir los sÃntomas de la anemia de células falciformes.
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… early age (under 50 years) we suspect that there may be a gene making this family more likely to develop the condition. … developing certain conditions. We have two copies of every gene: we inherit one copy, one member of each pair, from our … the other from our father. We then pass only one copy of a gene from each pair of genes to the next generation. Whether …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… exhibit some symptoms and 75,000 people carry the abnormal gene that will cause them to develop the disease. There is no cure for this fatal disease. A single abnormal gene produces HD. In 1993, scientists finally isolated the HD gene on chromosome 4. The gene codes for production of a …
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… age 10. Research suggests that several different types of gene mutations (changes in genes) can send faulty messages to … In most cases, the disorder is linked to a recessive gene, a gene that must be inherited from both parents in order to …