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- 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
MINC
As genomic competencies have been delineated for all nurses, this presented an opportunity to provide support to nurse leaders to become aware of, plan for, and begin to incorporate genomics into practice.
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
MINC
Use the resources to help you design an education program or policy for your setting.
… Plan Instruction Presentation Slides Free Akron Childrens: Gene Scene Autism Flyer Free Akron Childrens: Gene Scene Birth Defects Flyer Free Akron Childrens: Gene Scene CRC Flyer Free Akron Childrens: Gene Scene Heart …
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 …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… managing the symptoms of the disease. Defect in Hex-A Gene Causes Tay-Sachs: Tay-Sachs disease results from defects in a gene on chromosome 15 that codes for production of the enzyme Hex-A. We all have two copies of this gene. If either or both Hex-A genes are active, the body …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… autosomal recessive trait (a person must get the defective gene from both parents to be affected). There are several … are present, diagnosis can be made by genetic testing. Gene alterations (mutations) in the SMN1 and VAPB genes cause SMA. Having extra copies of the SMN2 gene can modify the course of SMA. Genetic testing on a blood …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… this test, a blood sample is taken to identify the altered gene (mutation) within the chromosomes which are contained within the white blood cells. Gene alterations in two genes - CNBP and DMPK - cause … dystrophy Type 1 is caused by a mutation in the DMPK gene. Type 2 myotonic dystrophy is caused by a mutation in …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… to children by parents who carry the mutated thalassemia gene. A child who inherits one mutated gene is a carrier, which is sometimes called "thalassemia … death. A child who inherits two copies of the mutated gene for beta thalassemia will have beta thalassemia disease. …