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SynGAP Research Fund Announces #SRFFrazier Grant to Dr. Thomas Frazier of John Carroll University

(PRNewsfoto/SynGAP Research Fund)

News provided by

SynGAP Research Fund

Feb 02, 2021, 09:21 ET

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NEW YORK, Feb. 2, 2021 /PRNewswire/ -- The SynGAP Research Fund (SRF) announces a grant award to Dr. Thomas Frazier, Professor of Psychology at John Carroll University. Dr. Frazier will receive funding over two years for development and validation of a Neurobehavioral Evaluation Tool (NET) for autism and related genetic syndromes. The grant will facilitate the participation of SYNGAP1 patients and their caregivers in the development and application of the tool.

SYNGAP1-related intellectual disability is a rare genetic disorder caused by a variation on the SYNGAP1 gene, with over 700 diagnosed patients accounted for globally according to the #SyngapCensus. It leads to several neurological issues in patients, including mild-to-severe intellectual disability, epilepsy, autism, sleep issues, hypotonia (low muscle tone), apraxia (delayed/no speech), impulsivity and aggression.

Dr. Frazier seeks to address the lack of a tool specifically catered to collecting information from patients with neurodevelopmental genetic syndromes (NDGS) such as SYNGAP1. Many characteristics of existing tools are irrelevant to NDGS patients, and data collection often requires difficult long-distance travel. The new tool, designed with clinician, patient and caregiver involvement, will be more accurate, repeatable and sensitive to change than what is currently available.

"To develop better interventions and supports, we need measures that accurately capture important behaviors and the challenges patients experience. I am excited about the measures we are developing because they will be designed to sensitively track improvement by collecting data from the caregiver and the patient to provide a comprehensive assessment," says Dr. Frazier.

This work is primarily funded by PTEN Research, a medical research charity funding research into new and better treatments for PTEN.  The PTEN Hamartoma Tumour Syndrome Foundation and Autism Speaks are also supporting the work. SRF is excited to collaborate with these and other rare disease groups-like ADNP Kids Research Foundation & Malan Syndrome Foundation--to ensure SYNGAP1 patients benefit from Dr. Frazier's research.

Michael Graglia, Managing Director of SRF says, "Collaboration between autism and rare neurological disease groups is a model we must embrace to address the needs of our communities in a timeframe that matters.  Supporting Dr. Frazier to develop a validated scale for clinical trials, soon, is exactly the kind of grant parent-led groups should make."  SRF has connected Dr. Constance Smith-Hicks, MD, PhD of the Kennedy Krieger Institute, to the project. Her deep clinical expertise with SYNGAP1 patients will help inform the work.

"This is an exciting project as the proposed tools will fill a notable gap in our ability to measure and track neurobehavioral phenotypes in NDGS," says Dr. Smith-Hicks.

ABOUT SYNGAP RESEARCH FUND

SRF, incorporated in 2018, is a 501(c)(3) public charity.  The mission is to improve the quality of life of SYNGAP1 patients through the research and development of treatments, therapies and support systems. Completely parent-led, SRF is the largest non-government funder of SynGAP research having committed over $1M in grants.  The founders cover all operational costs, allowing 100% of donations to go to research. SRF is a member of the Personalized Medicine Coalition, COMBINEDbrain and Global Genes Foundation Alliance.  For more information, visit SyngapResearchFund.org.

ABOUT JOHN CARROLL UNIVERSITY

John Carroll University is located in University Heights, Ohio, a suburb of Cleveland. Its mission inspires individuals to excel in learning, leadership, and service in the region and around the world. One of 27 Jesuit colleges and universities in the United States, John Carroll University is recognized nationally for an exceptional four-year graduation rate, teaching excellence, and a commitment to living a faith that does justice.

Contact:
Peter Halliburton, SRF Development Director
[email protected]

SOURCE SynGAP Research Fund

Related Links

https://syngapresearchfund.org

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