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.

Melanie Myers, PhD, MS, LGC

Dr. Stephanie Myers is developing tools used across the organization as a growing number of specialties incorporate genomics into their clinical practices and programs of research. To promote patient/family shared decision making, Dr. Myers led an interdisciplinary team which included parent representatives to develop a decision aid to help patients and families make informed decisions about learning or not learning secondary findings when offering whole exome sequencing for clinical purposes. Dr. Myers and her team received funding from the Center for Pediatric Genomics to develop a decision aid and complimentary just-in-time instruction resources to enable researchers to facilitate shared decision making when offering participants the option to learn genomic research results.

Ying Sun, PhD

The Sun lab received funding from Genzyme studying CNS-accessible inhibitor of glucosylceramide synthase for substrate reduction therapy (SRT) on genetic Gaucher disease mouse model. Our study demonstrated significant CNS efficacy of SRT Genz-682452 in ameliorating Gaucher disease that holds promise as a potential therapeutic approach for patients with CNS type Gaucher disease. Genz-682452 is in the Phase II clinical trial for type-3 Gaucher disease patients.