NUBPL, known simply by the name of the affected gene, is a rare and progressive mitochondrial complex 1 deficiency disorder with onset neurological symptoms: cerebellar dysfunction - progressive cerebellar & pons hypoplasia, global developmental delay, inability (or difficulty) to walk, ataxia, nystagmus, tremors, and speech articulation difficulty.
Families are racing against time to fund a treatment breakthrough to slow the progression before it's too late.
Dr. Marni Falk and her research team are investigating life-saving therapies for NUBPL. The Mitochondrial-Genetic Disease Clinic at the Children's Hospital of Philaphelpia (CHOP) is one of the top research centers in the nation for Mitochondrial related diseases. "Families go out and raise money, whether through silent auctions or through lemonade sales. The money goes for the salaries and the reagents to actually test the models," says Dr. Marni Falk.
Dr. Marni Falk and the NUBPL Research Team Thank you very much for your interest in the NUBPL Research Fund where 100% of all contributions are tax-deductible and go directly to fund this critical research for a treatment breakthrough.