Published on in CHOP News
She was selected as the 2022 recipient of the ACMG Foundation for Genetic and Genomic Medicine's David L. Rimoin Lifetime Achievement Award in Medical Genetics.
Published on in Children's Doctor
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.
Published on in CHOP News
New findings set stage for future targeted therapies for patients with 22q11.2 deletion syndrome, who are 25 times more likely to develop schizophrenia.
Published on in CHOP News
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.
Published on in CHOP News
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.
Published on in CHOP News
Daniel E. McGinn won the award for his presentation about lower IQ scores in children of parents with the chromosome 22q11.2 deletion.
Published on in Community Impact Report
CHOP volunteers make camp a reality for many kids with special medical needs. They not only keep them healthy, but they also take part of the activities and enjoy seeing kids being kids.
Published on in CHOP News
Dozens of CHOP clinicians and researchers updated scientific knowledge of chromosome 22q11.2 deletion syndrome in a special issue of a genetics journal.
Published on in CHOP News
The newly established Master of Science Genetic Counseling Program will further strengthen CHOP's resources.
Published on in CHOP News
CHOP and Penn were honored for outstanding, long-standing, exemplary and unwavering commitment and contributions to the chromosome 22q11.2 community since 1992.