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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.

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Board of Directors

Our board of directors includes parents of children diagnosed with Jamuar syndrome and individuals with full-time nonprofit experience.  

ARDEE COOLIDGE

West Virginia, United States

Ardee Coolidge is Director of Optimization for NextAfter and specializes in managing digital marketing and fundraising campaigns. 

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 fifteen 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. 

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.

Scientific Advisory Board

The foundation's Scientific Advisory Board is made of genetic researchers, clinicians, and counselors who all have first-hand experience working with patients affected by Jamuar syndrome.

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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,” Nature Communications (January 2020).

DR. KRISTIN BARAÑANO

Baltimore, Maryland

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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

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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.

Our Journey So Far

2020

JAMUAR SYNDROME BECOMES A DIAGNOSIS

A groundbreaking study is published in Nature Communications, establishing a missense mutation in the UGDH gene as the cause of specific symptoms. The disorder is named after clinical geneticist Dr. Saumya Jamuar, who identified the first patients with the disease.

2022

THE UGDH FOUNDATION IS ESTABLISHED

The UGDH Foundation is incorporated as a nonprofit organization in West Virginia, United States.

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