GAND Research
Published Research LiteratureTo date, Helping Hands for GAND has awarded $170,000 in research grants to support work aimed at expanding the existing knowledge of GAND. The following papers represent research that HHFG has directly supported:
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Active Research ProjectsA collaborative project between Dr. Tyler Pierson, MD-PhD of Cedars-Sinai Medical Center and Dr. Juan Young PhD of the University of Miami seeks to use human cellular and mouse models of GAND to further characterize and understand this rare disorder.
They also aim to eventually develop methods of screening potential therapeutic compounds that may ameliorate symptoms of GAND. To date, Helping Hands for GAND has awarded $170,000 in research grants to support this important work. With your help, we hope to continue supporting this essential project! Drs. Young and Pierson provide more details about their studies in the videos below: |
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Dr. Young discusses his work with mouse models of GAND
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Dr. Pierson explains his current GAND research project
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A Note from Dr. Pierson, MD-PhD of Cedars-Sinai Medial Center
March 2020
Hello, everyone! Here is a video summary of some of the things we are studying in the lab with regards to GAND and the GATAD2B gene and protein. Our group is focusing on using Induced Pluripotent Stem Cells that have been derived from children with GAND (GAND-IPSCs) to generate brain tissues in tissue culture. We are studying five GAND-IPSC lines, and our work treats them with compounds to differentiate them into GAND-neural progenitor cells (GAND-NPCs) and then cortical neurons (GAND-Neurons). This allows us to follow these GAND-cells through the same developmental processes that occur in the brain during pregnancy to see where things may be different in children with GAND.
The first part of any big study is to determine an “assay,” which is an experiment where one type of cells or proteins act differently. Finding an assay where GAND cells are different from non-GAND cells will allow us to see if we can “fix the assay” by replacing the missing GATAD2B protein or by increasing expression of something else that can replace the function of the missing GATAD2B. Using patient-derived cells in tissue culture has allowed us to look at how fast GAND-NPCs grow and to see what types of neurons they become. Our “assays” have been getting better and better, which will allow us to start looking at compounds that might help GAND-cells behave in a more regular manner. This may help us find compounds that are already approved by the FDA to use to assist GAND children in the future.
Thank you for all of your help with our science and research!
Tyler Pierson, MD, PhD
Cedars-Sinai Medical Center
Los Angeles, CA
The first part of any big study is to determine an “assay,” which is an experiment where one type of cells or proteins act differently. Finding an assay where GAND cells are different from non-GAND cells will allow us to see if we can “fix the assay” by replacing the missing GATAD2B protein or by increasing expression of something else that can replace the function of the missing GATAD2B. Using patient-derived cells in tissue culture has allowed us to look at how fast GAND-NPCs grow and to see what types of neurons they become. Our “assays” have been getting better and better, which will allow us to start looking at compounds that might help GAND-cells behave in a more regular manner. This may help us find compounds that are already approved by the FDA to use to assist GAND children in the future.
Thank you for all of your help with our science and research!
Tyler Pierson, MD, PhD
Cedars-Sinai Medical Center
Los Angeles, CA
The GAND Community and Gene Therapy
At Helping Hands for GAND (HHFG), we are committed to providing our community with accurate, balanced, and timely information. To do this, members of our Board of Directors stay informed by attending scientific and ultra-rare disease conferences and working closely with our Scientific Advisory Committee, including leading clinicians and researchers with expertise in GAND and related fields, to evaluate emerging research and potential therapies. As gene therapy continues to gain attention with both promising advances and ongoing challenges, we believe it is important to share thoughtful, evidence-based updates with our community.
Across the rare disease community, patient advocacy organizations and doctors have expressed concerns about companies offering unproven ‘direct to consumer’ gene therapy opportunities to families. [1-3] At the 2026 NORD Scientific Symposium, important ethical concerns were raised about situations in which researchers or laboratories have directly approached families with promises to develop gene therapies in exchange for substantial fundraising commitments.
“Some scientists and patient advocacy groups sell their dreams for reality and confuse patient communities… who are hungry for solutions for their children... " [4]
Based on current scientific evidence and guidance from HHFG’s Scientific Advisory Committee, GATAD2B-associated neurodevelopmental disorder (GAND) is not considered an appropriate candidate for gene therapy at this time (like many other neurodevelopmental disorders) and could carry considerable risk compared to any potential benefit.
‘Gene therapy for neurodevelopmental disorders like GAND will not provide a ‘cure’ and could potentially make things worse for a child who is stable and developing.' [5]
Research in models of GAND indicate that the brain has micro-structural changes affecting the organization of the cerebral cortex that occur well before birth. [6] Current gene therapy approaches generally cannot reverse structural developmental changes that have already taken place. [7]
Although we believe it is unlikely that families affected by GAND will be targeted by organizations seeking funding for gene therapy development due to the nature of the disorder, we want our community to be informed and aware. If you are approached by a company, laboratory, researcher or anyone requesting financial support in exchange for developing a gene therapy, we encourage you to contact HHFG. Sharing this information helps us monitor emerging trends and keep our community informed.
