Dr. Jerry Vockley was the featured speaker at our first “Coffee Talk” on Tuesday, July 1st. The Coffee Talks are a new concept for PSVP. Our goal is to provide opportunities across the county where our partners are clustered, to connect and have an informal discussion on a topic that relates to our work — directly or indirectly. Jerry and John Denny just spent a week together at boy scout camp with their sons and talked about Jerry sharing a bit about the work he and his team do right here in Pittsburgh.
Jerry is a very interesting person who grew up in the region, left for school, then residency, then genetic research work in other cities. He was actively recruited to Pittsburgh by Children’s Hospital to start a pediatric/genetic research center. Eventually, Jerry and his team will be housed in the new Children’s Hospital building in Lawrenceville. Genetics research is associated with pediatrics because genetic problems/defects typically manifest themselves at or near birth. If it is a non-lethal defect, you typically don’t see it in an adult until it manifests itself in the child. No way to detect genetic defects unless you know what you’re looking for.
Some of the most common: PKU, no enzyme to use amino acid. Led to newborn screenings – heel swipe. Children’s Hospital of Pittsburgh serves a catchment area of roughly 5M people and only 130 people have PKU in this area. The health systems in general are good at getting services for kids, not adults. Seeing more and more children getting into early adult hood that wasn’t possible just a few years ago. You tend to stay with your geneticist as you grow older; not to an internist (adult).
New development of national collaborations to develop tests for specific disorders. Jerry is leading one of the collaborations. Can’t cure; typically treat the symptoms. Many can be addressed by dietary manipulation, which is not covered by insurance. Can run between hundreds and thousands of dollars per month.
Recognition of these disorders is becoming higher; there hasn’t been an increase in genetic mutations. You hear more about these diseases because of the increasing ability to diagnose. Diagnosis is the sorting out of the mistakes at the gene level. Most of the diagnoses weren’t even possible 10 years ago. Computers are accelerating everything in biology. Stem cell research is one option. If the defect can be isolated to one type of cell, then maybe there’s a way to cleanse the blood of the toxin – liver transplant. Some disorders appear in every cell — eventually will need to develop drugs to counter the effects of the defects.
Where does Pittsburgh fit into the genetic disorder field? In some areas we are among the leaders: Gene therapy, stem cell research, multi-factorial disorders. It’s a great place for bio-engineering with Pitt & CMU collaborations. Gene therapy is tougher than anyone every guessed.
Prior to Jerry’s arrival in Pittsburgh, there was no interest in clinical genetic disease — it’s a money loser. It’s all about the dollars for research. If you have a high profile advocate that helps raise money for research. The biggest way to have an impact is parent advocacy. Example, Oregon. A bill to support MCAD research was log-jammed in the state legislator. A parent gave testimony, bill passed.
Some cities have tremendous resources to bear on research — faculty who have research interests. Leaders in the field are typically Children’s of Boston, Children’s of Philadelphia, Washington University (St. Louis), UCLA.