SCIENTIFIC BACKGROUND

Retinitis Pigmentosa (RP) is the most common inherited retinal disease, affecting approximately 1 in 4000 people globally. Recent research has identified a rare set of genetic mutations responsible for adult-onset RP in some patients. The identified mutations affect the body’s production of an enzyme - heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) - that is critical to the breakdown of heparin sulfate, a byproduct of neuronal activity throughout the body.

The neurons of the retina appear particularly sensitive to the buildup of heparin sulfate, and without sufficient levels of HGSNAT, retinal photoreceptors face toxic levels of buildup and eventually die.

Patients with HGSNAT-related RP generally present in middle-age, and early symptoms include enlarged, pericentral blind spots and night blindness (nyctalopia).

Upstream is particularly interested in gene therapies utilizing viral vectors (AAVs) to introduce complete copies of the HGSNAT gene into retinal neurons. This therapeutic approach has proven effective against other retinal diseases.

For further information:

https://pubmed.ncbi.nlm.nih.gov/32770643/

https://iovs.arvojournals.org/article.aspx?articleid=2773879

GRANTMAKING

Upstream funds the research of labs investigating gene therapies for HGSNAT-related RP. Please reach out to us on the Contact tab if your lab is interested in grant funding from Upstream.

LEADERSHIP

Ben Lundin is President & CEO of Upstream Genes. He is an accomplished healthcare entrepreneur (Pacify Health), an advisor to several large companies and investment funds in healthcare and digital marketing, and a professor who teaches courses in healthcare and entrepreneurship. He studied at UNC-CH, where he was a Morehead-Cain Scholar, and at Oxford University, where he was a Rhodes Scholar. He lives with his wife (Julia) and three children in Washington, DC.