2021 Genomics of ASD: Pathways to Genetic Therapies awardees announced

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The Simons Foundation Autism Research Initiative (SFARI) is pleased to announce that it intends to fund 17 grants in response to the 2021 Genomics of ASD: Pathways to Genetic Therapies request for applications (RFA).

Grants funded through this RFA are intended to leverage current knowledge about risk genes for autism spectrum disorder (ASD) into the development of new genetic therapies.

Applications in response to this RFA were sought in three broad areas: (1) risk gene discovery and systems biology, (2) functional analysis of variants associated with ASD risk genes and (3) gene-targeted therapies. Proposals that span the different focus areas were encouraged, as were collaborations between academic and industry partners. Furthermore, SFARI encouraged proposals that focused on a subset of 50 genes from the SPARK gene list; these genes were selected, for a variety of different reasons, as strong candidates for the development of translational programs.

SFARI intends to provide approximately $17 million in funding over the next three years to 17 investigators as part of this program.

“Congratulations to all of the investigators and their collaborators who’ve received these awards,” says Kelsey Martin, director of SFARI and the Simons Foundation Neuroscience Collaborations. “The autism research community has made great strides in the identification of hundreds of risk genes over the past decade, and our hope now is that this knowledge can be translated into the development of treatments for genetically defined subtypes of the condition.”

The projects that were selected for funding focus on several different risk genes and conditions, including GRIN disorders, Rett syndrome and SLC6A1-related autism disorder. A variety of different approaches and methods will be used, including high-throughput screens to ascertain the functional effects of autism variants, and the development of antisense oligonucleotide and adenoviral vector-based gene therapies.

SFARI senior scientist Alan Packer adds, “We look forward to seeing the outcomes of these studies over the next few years and gaining valuable insights that will help accelerate progress toward new therapies for individuals with autism and their families.”

The projects that SFARI intends to fund are:

Benjamin Blencowe, Ph.D. (University of Toronto)
A splicing code for elucidating genetic and molecular mechanisms underlying autism

Allison Bradbury, Ph.D. (Nationwide Children’s Hospital)
Optimization and validation of gene therapy using a patient-specific mouse model of SLC6A1-related disorders

Samouil Farhi, Ph.D. and Ralda Nehme, Ph.D. (Broad Institute of Massachusetts Institute of Technology and Harvard University)
Multimodal fingerprinting of cellular phenotypes associated with autism risk variants

Joseph Gleeson, M.D. (University of California, San Diego)
Stem cell models to assess antisense oligonucleotides as novel therapeutics for autism

Wei-Hsiang Huang, Ph.D. (McGill University)
Targeting autism haploinsufficiency with novel molecular feedback circuits

Nael Nadif Kasri, Ph.D. (Radboud University Medical Center)
A human stem cell-based neuronal network platform for functional validation of autism-linked variants

Christopher J. R. Loewen, Ph.D. (University of British Columbia)
High-throughput autism variant functional testing using genetic interaction technologies in model systems

Wei Niu, Ph.D. and Jack M. Parent, M.D. (University of Michigan)
Antisense oligonucleotide therapy of X-linked protocadherin 19-related autism and epilepsy

Pablo Perez-Pinera, M.D., Ph.D. and Thomas Gaj, Ph.D. (University of Illinois at Urbana-Champaign)
Development of a CRISPR base editing gene therapy for Rett syndrome

Amy Ramsey, Ph.D. (University of Toronto)
Gene therapies for GRIN disorder

Neville Sanjana, Ph.D. (New York University)
Genome accessibility as a high-resolution biomarker for autism gene therapy

Arpiar Saunders, Ph.D. (Oregon Health & Science University)
High-throughput molecular and connectivity autism variant phenotyping in vivo using single-cell, single-virion genomic technologies

Jonathan Sebat, Ph.D. (University of California, San Diego)
Platforms to accelerate development of antisense oligonucleotide therapeutics for haploinsufficiencies associated with autism

Marc Vidal, Ph.D. (Dana-Farber Cancer Institute; Harvard Medical School) and Lilia Iakoucheva, Ph.D. (University of California, San Diego)
Functionalizing the autism variome

Rosanna Weksberg, M.D., Ph.D. (The Hospital for Sick Children; University of Toronto)
Functional annotation of gene variants in autism risk genes using DNA methylation signatures

Haiyuan Yu, Ph.D. (Cornell University)
Cell-type-specific interactome disruption prioritize risk missense mutations for autism

Chaolin Zhang, Ph.D. (Columbia University)
Targeted restoration of chromatin regulators as therapeutic interventions for autism

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