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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Educational Resources
Diabetes mellitus is a disease characterized by an inability to make or use the hormone insulin.
… Diabetes Mellitus (Diabetes) … Diabetes mellitus is a disease characterized by an inability to make or use the … Insulin, Type II Diabetes, Type I Diabetes, Autoimmune Disease … Diabetes mellitus is a disease characterized by an inability to make or use the …
Educational Resources
A candidate gene is a gene whose chromosomal location is associated with a particular disease or other phenotype.
… whose chromosomal location is associated with a particular disease or other phenotype. … Genes, Chromosome, Phenotype, Traits, Disease, Linkage Analysis … The term candidate gene refers to … is believed to be related to a particular trait, such as a disease or a physical attribute. Because of its genomic …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
… tend to occur together and are associated with a specific disease. … Fragile X Syndrome, Genetic Variation, Genetic Testing, Genetic Disease … A syndrome, as related to genetics, is a group of … tend to occur together and characterize a recognizable disease. Some syndromes have a genetic cause. … A syndrome is …
Health FAQ
Discuss these questions with your doctor or health care provider.
… 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 … to fewer white blood cells, which puts you at a higher risk of serious infection. After the chemotherapy, you will …
Educational Resources
Cystic fibrosis is a hereditary disease characterized by faulty digestion, breathing problems, respiratory infections, and loss of salt in sweat.
… Cystic Fibrosis (CF) … Cystic fibrosis is a hereditary disease characterized by faulty digestion, breathing … infections, and loss of salt in sweat. … Hereditary Disease, Family Health History, Gene, CFTR … Cystic fibrosis … or 40s, or even longer. … Cystic fibrosis is a hereditary disease characterized by faulty digestion, breathing …
Educational Resources
Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic factors interact with the environment in the context of disease in populations.
… factors interact with the environment in the context of disease in populations. … Genetic Epidemiology, Healthcare, Medicine, Population Genetics, Genetic Disease … Genetic epidemiology is a field of science focused … factors influence human traits, such as human health and disease. In many cases, the interaction of genes with the …
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 chromosome. … Family Health History, Genealogy, Genetic Disease … An LOD (short for “logarithm of the odds”) score is … of the relative probability that two loci (e.g., a disease-associated gene and another sequence of interest, …
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
… Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or … called linkage mapping - can offer firm evidence that a disease transmitted from parent to child is linked to one or … development of more common disorders such as asthma, heart disease, diabetes, cancer, and psychiatric conditions. … To …
Educational Resources
A carrier is an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms.
… capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms. … Genetic Mutation, Genes, Alleles, … from the other parent. Any offspring of carriers is at risk of inheriting a variant allele from their parents, which …
Fact Sheet
Understanding gene therapy for sickle cell disease
… Sickle cell disease is the most common inherited blood disorder in the … only a handful of options to manage or treat sickle cell disease. Now, researchers are developing new and emerging gene therapies to treat sickle cell disease. To help navigate these new therapies, more than 50 …