Landmark study from CHOP and Penn Medicine showcases the power of customized gene editing therapy to treat patient with rare metabolic disease.

The methods help identify “footprints” that indicate binding sites and reveal variants that could increase risk for a variety of common diseases.

New techniques were utilized to recreate the goals of a natural history study of rare diseases in a fraction of the time.

MMFP-Tableau offers a readily generalizable solution to make research and clinical electronic health system data more accessible and impactful.

Researchers aim to develop personalized therapies for urea cycle disorders and other genetic conditions using advanced CRISPR technology.

Hundreds of variants in “secondary finding” genes could guide treatment for patients to avoid risks and complications of health issues in adulthood.

The ex vivo gene therapy improved sulfatase production and reduced symptoms associated with the disease in preclinical models

Findings will help provide more accurate diagnoses to families.

Preclinical data suggests a new strategy for treating complex cases of COVID-19 independent of mutations and variants.

The findings also found that older patients with primary mitochondrial disease have a lower quality of life than pediatric patients with the same disease.