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Clinical Trials: Rare Diseases
IRB No. 03-007-1 (Dr. Ernst Reichenberger, PI): Genetic Analysis of Human Disorders: Keloid Formation
The purpose of this study is to identify genes which cause or contribute to keloid formation. Keloids are wounds which grow beyond the margin of the original skin wound.
IRB No. 03-008-1 (Dr. Ernst Reichenberger, PI): Genetic Analysis of Human Disorders: Skeletal Disorders
The purpose of this study is the investigation of rare bone disorders such as craniometaphyseal dysplasia, cherubism, aplasia cutis congenita, gnathodiaphyseal dysplasia.
IRB No. 13-132S-2 (Dr. Glenn Konopaske, PI): Enroll-HD: A Prospective Registry Study in a Global Huntington's Disease Cohort
Enroll HD is a worldwide observational study for people with HD and their family members. We are collecting data in an effort to improve our understanding and treatment of HD.
IRB No. 22-255-2 (Dr. Zhichao Fan, PI): Mechanisms and Roles of Integrin Activation of Cystic Fibrosis Leukocytes
The immune system is the body';s defense against infectious organisms and other invaders. Integrins are key mediators in immunity for the recruitment of white cells which play critical roles in inflammatory diseases. Insights about Integrin function hold out the prospect of improved disease prevention and drug discovery. Integrin molecules stick to body surfaces or cells. They are vital to the successful functioning of the inflammatory response at the source of an insult. In response to inflammation or infection, white cells stick to nearby blood vessels and then crawl along the surface until they can squeeze out of the blood vessel into tissues where they must act. Studying and super imaging these mechanisms and the roles of integrin during this activation will bring new insights about leukocyte recruitment and leukocyte immune functions as well as invite discovery of novel treatments for infectious and inflammatory diseases. This project is investigating how integrins may also affect blood vessels as commonly seen in human heart disease.