After years-long quest, researchers crack mystery of illness that stalked family
After a lifetime of wondering and waiting for an answer to the cause of the illness that stalked a family in Houston, Texas, researchers discover the answer.
It would be two physicians, in different parts of the country, researching links between autoimmunity and lung disorders who would identify the genetic link. Dr. Anthony Shum, professor at the University of California and Dr. Leland Fan a pediatric pulmonologist in Texas finally working together on the puzzle. The results, after genetic testing of the members of two families with the disease, were a genetic mutation of the COPA gene. The COPA gene is responsible for producing protein and the mutations seemed to be crippling that protein causing an autoimmune response.
In April of 2015, the results were published in the journal Nature Genetics, giving families who suffer from the disease the answer they sought for a lifetime. For Victoria Bolin, a 21 year old who herself suffers from the effects of the disease, she now has a name to pin on her disease and a starting place for development of drugs to treat it.
To read the full article view the link below