Rare Diseases

University of Pittsburgh researchers have used the CRISPR technology to create a new mouse model for a rare, recessive metabolic disorder.

The Orphan G Protein–Coupled Receptor 3 Modulates Amyloid-Beta Peptide Generation in Neurons.

University of Pittsburgh and Cedars-Sinai Medical Center scientists have developed a novel MRI (magnetic resonance imaging) method, 4D Oxy-wavelet MRI, to monitor mitochondrial function in live tissue (e.

This antioxidant therapy reduces reactive oxygen levels in cells to treat propionic and methylmalonic acidemia.

These human antibodies target the protein, protogenin, to reduce growth of medulloblastomas.

This approach employs targeted reduction of β-catenin expression or activity in the liver to alleviate porphyria by correcting dysregulated heme biosynthesis.

A team of researchers from the University of Pittsburgh have identified the cause of a new neurological syndrome and a potential therapeutic target for its treatment.

This novel combinatorial therapeutic method pairs allogenic stem cell transplantation with an advanced viral vector-mediated gene therapy to boost the crucial GALC enzyme expression.

Triosephosphate isomerase (TPI) deficiency is a rare, recessive metabolic disorder that causes hemolytic anemia, locomotor impairment, increased susceptibility to infection, progressive neurodegeneration, and muscle weakness that can affect lung and heart function.

Many inherited non-malignant disorders can be cured or alleviated in children by hematopoietic stem cell transplant (HSCT).

University of Pittsburgh researchers have designed and synthesized novel carbamates to target the potassium channels (K-channels) in auditory synapses, a novel target for the treatment of tinnitus.

This invention is a tele-clinical trial platform designed to enable remote patient enrollment and protocol administration for clinical trials.

Duchenne Muscular Dystrophy (DMD) is one of the most frequent genetic diseases and affects one in 3,500 boys worldwide.