Using translational approaches that encompass genomic studies, biomarker development, disease modeling, natural history studies, and clinical trials, Dr. Vanderver seeks to improve the quality of life and lifespan of individuals living with leukodystrophies or heritable disorder of myelin. She leads the Leukodystrophy Center of Excellence at Children's Hospital of Philadelphia.
Dr. Ahrens-Nicklas works to understand why patients with inherited biochemical disorders often suffer severe, untreatable neurologic and cardiac symptoms. She strives to elucidate the link between biochemistry and network excitability, in order to drive new approaches to therapy.
Dr. Loomes' research is focused on clinical and translational studies in pediatric liver disease. She works with National Institutes of Health-funded national consortia to conduct studies investigating the etiology and treatment for rare pediatric liver diseases including biliary atresia, Alagille syndrome, and others. Dr. Loomes also collaborates with other investigators at Children’s Hospital of Philadelphia to investigate genetic causes of pediatric liver disease.
Dr. Young’s translational research program aims to understand mechanisms underlying interstitial and rare lung diseases and develop new strategies to treat these disorders. Her laboratory focuses on the roles of epithelial cells in alveolar homeostasis, injury, and repair.
Where Discovery Leads is a multimedia storytelling project that delves into key research themes at CHOP Research Institute. This is part one of a three-part series that focuses on novel diagnostic tools and approaches being developed under the leadership of the Center for Autism Research at CHOP. See part 2 and part 3 of the series.
Editor's Note: This occasional blog series features stories of CHOP research heroes who have participated in clinical research studies. Without the generosity and dedication of families, patients, and members of the public who take the time to be a part of research, many trials would not succeed.
Six-year-old Brynn Clare Connor has never spoken a word in her life, but
Welcome back to another weekly edition of our roundup of research news from The Children's Hospital of Philadelphia! One of the things that is so exciting about research at CHOP is that our researchers are working to improve the health and lives of children in such a broad range of ways.
The Ahrens-Nicklas lab combines translational studies in patients with molecular, biochemical, and electrophysiologic studies working with animal models to develop novel therapies for rare inherited pediatric disorders.