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Archives for: May 20th, 2019

Deborah Skolaski: 2019 Rare Impact Award Honoree

Written by Christina Jensen on May 20, 2019

Houston native Deborah Skolaski is the loving grandmother of Cori, a seven year-old living with metachromatic leukodystrophy. MLD is a genetic disorder that affects the nerves, muscles and other organs, as well as behavior. Deborah felt helpless as she observed the struggles that her son, daughter-in-law and Cori… Read More

Largest-Ever Study of SYNGAP1 (MRD5), Linked to Autism, was Launched

Written by Jennifer Huron on December 23, 2016

Research study is open to participants worldwide to advance understanding and treatments for rare disease causing non-syndromic intellectual disability ranging from mild to severe with attention deficits, impulsivity, and/or mood disorders. Seventy to eighty percent of children with SYNGAP1 also have some type of epilepsy and the SYNGAP1 gene has… Read More