ABOUT US
The UGDH Foundation began with a handful of parents seeking medical answers for a disorder that eluded diagnosis, defied treatment, and severely limited the abilities of their children.
OUR MISSION
Limited Treatments. Unlimited Love.
We exist to bring relief to families affected by Jamuar syndrome through scientific collaboration for better treatments and a cure.
Board of Directors
Our board of directors includes parents of children diagnosed with Jamuar syndrome and individuals with full-time nonprofit experience.
REBEKAH HALL, CHAIR
West Virginia, United States
Rebekah Hall has worked in administrative support for both commercial and nonprofit corporations. She’s also Thad’s mom and currently cares for him and his sister full-time.
ALYSSA MAULE
Pennsylvania, United States
Alyssa Maule is a NICU nurse at Capital Health Medical Center in the greater Philadelphia region. She is also Connor’s mom and champion. Connor was born June 14, 2020, and blessed the world until his flight to heaven on October 14, 2021. Alyssa continues to love him by serving The UGDH Foundation.
BRANDON HACKETT, TREASURER
Maryland, United States
Brandon Hackett has worked in private, public, and nonprofit organizations, amassing expertise in auditing, web design, and communications. He currently is Internal Audit Manager for Edify.org.
JAKE HALL, SECRETARY
Pennsylvania, United States
Jake Hall is Digital Marketing Specialist at Stories Marketing. He has sixteen years of experience in nonprofit and commercial project and marketing management. And, he’s dad to Thad, who is diagnosed with a UGDH-related disorder.
CHUCK MOORE
West Virginia, United States
Chuck is a project management professional who has supported drug discovery and development for 16 years. For the past 11 years, he has supported research and development for a variety of rare and neglected diseases as a government contractor. This includes in vitro and in vivo pharmacology, efficacy and toxicity testing and manufacturing development for therapeutics for cancer, genetic diseases, and viral indications. His project experience spans discovery and preclinical development leading to FDA applications.
ARDEE COOLIDGE
West Virginia, United States
Ardee Coolidge is Director of Optimization for NextAfter and specializes in managing digital marketing and fundraising campaigns.
Scientific Advisory Board
The foundation's Scientific Advisory Board is made of scientific researchers and clinicians who have developed expertise in Jamuar syndrome in clinical or lab settings.
DR. SAUMYA JAMUAR
Singapore
Dr. Jamuar is a Clinical Geneticist at KK Women’s and Children’s Hospital in Singapore. He also serves as the Lead PI of the Singapore Childhood Undiagnosed Disease Program and is the Clinical Director of the Institute of Precision Medicine, Singhealth Duke-NUS Medical School. His clinical work played a critical role in the development of the groundbreaking study on UGDH-related disorders: “Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy,” Holger et al, Nature Communications (January 2020).
DR. KRISTIN BARAÑANO
Baltimore, Maryland
Dr. Kristin Barañano is a pediatric Neurology Specialist at Johns Hopkins Hospital in Baltimore, Maryland. She graduated with honors from Johns Hopkins University School Of Medicine in 2004. Her expertise is in the study of ataxia, neurogenetics, and neurology, and she has contributed to many studies on these topics. Dr. Barañano is actively conducting a study involving Jamuar syndrome.
LAINA LUSK, MMSC, CGC
Philadelphia, Pennsylvania
​Laina is a licensed certified genetic counselor at the Children’s Hospital of Philadelphia. Clinically, she sees patients with epilepsy, autism spectrum disorder, intellectual disability, and a range of other neurodevelopmental disorders in the Epilepsy NeuroGenetics Initiative (ENGIN) program. Her research interests include variant curation, gene curation, deep phenotyping, and using large datasets and bioinformatics to illuminate the genotypes and phenotypes of rare neurodevelopmental genes.
She saw her first patient with a UGDH-related disorder in 2020, and looks forward to seeing this community grow, and along with it, new research and treatment opportunities for those affected by this disorder.
DR. MELANIE SIMPSON
Raleigh, North Carolina
Dr. Simpson is Professor and Department Head of the Department of Molecular and Structural Biochemistry at North Carolina State University. In addition, she is co-author of the ground-breaking study on Jamuar syndrome: “Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy," Holger et al, Nature Communications (January 2020). The Simpson lab's role in this study was to generate the point mutants in vitro and characterize the proteins, to assay UGDH activity and expression in patient fibroblast lysates, and to perform mass spec quantification of UDP-sugars in those lysates. Dr. Simpson continues to investigate UGDH in her work.
Our Journey So Far
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