Derek Neilson, MD
Dr. Derek Neilson, MD, implemented an adult learning session about Ehlers Danlos Syndrome in order to provide education to adult patients, families and medical providers.
Dr. Neilson worked with a multidisciplinary team to establish that echocardiograms in children with Ehlers Danlos hypermobility are flawed in their methodology, leading to false positive results. It reveals that we do not need to monitor echocardiograms on a yearly basis, which is a significant cost savings.
Howard M. Saal, MD, FACMG
Dr. Howard Saal participated in the pivotal trial of asfotase alfa for perinatal and infantile hypophosphatasia, a life threatening bone disease. This trial successfully demonstrated that this drug can transform the lives of treated infants and children, improving bone mineralization and prolonging life. It also demonstrated that survivors with severe disease may develop significant tracheobronchomalacia, which will impact future airway management.Elizabeth Schorry, MD
Through an important collaboration between the Divisions of Human Genetics, Oncology, and Experimental Hematology and Cancer Biology, along with members of the national Neurofibromatosis (NF) Consortium, we have completed a clinical trial of the MEK inhibitor Selumetinib for children with NF1 and large plexiform neurofibromas. This is the first study to show shrinkage of plexiform neurofibroma tumor volume by targeted therapy in NF1.
An additional important accomplishment is the study of MRI screen in children with NF1. This study showed that visual outcome may improve in children who have baseline MRI imaging in early childhood, compared to those who are screened only with ophthalmology exam.