Rare Disease Foundation CEO cites collaboration, data sharing as keys to progress

An interview with Monica Weldon, President of Bridge the Gap - SYNGAP Education and Research Foundation

Houston-based Monica Weldon is a mother, wife, former teacher and a rare disease advocate who founded Bridge the Gap - SYNGAP Education and Research Foundation. The Foundation reflects her passion to serve, educate and raise public awareness about SYNGAP, a neurological disorder that causes intellectual disability and severe developmental delays. She has five children. Her son, Beckett, a fraternal twin, has the rare genetic disorder.

A defining moment

Beckett began to show symptoms at four months old, and at 14 months she thought he began having seizures. Initial tests showed no abnormality, but Weldon, a former teacher with a science background and a naturally inquisitive nature, had intuition that the reasons behind her son’s condition were genetic. The only way to determine SYNGAP1 is through genome, whole exome DNA, or any type of genetic panel test. After consulting 19 specialists, Beckett was finally diagnosed at the age of five when a genetics clinic gave them their answer. Beckett was the first patient diagnosed at Texas Children’s Genetics Clinic in 2012, and was one of only six known diagnoses in North America. At the time, Weldon could find just one published paper on the association of SYNGAP1 mutations with nonsyndromic intellectual disability (NSID).

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