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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
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… OI type VII is caused by recessive mutations in the CRTAP gene. … Osteogenesis imperfecta (OI) causes bones to be … COL1A1 and COL1A2 is used to identify the type I collagen gene mutation responsible for the altered collagen protein. … egg or sperm or very early embryo in the COL1A1 or COL1A2 gene. In the milder forms of OI, 25-30 percent of cases occur …
Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
… cancer, diabetes, heart disease and joint disease. The gene that causes hereditary hemochromatosis, called HFE, was … Most cases of HH result from a common mutation in this gene, known as C282Y. But other mutations that cause this … as H63D. A child who inherits two copies of a mutated gene (one from each parent) is highly likely to develop the …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… (CT scan) and blood tests to detect defects in the NF1 gene. For NF2, doctors will pay close attention to hearing … of the disorder, but do not yet have the symptoms. Still, gene tests have no way of predicting the severity of NF1 or NF2. Genetic testing is performed by either direct gene mutation analysis and/or linkage analysis. Mutation …
News Release
Researchers identified connections in the brain that children with attention deficit hyperactivity disorder (ADHD) may inherit from their parents.
… exact genes involved. There does not seem to be a single gene that causes ADHD. Rather, it seems that many genes act …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… disease is caused by changes (mutations) in a single gene called GBA . Mutations in the GBA gene cause very low levels of glucocerebrosidase. A person … who has Gaucher disease inherits a mutated copy of the GBA gene from each of his/her parents. Gaucher disease occurs in …
MINC
Each clinical setting is unique. Strategies that will work in your environment can be used to design your interventions based on suggested options from the Champions.
…  Create a time for the initiative such as Year of the Gene or Nurses Week  February Heart Health Poster Akron Childrens: Gene Scene Heart  National Family History Day Hunterdon … Healthcare: Research Day  Bulletins/Newsletters  Gene splash (South Shore)  Gene Strand (Central DePage) …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… inheritance means that a person has two copies of the gene that is altered. Usually, each parent of an individual who has PKU carries one copy of the altered gene. Since each parent also has a normal gene, they do not show signs or symptoms of PKU. Gene …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… or phosphorous. The enzyme is coded for by the FMO3 gene. Trimethylaminuria may be caused by a variety of genetic changes to the FMO3 gene. Not all of the functions of the FMO3 enzyme are known, … in other words, they both carry one copy of an altered gene for FMO3. Since this condition usually requires two …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… The technique has identified causative or contributory gene variants in a host of diseases, including … that seem to be the result of variants in a single gene. Physicians should explore family history-the presence … On average, about 25 percent of such tests identify a gene variant that causes disease; most come up empty. Because …
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.
… problem can be traced to mutations (changes) in a single gene. Such diseases are referred to as rare, genetic … cancers (See: Learning About Breast Cancer ), and the FAP gene, in which mutations increase the risk for hereditary …