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The consortium will collect data on psychiatric illness and genetic variants associated with an increased risk for neurodevelopmental/behavioral differences, such as those associated with the chromosome 22q11.2 deletion syndrome, with the aim of using the findings to improve patient care.
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World experts gather at CHOP-sponsored meetings in Italy to exchange information on the gene disorder chromosome 22q11.2 deletion syndrome
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CHOP genetics experts are among the leaders of a global effort to study why patients with chromosome 22q11.2 deletion syndrome have a higher risk of schizophrenia.
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Medical researchers have manipulated human stem cells into producing types of brain cells known to play important roles in neurodevelopmental disorders such as epilepsy, schizophrenia and autism.
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CHOP genetics expert Donna McDonald-McGinn, MS, CGC, was awarded the DiGeorge Medal for her longstanding work on chromosome 22q.11.2 deletion syndrome.