The National Organization for Rare Disorders (NORD) awarded Dr. Jerry Vockley with the prestigious Medical and Scientific Trailblazer Award at the Rare Impact Wards. Rare Impact Awards recognize individuals driving progress for rare diseases. Dr. Vockley serves as director of the Center for Rare Disease Therapy and chief of the Division of Genetic and Genomic Medicine.
Dr. Vockley was presented the award in the Scientific and Medical Trailblazer category during the NORD Rare Disease Scientific Symposium. Held in Washington, D.C., the event gathers individuals from medicine, regulatory agencies, patient advocacy groups, and industry to help accelerate breakthroughs for rare disease. Dr. Vockley was specifically recognized for his unwavering commitment to clinical research, development of new therapies, and care of patients with rare genetic conditions.
Genetic Testing for All Undiagnosed Babies in the NICU
Dr. Vockley recently worked across hospital departments to implement a new initiative in the Neonatal Intensive Care Unit (NICU) at UPMC Children’s. Studies have shown that greater than 30% of unexplained disease in NICU babies is due to genetic disorders. Research conducted by Dr. Vockley and others has proven the advantages of broad-based genetic testing of undiagnosed NICU babies.
Genetic testing leads to earlier diagnoses and better treatments, resulting in an estimated $200,000 in health care savings per baby. More importantly, genetic testing in the NICU can offer much-needed clarity to families desperately seeking answers.
The Fast Precision Acute Care Expert Diagnosis (Fast PACE Dx) Program offers Rapid Whole Genome Sequencing (WGS) to every single baby admitted to UPMC Children’s NICU who lacks a definitive diagnosis.
WGS quickly and efficiently analyzes the baby’s DNA in as few as one to two days. While WGS in the NICU isn’t a perfect system — for some it might uncover diagnoses without current treatments available and for others it could provide inconclusive results — Dr. Vockley and his colleagues expect the initiative to significantly improve precision care for some of our most vulnerable patients. A recent Pediatric Insights webinar features Dr. Vockley discussing this initiative.
Dr. Vockley holds the Cleveland Family Endowed Chair in Pediatric Research. His research is fueled by many generous patient families from across the nation.
The Future of Pediatric Research Depends on You
Advancing pediatric research is a critical component of the mission of UPMC Children’s Hospital of Pittsburgh. Every day, our hospital’s research team of more than 500 scientists and physicians is working hard to unlock the care and cures of tomorrow. This work is accelerated by federal funding and private philanthropy alike.
Right now, there is much uncertainty about the future of federal research funding, specifically limits on indirect costs. These costs are critical to support research infrastructure. This includes building rent, utilities, shared equipment, maintenance of facilities, data management, information technology, compliance with research regulations, and administrative support.
Despite potential changes, UPMC Children’s can continue to be a beacon of hope for children and families with your help. Your donation symbolizes your commitment to the effort to revolutionize children’s health. Donate today.