New Test Could Rapidly Identify Genetic Diseases in Newborns
Published on in CHOP News
CHOP was one of the first sites to assess a new form of whole genome sequencing.
Division of Human Genetics News and Updates
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CHOP Researchers Find That Differences in Mitochondria Lead to More Severe Cases of Rare Genetic Disease
Published on in CHOP News
Mitochondria are not "properly recycled" in some cases, and this may serve as a potential target for future therapeutic interventions.
Trisomy 21 Experts Present at Genetics Grand Rounds
Published on in CHOP News
Trisomy 21 Program staff provide details on the joys and challenges of raising a child with Down syndrome to help genetic counselors better prepare families.
Researchers at CHOP Join Forces to Study Connections Between Mitochondria and Cancer
Published on in CHOP News
The Mitochondria and Cancer Connections (MC²) Research Program will study how cancer cells find the energy to grow and ways to prevent their return.
Children’s Hospital of Philadelphia Researchers Develop Tools to Measure Skeletal Muscle Function in Patients with Mitochondrial Disease
Published on in CHOP News
Outcome measurements revealed information about muscle weakness and differences between pediatric and adult patients.
CHOP Researchers Find New Genetic Markers for Rarer Form of Type 1 Diabetes
Published on in CHOP News
The findings also show that some of these genetic markers are shared with autism spectrum disorder, suggesting a possible connection.
Make the Diagnosis: Summer 2021
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 two 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
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.
CHOP Researchers Find Effective Combination of Therapies for Managing Mitochondrial Disease
Published on in CHOP News
Study is first to demonstrate how one specific combinational therapy may provide measurable benefits to patients with mitochondrial respiratory chain disorders, which currently lack FDA-approved therapies.
New Cell Models Help Researchers Study Disease Development and Growth Issues in Beckwith-Wiedemann Syndrome
Published on in CHOP News
New Cell Models Help Researchers Study Disease Development and Growth Issues in Beckwith-Wiedemann Syndrome