Research
The Belnap Foundation is dedicated to fighting the devastating impacts of MTFMT-related Leigh syndrome, a rare mitochondrial disorder affecting the central nervous system. Our commitment lies in supporting cutting-edge research at the Translational Genomics Research Institute’s (TGen) Center for Rare Childhood Disorders in Phoenix, AZ.
Together, we aim to unravel this complex disease, driving the development of life-changing therapies.
ACTIVE RESEARCH PROJECTS:
We proudly support these active research endeavors focused on MTFMT-related Leigh Syndrome:
- Mouse Model Development: Creating a novel mouse model to precisely mimic MTFMT-related Leigh Syndrome, offering researchers a powerful tool to investigate the disease’s mechanisms and test potential treatments.
- Genomic Innovations: Harnessing advanced genomic technologies to understand the genetic causes of mitochondrial disorders, including MTFMT-related Leigh Syndrome. Animal and cellular disease models, as well as patient-derived iPSCs (induced pluripotent stem cells), will be used to explore the disease’s roots and uncover therapeutic options.
CONFERENCE ACTIVITY: KNOWLEDGE SHARING AND ADVOCACY
Our foundation actively participates in conferences, raising awareness and sharing research breakthroughs:
1. Newell Belnap and Rebecca Belnap. Mitochondrial Medicine Society Scientific and Clinical Meeting, June 8 – 9, 2022, Phoenix, AZ.
“What Does Mitochondrial Disease Mean to Me?”
2. Sampath Rangasamy et al. Oral Presentation at UMDF Mitochondrial Medicine 2022, Phoenix, AZ.
“Recurrent Splice Site Mutation in Mitochondrial Methionyl-tRNA Formyl Transferase (MTFMT): From Models to Therapy”
3. Newell Belnap et al., Poster Presentation, UMDF Mitochondrial Medicine Scientific and Clinical Meeting, June 26 – 29, 2019, Washington DC.
“Investigation of a Recurrent Splice Site Mutation in Mitochondrial Methionyl-tRNA Formyltransferase (MTFMT) Using Cellular and a Novel Mouse Model”
4. Newell Belnap et al. Oral Presentation at Lightning Rounds, UMDF Mitochondrial Medicine Scientific and Clinical Meeting, June 26 – 29, 2019, Washington DC.
“Investigation of a Recurrent Splice Site Mutation in Mitochondrial Methionyl-tRNA Formyltransferase (MTFMT) Using Cellular and a Novel Mouse Model”
RESEARCH MANUSCRIPTS
- Aravind Sankaramoorthy, C. Bilagody, K. Hassett, Sukanniya Kaneshamoorthy, Newell Belnap, Michelle S., Vinodh Narayanan, Sampath Rangasamy. “Functional Characterization of an MTFMT Exon 4 Splice Mutation in a Mouse Model of Leigh Syndrome Manuscript Under Preparation.
- Newell Belnap, Keri Ramsey, Merideth Castillo-Sanchez, Arivand, Katie, Matthew Huentelman, David Craig, Vinodh Narayanan, Sampath Rangasamy. Genotype-Phenotype Landscape of Leigh Syndrome Associated with MTFMT Mutations. Manuscript Under Preparation.
- Kelsey Chain. “Delineating the Role of Methionyl-tRNA-Formyltransferase (MTFMT) Splice Mutation (c.626C>T) in OXPHOS and Energy Metabolism” . ASU Undergraduate Thesis Work, 2022. https://keep.lib.asu.edu/items/131741
ACTIVE RESEARCH GRANTS
Program: 2023 New Investigator Awards (NIA)
Period of Performance: 04/01/2024 – 04/01/2027
Award/Contract Number: