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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
Prostate cancer is a disease where certain cells in the prostate become abnormal and multiply to form a tumor.
… bladder. … Age: A man's age is the strongest risk factor for prostate cancer. It is rare for a man to develop prostate cancer before the age of 40. … and hormone treatment is no longer working. Additional Resources of Information on Prostate Cancer Medline Plus: …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… to protect him from infections. He lived in such isolators for nearly 13 years. David died in 1984 following an … white blood cells of two young girls to compensate for the genetic mutation. These pioneering patients are still … of these life-saving cells for clinical use. Additional Resources for Information on SCID NCBI Bookshelf: Severe …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… COL1A2 .The COL1A1 and COL1A2 genes provide instructions for making proteins that are used to create a larger molecule … to be fragile and easily broken and is also responsible for other health problems. Type I OI is the mildest form of … in genes other than COL1A1 and COL1A2 . Additional Resources on Osteogenesis Imperfecta Genetics Home Reference: …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… determined which genes on the X chromosome are responsible for most signs and symptoms of Turner syndrome. They have, … however, identified one gene called SHOX that is important for bone development and growth. Missing one copy of this … cells have only one. This is called mosaicism. Additional Resources for Turner Syndrome NICHD: Turner Syndrome Genetics …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… cause of this form of NF has not been found. … Symptoms for neurofibromatosis type 1 include: Presence of light brown … of other bones in the skeletal system. Symptoms for NF1 vary for each individual. Those that are skin-related … other two that will yield an unaffected child. Additional Resources for Neurofibromatosis NINDS Neurofibromatosis …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… first noted in a group of people who had positive tests for syphilis without signs of infection. It was then noticed … individuals who continued to have false-positive tests for syphilis went on to develop systemic lupus erythematosus … determine a personalized course of management. Additional Resources for APS APS Foundation of America, Inc. National …
Genetic Disorders
Breast cancer is the second most common cancer in women after skin cancer.
… the first gene associated with breast cancer - BRCA1 (for BReast CAncer1) was identified on chromosome 17. A year … that three specific mutations in these genes accounted for 90 percent of the BRCA1 and BRCA2 variants within this … gene, but rather by many genes, each accounting for a small fraction of breast cancers. In Learning About the …