Our Story
On March 30, 2011, a little fuzzy boy named Thaddeus was born. Thad started out as most of them do, kicking and crying. But for some reason he kept clenching his fists and pushing his head backward. He had a weak cry and couldn’t eat very well. As the months passed, he did not reach any developmental milestones. At four months of age, he started having infantile spasms.
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At that point, his parents knew Thad had a devastating disease, but no amount of testing at Children’s National Medical Center could tell them what it was. In 2012, he had whole exome sequencing performed to search his entire DNA for disease-causing genetic variants. It only found variants of uncertain significance. ​​
Thad lived without a diagnosis for five more years. Then, he had the opportunity to participate in an international study exploring whether certain genetic variants were to blame for his symptoms.
Jamuar Syndrome Is Discovered
In 2020, that study was published in Nature Communications. For the very first time, it explained why Thad and 35 other patients from around the world were experiencing developmental and epileptic encephalopathy. Pathogenic loss-of-function variants in the UGDH gene were causing the disease now known as Jamuar syndrome (DEE84).
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UGDH encodes a protein called UDP-glucose dehydrogenase (a.k.a., UGDH or UDPGDH). This protein converts UDP-glucose into UDP-glucuronate, which is a precursor in the synthesis of glycosaminoglycans (GAGs). It is thought that pathogenic variants in UGDH (primarily, missense mutations) disrupt the ability of GAGs to support brain development and communication between brain cells.
Jamuar syndrome is an autosomal recessive condition. Affected individuals present with global developmental delay, speech impairment, intellectual disability, and epilepsy. Epilepsy patterns can be highly variable among patients.
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The UGDH Foundation Launches
The same year that the groundbreaking study in Nature was published, Connor was born. Like Thad, his challenges began immediately, but it still took several months to get diagnosed with Jamuar syndrome. Connor experienced developmental delay, intractable seizures, hypotonia, feeding intolerance, and respiratory distress. After his passing on October 14, 2021, his mom, Alyssa, knew it was time to do something more in his honor.
That’s when she connected with Thad’s parents, Jake and Rebekah. Now that these families had a name for the disease, they could have a mission. In 2022, Alyssa, Jake, and Rebekah, along with others, formed The UGDH Foundation so an engine existed for patient networking, fundraising, and scientific collaboration for the advancement of better treatments and a cure for Jamuar syndrome.
The UGDH Foundation Today
As of August 2025, our patient network includes 25 families from at least nine countries. We are aware of 11 cases in the United States and some dozens worldwide, though we expect it is underdiagnosed. Some of the patients in our network are affected as profoundly as Connor and Thad; others are walking, eating by mouth, and able to say some words.
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Much is still unknown about the disease mechanism and genotype-phenotype correlation. We’re immediately focused on building our patient family network and promoting natural history collection. We also had a very successful fundraising campaign in 2025 with the Orphan Disease Center Million Dollar Bike Ride. Because of this, we are offering our first grant for research in fall 2025. Our excellent and motivated Scientific Advisory Board is assisting us with the development of a UGDH-specific research roadmap.
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As challenging as it is to confront Jamuar syndrome, it’s an exciting time for rare disease research. Tools and collaborations exist today that didn't just a few years ago. This new era doesn't mean the path to better treatments for Jamuar syndrome will be easy. But it won't be futile.
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We're doing this because we love our kids, and love always hopes.
Board of Directors
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
West Virginia, 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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