HHFG remains committed to supporting high-quality research that advances understanding of GAND and explores safe, evidence-based, and realistic therapeutic opportunities for affected individuals and families.
Across the rare disease community, patient advocacy organizations and doctors have expressed concerns about companies offering unproven ‘direct to consumer’ gene therapy opportunities to families. [1-3] At the 2026 NORD Scientific Symposium, important ethical concerns were raised about situations in which researchers or laboratories have directly approached families with promises to develop gene therapies in exchange for substantial fundraising commitments.
“Some scientists and patient advocacy groups sell their dreams for reality and confuse patient communities… who are hungry for solutions for their children... " [4]
Based on current scientific evidence and guidance from HHFG’s Scientific Advisory Committee, GATAD2B-associated neurodevelopmental disorder (GAND) is not considered an appropriate candidate for gene therapy at this time (like many other neurodevelopmental disorders) and could carry considerable risk compared to any potential benefit.
‘Gene therapy for neurodevelopmental disorders like GAND will not provide a ‘cure’ and could potentially make things worse for a child who is stable and developing.' [5]
Research in models of GAND indicate that the brain has micro-structural changes affecting the organization of the cerebral cortex that occur well before birth. [6] Current gene therapy approaches generally cannot reverse structural developmental changes that have already taken place. [7]
Although we believe it is unlikely that families affected by GAND will be targeted by organizations seeking funding for gene therapy development due to the nature of the disorder, we want our community to be informed and aware. If you are approached by a company, laboratory, researcher or anyone requesting financial support in exchange for developing a gene therapy, we encourage you to contact HHFG. Sharing this information helps us monitor emerging trends and keep our community informed.
HHFG remains committed to supporting high-quality research that advances understanding of GAND and explores safe, evidence-based, and realistic therapeutic opportunities for affected individuals and families.
1 Panel discussion, ‘FDA Regulatory Innovation: Plausible Mechanism’ Session, NORD Rare Disease Scientific Symposium, 2026
2 These Families Raised Millions To Fund Treatment For Their Kids' Genetic Disorders. It Hasn't Happened. KCUR - NPR News Article, 24 Dec 2020 https://www.kcur.org/health/2020-12-24/these-families-raised-millions-to-fund-treatment-for-their-kids-genetic-disorders-it-hasnt-happened (accessed 19 June 2025)
3 Ikonomou et al.,2023. International Society for Cell & Gene Therapy Position Paper: Key Considerations to Support Evidence-Based Cell and Gene Therapies and Oppose Marketing of Unproven Products. Cytotherapy, 25:9, 920-929
4 Quote from Q&A Session in Panel Discussion, ‘Funding Rare Disease Research’ Session, NORD Rare Disease Scientific Symposium, 2026
5 Quote from Tyler Pierson, MD PhD, Pediatric Neurologist and researcher at Cedar-Sinai Medical Center, Q&A session, 2026 GAND-Aid-UK Conference, June 2026
6 Abad et al., 2024. Gatad2b, associated with the neurodevelopmental syndrome GAND, plays a critical role in neurodevelopment and cortical Patterning, Translational Psychiatry, 14:33
7 NORD (National Organization for Rare Disorders) - Gene Therapy Fact Sheet: https://rarediseases.org/gene-therapy/ (accessed 19 June 2026)
2 These Families Raised Millions To Fund Treatment For Their Kids' Genetic Disorders. It Hasn't Happened. KCUR - NPR News Article, 24 Dec 2020 https://www.kcur.org/health/2020-12-24/these-families-raised-millions-to-fund-treatment-for-their-kids-genetic-disorders-it-hasnt-happened (accessed 19 June 2025)
3 Ikonomou et al.,2023. International Society for Cell & Gene Therapy Position Paper: Key Considerations to Support Evidence-Based Cell and Gene Therapies and Oppose Marketing of Unproven Products. Cytotherapy, 25:9, 920-929
4 Quote from Q&A Session in Panel Discussion, ‘Funding Rare Disease Research’ Session, NORD Rare Disease Scientific Symposium, 2026
5 Quote from Tyler Pierson, MD PhD, Pediatric Neurologist and researcher at Cedar-Sinai Medical Center, Q&A session, 2026 GAND-Aid-UK Conference, June 2026
6 Abad et al., 2024. Gatad2b, associated with the neurodevelopmental syndrome GAND, plays a critical role in neurodevelopment and cortical Patterning, Translational Psychiatry, 14:33
7 NORD (National Organization for Rare Disorders) - Gene Therapy Fact Sheet: https://rarediseases.org/gene-therapy/ (accessed 19 June 2026)