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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
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- Impact of Genomic Variation on Function (IGVF) Consortium1
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- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
MINC
Evaluation of whether or not all your hard work is making a difference is important.
MINC
Assessing your own work environment is a starting point for deciding who will be involved, what is needed, and establishing a plan of action.
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, and mental … related to the features of the tumor, and the stage of the disease. Treatment may include surgery to remove the kidney, … increased risk of cancer in babies. … WAGR Syndrome, Rare Disease, Genetic Disease, Chromosome 11, 11p13 Deletion … …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
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… your medical care. … Information on just about any disease can be obtained from the published scientific … These articles present what is known to date about a disease. Such articles may focus on the cause, diagnosis, treatment or other aspects of a disease. Basic science or laboratory research: These articles …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… or families who have genetic disorders or may be at risk for inherited conditions. … Genetics professionals are … For example, they may specialize in a particular disease (such as cancer genetics), an age group (such as … doctor or medical researcher - who specializes in your disease or disorder. A medical geneticist has completed a …
Health
Knowledge of your family health history can help you and your healthcare providers identify patterns of inheritance and risk factors.
… healthcare providers identify patterns of inheritance and risk factors. … Modernizing family health history: achievable … a statistical model using family health history to improve disease risk assessment May 1, 2019 Reddit AMA: The importance of …
Health
Healthcare professionals determine whether individuals, other family members, or future generations may be at increased risk of developing particular conditions.
… providers to identify patterns of inheritance and identify risk factors. … The NHGRI Family Health History Tool … family members, or future generations may be at increased risk of developing particular conditions. … Healthcare … family members, or future generations may be at increased risk of developing particular conditions. … Health …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… Familial Mediterranean Fever (FMF) is an inherited disease, characterized by recurrent attacks of fever, … a characteristic ankle rash. … FMF is considered a rare disease worldwide. However, it is very common in people of … Fever (FMF) is an autosomal recessive inherited disease, which means it appears only in individuals who …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… is by no means comprehensive. … A genetic disorder is a disease caused in whole or in part by a change in the DNA … are present in an individual at birth, like sickle cell disease. Other diseases are caused by acquired mutations in a … Genome Research Institute.​​ ​ … Genetic Disorder, Genetic Disease, Gene Editing, Genetic Testing, Chromosomes … A list …