22q11.2 Deletion Syndrome (22qDS, 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 22qDS have a greater chance of having attention deficits, learning disabilities, and particular psychiatric conditions. While there is no known cure for 22qDS, there is a lot of exciting research happening in this area. Far less is known about 22q Duplication Syndrome. UCLA investigators have recently embarked on a study to further expand the knowledge of 22q Deletion and 22q Duplication Syndromes.
Neurofibromatosis Type 1 (NF1) is a genetic disorder that occurs in approximately 1 in 3,500 people. It is a disorder that causes tumors to grow on or in a variety of places in the body, including nerves, bones and skin. It can also lead to developmental abnormalities. Many people with NF1 have learning disabilities. While there is no known cure for NF1, there is a lot of exciting research happening in this area. UCLA investigators have recently embarked on a study to further expand the knowledge of NF1 in humans.
Another active research project, conducted in collaboration with Dr. Nelson Freimer, is an NIMH-funded study of neural endophenotypes of bipolar disorder in a genetically isolated population in Latin America.