Smith-Magenis Syndrome

Meet Steven and Robyn Mogul. They are two individuals with no family history of developmental problems. Nor do either of them have any genetic mutations. And yet, their daughters, Hayley and Bari, have such a rare disease that scientists haven't even bothered to search for a cure. Both have a mutation in the RAI1 gene known to cause Smith-Magenis Syndrome. Bari has another rare mutation in the GRIN2B gene. It is hard to believe that two rare mutations are found within the same family. More so, they come from a family that has no prior history of genetic mutations. It begs the question of whether this disease can be inherited. And if not, how is this even possible? After all, the chance of obtaining this disease is 1 in every 25,000. Hayley is 15 and she has no motor skills. Bari is nine years old and doesn't speak. She still needs to drink from bottles. Here is disease that has severely affected their lives and that of their family and scientists don't aspire to find a cure. Their parents have allowed their cells to be tested in various facilities: Vasil Galat of Children's Hospital of Chicago, Northwestern University, National Institutes of Health’s Undiagnosed Disease Program ,and the New York Stem Cell Foundation Research Institute. No one expects for a miracle, but they do expect that this research will lead to a genetic break through. I believe they're right.