Tag: gene mutation

A total of 6 posts are filed under gene mutation
RARECast: A Quest for Tribe: Searching for Others with the Same Ultra-Rare Mutation
When Milo Lorentzen was born, concerns over his condition sent him to a neonatal intensive care unit where he spent the first ten days of… Continue Reading
New Study Investigates “Touch Blindness” as Potential Genetic Mutation
Two young patients with a rare condition have helped scientists unlock a better understanding of our sense of touch and what researchers… Continue Reading
Canadian Team Finds Root Causes for 146 Rare Childhood Diseases
The baby was born in 2008 with an unusually small head, dozens of tiny red birthmarks and uncontrollable seizures. No one had seen anything… Continue Reading
Mom Spreads Awareness About Rare SYNGAP-1 Gene Disorder After Son’s Diagnosis
In November of 2012 we found out that my son Beckett has been diagnosed with a very rare autosomal dominant disorder called SYNGAP-1 gene… Continue Reading
Special Little Girl with a Rare Disease has a Desire to Help Others
When I think back to the years before there was my husband, and before Meghan, my daughter, things tend to get blurry. Mostly everything… Continue Reading
Whole Exome Sequencing Identifies Mystery Gene in 3 year old Gavin Stevens
Gavin Stevens – age 3, was born with Leber’s Congenital Amaurosis (LCA).   LCA is a rare orphan disease that affects 3,000 individuals… Continue Reading

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