CDKL5 deficiency disorder (CDD) is characterized by epileptic seizures which begin within days or months of birth, and by severe developmental delay affecting neurological functions such as motor control, speech, and cognitive ability. This disorder is caused by mutations in the CDKL5 gene which reduce or eliminate expression or function of the CDKL5 protein, an enzyme that is important for normal brain function.Read more about our work with CDKL5 Deficiency Disorder (CDD)
Mucopolysaccharidoses (MPSs) are a family of lysosomal storage diseases, each of which is caused by the absence of a critical enzyme needed for normal lysosomal function. These lysosomal enzymes are needed to degrade mucopolysaccharides, now called glycosaminoglycans (GAGs), as well as other cellular debris.Read more about our work with Mucopolysaccharidoses
The immune system is a multifaceted set of organs, cells, and proteins that work to prevent infection. Abnormalities in the immune system can result in dysregulation, which results in the immune system attacking the body.
Castleman disease describes a group of rare immune system disorders characterized by enlarged lymph nodes, flu-like symptoms, and dysfunction of vital organs such as the liver, kidneys, and bone marrow. Castleman disease patients demonstrate features similar to cancers like lymphoma and autoimmune diseases.Read more about our work with Castleman Disease
Beckwith-Wiedemann syndrome is a genetic and epigenetic disorder commonly characterized by overgrowth and increased risk for cancer. Aspects include large birth weight and length; enlarged kidneys, liver, pancreas, and/or tongue; one side of the body growing more than the other side; and an increased risk of developing certain cancers during childhood.
The ODC Pilot Programs of Excellence Grant helps Penn and CHOP investigators to engage rare disease communities (patients, clinicians, industry) and build appropriate resources across these communities to improve standards of care or therapeutic development.Read more about our work with Pilot POE Awardees