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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
Research Funding
The IGNITE PTN supports a network of multi-site clinical groups involving diverse settings and populations to conduct two pragmatic clinical trials of genomic medicine interventions.
… The Implementing Genomic in Practice (IGNITE) Network was established in 2013 ( RFA-HG-12-006 , … in diverse clinical settings. The first phase of the network, IGNITE I , was a consortium of collaborative … , RFA-HG-17-009 , and RFA-HG-17-010 ) began in 2018. The network comprises five multi-site Clinical Groups (CGs) and …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… will guide researchers in studying other forms of these diseases, as well as other neurological disorders. Because … investigating inherited and non-inherited neurological diseases. Additional Resources for Charcot-Marie-Tooth … Center for Biotechnology Information Genetics and Rare Diseases Information Center Finding Reliable Health …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… Neglected diseases are conditions that inflict severe health burdens on … or by others instrumental in drug access. … Neglected diseases are conditions that inflict severe health burdens on … poorest people. Many of these conditions are infectious diseases that are most prevalent in tropical climates, …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… medicine. … We have known for a long time that common diseases like heart disease, asthma, cancer, and diabetes can run in families. Rare diseases like hemophilia, cystic fibrosis, and sickle cell … you have an increased chance of getting some common diseases. Your health care provider can then give you …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Disease Association International National Digestive Diseases Information Clearing House Genetic and Rare Diseases Information Center Gene Tests Genetic Alliance …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… From the Mayo Clinic National Tay-Sachs and Allied Diseases Association [ntsad.org] Finding Reliable Health …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… to identify genetic variations that contribute to common diseases including Parkinson's disease. … In most cases …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… skin problems; kidney stones, gallstones or other diseases of the liver and biliary system. Both men and women … Treating Children and Adolescents National Digestive Diseases Information Clearinghouse Inflammatory Bowel Disease … Crohn's Disease in Children and Teens Genetics and Rare Diseases Information Center Finding Reliable Health …
News Release
A new phase of the IGNITE Network will conduct clinical trials of genomic medicine interventions.
… Prabarna Ganguly, Ph.D. … A new phase of the IGNITE Network will conduct clinical trials of genomic medicine … genomic medicine interventions to improve management of diseases such as high blood pressure, depression and chronic … and high blood pressure exacerbate end-stage kidney diseases, and all three conditions are more common among …