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22q11.2 Deletion Syndrome (22q11DS, or Velocardiofacial Syndrome) is a genetic disorder that occurs in approximately 1 in 4000 people. It is a disorder that frequently causes craniofacial anomalies and heart defects. It can also cause developmental delays. Many people with 22q11DS have a greater chance of having attention deficits, learning disabilities, and particular psychiatric conditions. While there is no known cure for 22q11DS, a lot of exciting research is happening in this area. Far less is known about 22q11.2 Duplication Syndrome. We are currently recruiting for a research study to expand our knowledge of the effects of 22q11.2 deletions and duplications on brain and behavior. Please get in touch with us for more information.
16p11.2 Deletion or Duplication Syndrome: The purpose of this study is to investigate the causes of deletions and duplications in chromosome 16 and study factors that influence the clinical features seen in patients with a deletion or duplication in chromosome 16. Participants must be at least 7 years old.
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The Psychosis Risk Outcomes Network (ProNET) is a research study that aims to better understand the causes and course of the earliest stages of psychosis, focusing on the clinical high risk syndrome that sometimes progresses to first episode psychosis. For most, clinical high-risk symptoms, which are milder forms of symptoms of psychosis may stay the same, decrease or go away entirely over the course of a few months or a few years. For others, these symptoms may become more severe over time and develop into psychosis. The onset of psychosis disproportionately impacts young people, with the National Institute of Health (NIH) estimating that 100,000 young people experience a first episode of psychosis each year in the U.S.
ProNET is funded by the NIH and the Foundation for the NIH (FNIH) as an Accelerating Medicines Partnership (AMP), a program that brings together NIH, private foundations and industry sponsors to accelerate the development of new medications through large-scale research initiatives. ProNET builds upon the knowledge learned in previous studies demonstrating that early identification and treatment of psychosis produces better health outcomes, including reduced suicidal risk and symptom severity, improved long-term quality of life and lower economic burden.
By studying a variety of biomarkers (brain scans and blood tests, for example), we aim to improve our ability to predict the health outcomes of individuals at clinical high risk, including which individuals are most likely to develop psychosis and which individuals are most likely to improve. The study, and the insights derived from it, will provide a platform for developing new treatments that aim to transform long-term outcomes for those at greatest risk for transitioning to psychosis — possibly altering the course of the illness or even preventing it altogether.
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Another active research project, conducted in collaboration with Drs. Nelson Freimer and Carlos Lopez-Jaramillo at the Universidad de Antioquia focus on the genetics of serious mental illness in the Paisa population in Colombia.