Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease characterized by progressive muscle weakness and wasting, with eventual paralysis. Patients with ALS lose the ability to walk, speak, swallow, and breathe, which leads to respiratory failure and death.Read more about our work with Amyotrophic Lateral Sclerosis
CDKL5 deficiency 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
Crigler-Najjar syndrome type 1 is an ultra-rare recessive genetic disorder characterized by hyperbilirubinemia and jaundice. Deficiency of the liver enzyme UGT1A1, which is responsible for bilirubin metabolism and excretion, can result in toxic accumulation of bilirubin and the risk of irreversible neurological damage.Read more about our work with Crigler-Najjar Syndrome
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 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
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 is a rare disease of lymph nodes and related tissue. It is characterized by an abnormal overgrowth of cells of the lymph system that is similar to lymphomas (cancers of lymph nodes). While Castleman disease is not a cancer, in one form of this disease (multicentric Castleman disease) patients eventually develop lymphoma
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.