This year, The PHRF is deeply moved to award the “Ann D. Bornstein Gene Therapy Grant,” in honor of Ann Bornstein, aunt of PHRF president, Audrey Davidow Lapidus, and sister of PHRF board member Jeffrey Davidow, who passed unexpectedly earlier this year. The Bornstein family has been extremely generous to the Foundation over the years and without them, so much of our research would not be where it is today. When she passed, her family asked that donations be made to the Pitt Hopkins Research Foundation. The outpouring of love and support for this special woman was overwhelming. And a generous amount was raised in her memory.

So this year, in honor of Ann and her family, we are awarding a grant to Dr. Ben Philpot and Dr. Steven Gray at the University of North Carolina, Chapel Hill with the hope that the grief of her passing may in some way be countered by the promise they are creating for our families through Gene Therapy.

Grant summary

The laboratories of Dr. Ben Philpot and Dr. Steven Gray at the University of North Carolina at Chapel Hill are collaborating on a project to investigate the feasibility of a gene therapy approach for Pitt-Hopkins syndrome (PTHS). This collaborative study combines Dr. Philpot’s expertise in autism and neuroscience with Dr. Gray’s expertise in translational gene therapy for neurological disorders. The project will follow a platform gene transfer approach using AAV vectors taken by Dr. Gray to initiate a human Phase I trial for Giant Axonal Neuropathy. The approach uses an engineered virus, AAV, to carry a functional copy of the gene disrupted in PTHS into the body and distribute it across the nervous system. In this fashion, a single dose of this gene therapy could permanently restore the gene to cells across the nervous system, treating the disease at its source. This initial pilot study is meant to assess the potential of this as a treatment approach for PTHS, and identify any roadblocks that may exist.