Genetics

Dr. Bob Erickson recently was part of a team that cloned the gene that causes Athabaskan Brainstem Dysgenensis, a genetic disease found in some Native American populations.

Christopher Cunnifff, MD, is trying to accurately determine the incidence of autism spectrum disorders, muscular dystrophy, and fetal alcohol syndrome. He has built a large team to investigate hospital records, school records, and county and state agency records to precisely determine how many children are affected with these serious diseases.

Bob Erickson, MD, has played a major role in the recent discovery of the gene for a rare form of devastating facial clefting and is using the newest methods (total genomic sequencing) to search for more disease genes.  He is particularly focused on rare, recessive genes affecting local Athabaskan Native Americans.

Dr. Erickson is also working to fully understand the molecular underpinnings of Niemann Pick Type C (NPC), a rare genetic disease. The gene responsible for the disease has been isolated and now Dr. Erickson is trying to fully understand the function of the protein expressed by the NPC gene.

"NPC is a gene that's present in every cell in our bodies, but only certain cells require the protein produced by the gene," Dr. Erickson says. "This is the reason that some cells, like liver and brain cells, are affected by this condition. Understanding the function of the NPC protein will help to find medications that may correct the dysfunction."