Current Rare Disease Research
Niemann-Pick Type C (NPC) is a rare, progressive genetic disorder that affects the body's ability to transport and store cholesterol and other lipids within cells, leading to their accumulation in vital organs like the brain, liver, and spleen. This lipid buildup causes severe neurological and developmental issues, including motor dysfunction, cognitive decline, and seizures. The University of Notre Dame’s Ara Parseghian Medical Research Fund is dedicated to find a cure for NPC and supports research all over the world.
Nonketotic hyperglycinemia (NKH) is a rare, inherited metabolic disorder caused by a defect in the enzyme system responsible for breaking down glycine, leading to an accumulation of this amino acid in the brain and other tissues. This buildup disrupts normal neurological function, resulting in severe symptoms such as seizures, muscle stiffness, and developmental delays, often presenting in newborns. Notre Dame and their collaborators are trying to understand the role of the GLDC or AMT proteins and develop genetic technologies to combat the disease.
Glycogen Storage Disorder 3 (GSD3) is a rare genetic disorder that impairs the body’s ability to break down glycogen, a stored form of sugar used for energy. This results in the buildup of glycogen in the liver and muscles, leading to low blood sugar, liver enlargement, and muscle weakness. Notre Dame and our collaborators are currently investigating biomarkers and genetic treatments for GSD3.
Kabuki syndrome is a rare genetic disorder characterized by distinct facial features, developmental delays, and a range of congenital anomalies, including heart defects and skeletal abnormalities. It often affects intellectual development, motor skills, and can be associated with immune deficiencies and hearing loss. Notre Dame is using genetic engineering, cell imaging, and biochemistry to understand the disease.
Friedreich's ataxia is a rare, inherited neurodegenerative disorder that primarily affects the nervous system and muscles, leading to progressive difficulty with movement, balance, and coordination. It is caused by a genetic mutation that impairs the production of a protein essential for normal nerve and muscle function, often resulting in symptoms such as muscle weakness, heart problems, and scoliosis. At Notre Dame, our scientists are investigating oxidative stress and mitochondrial metabolism as well as understanding the impact FA has on kidney function and pathology.
STARD9 is a protein belonging to the kinesin family, functioning as a molecular motor that is crucial for proper spindle formation during cell division. It plays a role in stabilizing the mitotic spindle, a structure essential for ensuring that chromosomes are correctly divided between daughter cells during mitosis. Patients with mutations in the STARD9 protein have developmental delays. As a newly identified rare disease, our scientists are trying to understand STARD9’s role in cell division and impact on other rare diseases such as NPC.
Von Hippel–Lindau (VHL) disease is a rare, inherited disorder characterized by the formation of tumors and cysts in various parts of the body, including the brain, spinal cord, kidneys, and eyes. It is caused by mutations in the VHL gene, which normally suppresses tumor growth, leading to the development of both benign and malignant tumors, such as hemangioblastomas and renal cell carcinomas. Researchers at Notre Dame are focused on understanding the molecular mechanisms behind VHL gene mutations and their role in tumor development, particularly in kidney cancer and hemangioblastomas.
Penile cancer is a rare form of cancer that develops in the tissues of the penis, most commonly as squamous cell carcinoma. It typically begins as a growth or lesion on the skin of the penis and can spread to nearby lymph nodes if not detected early. At Notre Dame, research on penile cancer focuses on exploring immune mechanisms and therapies to combat this rare cancer, particularly penile squamous cell carcinoma.