Darcey GAND Awareness fundraiser
Neil Ware is raising money for Helping Hands For Gand Inc
Story
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Darcey was recently diagnosed with this rare syndrome which effects a small amount of people in the world.
Darcey so far is 1 of 178 in the world to have this rare disease
We want to raise money to help fund further research and help support others
https://www.gatad2b.org
GAND stands for GATAD2B-associated neurodevelopmental disorder. The GATAD2B gene is located on chromosome 1 (at 1q21.3) and is an important gene for normal cognitive development. Most patients so far identified have had intellectual disability, low muscle tone, apraxia of speech, strabismus, macrocephaly, and distinct physical characteristics, including a high wide forehead/frontal bossing, tubular-shaped nose with broad nasal tip, and short philtrum. Many of these children have experienced feeding difficulties, particularly in infancy.
Nearly all cases of this disorder occur through a de novo (i.e., new) mutation in the GATAD2B gene and are, in these cases, not inherited from either parent. However, affected siblings are possible and have been noted in identical twins and in rare cases when one of the parents has low-level mosaicism, meaning that a small percentage of the cells within that person have a different genetic makeup. Children of individuals with GAND would have a 50% chance of sharing the disorder.
A collaborative project between Dr. Tyler Pierson of Cedars-Sinai Medical Center and Dr. Juan Young of the University of Miami seeks to use human cellular and mouse models of GAND to further characterize and understand this rare disorder. They also aim to eventually develop methods of screening potential therapeutic compounds that may ameliorate symptoms of GAND. Helping Hands for GAND has awarded $60,000 in research grants to support this important work. With your help, we hope to continue supporting this essential project! Drs. Young and Pierson provide more details about their studies
Darcey was recently diagnosed with this rare syndrome which effects a small amount of people in the world.
Darcey so far is 1 of 178 in the world to have this rare disease
We want to raise money to help fund further research and help support others
https://www.gatad2b.org
GAND stands for GATAD2B-associated neurodevelopmental disorder. The GATAD2B gene is located on chromosome 1 (at 1q21.3) and is an important gene for normal cognitive development. Most patients so far identified have had intellectual disability, low muscle tone, apraxia of speech, strabismus, macrocephaly, and distinct physical characteristics, including a high wide forehead/frontal bossing, tubular-shaped nose with broad nasal tip, and short philtrum. Many of these children have experienced feeding difficulties, particularly in infancy.
Nearly all cases of this disorder occur through a de novo (i.e., new) mutation in the GATAD2B gene and are, in these cases, not inherited from either parent. However, affected siblings are possible and have been noted in identical twins and in rare cases when one of the parents has low-level mosaicism, meaning that a small percentage of the cells within that person have a different genetic makeup. Children of individuals with GAND would have a 50% chance of sharing the disorder.
A collaborative project between Dr. Tyler Pierson of Cedars-Sinai Medical Center and Dr. Juan Young of the University of Miami seeks to use human cellular and mouse models of GAND to further characterize and understand this rare disorder. They also aim to eventually develop methods of screening potential therapeutic compounds that may ameliorate symptoms of GAND. Helping Hands for GAND has awarded $60,000 in research grants to support this important work. With your help, we hope to continue supporting this essential project! Drs. Young and Pierson provide more details about their studies