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- Multi-Omics for Health and Disease (Multi-Omics)1
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- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
For Health Professionals
Archives of ISCC-PEG webinars, articles, case studies and more.
Genetic Disorders
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
… HPE is, or is not, likely to occur again in a family. The risk of reoccurrence is small in most families. There are a …
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… proteins and fats (lipids) properly. People with this disease can't change, or "metabolize," a substance called … will be affected with methylmalonic acidemia. Once an at-risk sibling is known to be unaffected, the chance of his/her … are increased for close family members, generally the risk of children of siblings and aunts/uncles having MMA is …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… high levels of phenylalanine during pregnancy are at high risk for having babies born with mental disability, heart …
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… (about 100 to 300), including patients with the particular disease, to see if the drug or treatment is effective, and to … may result in a new treatment for a deadly or debilitating disease. Before you agree to participate in a study, you must … of common disorders such as cancer, diabetes, and heart disease, as well as less common conditions such as Marfan …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… ( sequencing ). Together these two methods can detect the disease causing changes in about 95% of patients. Those … the prenatal testing options for pregnancies at increased risk are available when the DMD disease-causing mutation has been identified in a family …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… spinal cord and/or upper airway obstruction increases the risk of death in infancy. People with achondroplasia commonly …
Genetic Disorders
Skin cancer is the most common type of cancer in the United States.
… such as the liver, lungs or brain. In such cases, the disease is called metastatic melanoma.  … The most commonly … disposition toward or vulnerability to getting cancer. The risk is greatest for people who have light-colored skin that … with melanoma have family members who also have had the disease. Research suggests that a mutation in the CDKN2 gene …
MINC
Use the resources to help you design an education program or policy for your setting.
… and Evidence-Based Practice Module Pdf Free Fox Chase PA: Risk Assessment Program Policy Free Genetics Home Reference … Online Free Texas Health Presbyterian: Cardiovascular Disease Genomics to Health Flyer Free Texas Health …
Health
Un puntaje de riesgo poligénico es una forma en que las personas pueden conocer cuál es su riesgo de desarrollar una enfermedad, según el número total de variantes genómicas relacionadas con la enfermedad.