Our 5 year old has autosomal recessive homozygous TUSC3 (loss of function). I believe it’s 8p22, but not exactly sure. He had his genetic testing done at University of Rochester Medical Center in Rochester, NY. Hopefully this research will benefit him. We would love to see a drug repurposing study done and eventually curative gene therapy. Don’t know if there is a database where the geneticist has to submit the genetic information. There are at least 2 other males in the USA who also have this disorder.
Our 5 year old has autosomal recessive homozygous TUSC3 (loss of function). I believe it’s 8p22, but not exactly sure. He had his genetic testing done at University of Rochester Medical Center in Rochester, NY. Hopefully this research will benefit him. We would love to see a drug repurposing study done and eventually curative gene therapy. Don’t know if there is a database where the geneticist has to submit the genetic information. There are at least 2 other males in the USA who also have this disorder.