top of page
Search
NIH Support for the development of therapeutic platform approaches to treat monogenic disease
December 15, 2025 Philip J. (P.J.) Brooks is the Acting Director of NCATS’ Division of Rare Diseases Research Innovation . He also is the working group co-coordinator for the NIH Common Fund programs on Somatic Cell Genome Editing and the Newborn Screening by Whole-Geome Sequencing ( NBSxWGS | NIH Common Fund ). He is also one of the leaders of the Platform Vector Gene Therapy (PaVe-GT) pilot project and the co-chair of the Bespoke Gene Therapy Consortium . He also r
Deciphering SPTAN1-associated disease mechanism and potential therapy in patient-derived cell lines
December 1, 2025 The SPTAN1 c.6908_6916dup (p.D2303_L2305dup) variant causes severe developmental epileptic encephalopathy type 5 (DEE5) with high risks of early mortality. We investigated the molecular interactors of SPTAN1 and provided confirmatory cellular evidence of dominant-negative disease mechanism. We identified specific therapeutic targets within individuals for precision antisense oligonucleotide therapy development and are currently optimizing our candidate oligos
N=1 Collaborative: FDA’s New Plausible Mechanism Pathway
November 19, 2025 By Julia Pian, MD Last Wednesday, the U.S. Food and Drug Administration announced the Plausible Mechanism Pathway, outlining in broad strokes a new regulatory strategy for supporting the responsible advancement of precision genetic therapies [1]. As an independent, cross-sector non-profit, the N=1 Collaborative welcomes this move, signaling the FDA's willingness to be a creative partner in developing models to unlock the potential of precisely targeted, pr
Towards a divalent siRNA therapy for prion disease: an academic, patient-scientist led effort
Monday, September 8, 2025 at 12:30 pm US EDT Prion disease is a rapidly fatal neurodegenerative disease with no current standard or care. Since 2019 we have been collaborating with Anastasia Khvorova's lab at UMass to identify and develop a divalent siRNA molecule capable of lowering prion protein across the human brain, as a treatment and preventive therapy. Leveraging a combination of NIH and philanthropic funds, we have identified a lead candidate, completed GLP toxicology
Advancing human hematopoietic stem cell therapies: from sickle cell disease to personalized treatments for bone marrow failure disorders
Monday, September 22, 2025 at 12:30 pm US EDT Dr. Shengdar Tsai will describe progress in our efforts to advanced personalized genome editing therapies for pediatric patients with bone marrow failure at St. Jude Children's Research Hospital, as part of a blue sky project called PARADIGM (Partnership to Advance Development of Individualized Genomic Medicines). Dr. Tsai is an Associate Member in the Department of Hematology at St. Jude Children’s Research Hospital. His lab’s r
July 2025 Newsletter
Individual Journeys, Shared Discoveries: Partnering for Progress in Individualized Medicines Last year’s meeting brought together over...
How a tailored ALS drug could help broaden rare disease therapies
Jared Whitlock ( Endpoints News ) June 18, 2025 In 2020, Jaci Hermstad died at age 26 from a rare and aggressive form of ALS. But her...
N1C Gene Registry
At N1C, we aim to advance individualized medicine by connecting the evolving ecosystem. The N1C Gene Registry (Version 1.0) is our first...
bottom of page