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Coping with a Dual Diagnosis
Parents are usually blindsided when they find out that their child has congenital hyperinsulinism (HI), a rare genetic disorder that depresses blood sugar to dangerously low levels.
22Q11.2 Deletion Syndrome: Common but Underrecognized
Five-year-old “Peter” presented to Clinical Genetics following evaluations by 27 subspecialists who were unable to provide his 2 physician parents with a unifying diagnosis to explain his seemingly disparate constellation of findings. But Peter’s parents were relentless in attempting to resolve their son’s diagnostic odyssey.
Researchers Show How Mitochondrial Function Influences Schizophrenia Status in Patients with Genetic Disorder
New findings set stage for future targeted therapies for patients with 22q11.2 deletion syndrome, who are 25 times more likely to develop schizophrenia.
New Cell Models Help Researchers Study Disease Development and Growth Issues in Beckwith-Wiedemann Syndrome
New Cell Models Help Researchers Study Disease Development and Growth Issues in Beckwith-Wiedemann Syndrome
Study Uses Polygenic Risk Scores to Determine Schizophrenia Risk in 22q11.2DS
A new study involving CHOP researchers looked at genetic variants across the genome to determine risk levels for developing schizophrenia in patients with 22q11.2DS.
CHOP Researchers Join NIH Consortium to Study Rare Genetic Disorders Involved in Psychiatric Conditions
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.
CHOP Experts from 22q and You Center Update Multiple Facets of the Condition in Special Issue of Journal
Dozens of CHOP clinicians and researchers updated scientific knowledge of chromosome 22q11.2 deletion syndrome in a special issue of a genetics journal.
CHOP-Penn Receive 22q11.2 Society Inaugural Special Service Award
CHOP and Penn were honored for outstanding, long-standing, exemplary and unwavering commitment and contributions to the chromosome 22q11.2 community since 1992.
Global Meeting Draws on CHOP Expertise in Chromosome Deletion Syndrome
World experts gather at CHOP-sponsored meetings in Italy to exchange information on the gene disorder chromosome 22q11.2 deletion syndrome