D. Brian Dawson, PhD

Dr. D. Brian Dawson, PhD, began integration of clinical cytogenetics and molecular genetics laboratories within the Division of Human Genetics. In order to achieve integration, initiated multiple activities included: A Pulse survey of clinical lab directors by clinical technologists, consolidation of Cytogenetic and Molecular Genetic DNA extractions, a visit to Mayo medical labs with key lab members to help inform opportunities for automation/process improvement, formation of teams for communications, recognition and remote reporting in response to Pulse Survey, started LGG management monthly meetings, started working with Cincinnati Children's Human Resources to develop a comprehensive plan for clinical laboratory director development, and started planning for renovations to improve workflows/integration and LIS replacement with Cerner Epic.

Lisa J. Martin, PhD

In a groundbreaking study, researchers from Cincinnati Children’s and Medical College of Wisconsin joined forces with investigators from the University of Pittsburgh School of Medicine to combine genomic studies in humans and mice. Using a novel statistical approach, developed by Dr. Lisa Martin, PhD, the researchers were able to demonstrate that there is significant overlap between the genes identified in mice and humans. This study, published online May 22, 2017, in Nature Genetics, is the first to demonstrate a shared complex genetic etiology between human and mouse. This work is an essential step towards moving beyond the current surgical interventions to alternative strategies that may improve long term outcomes.

Carlos Prada, MD

In August 2016, we began the Rasopathy Clinic in the Division of Human Genetics at Cincinnati Children's. As of June 2017, the division evaluated over 150 patients in our clinical program. There has been expansion to the current molecular panel for RASopathies in the institution from 12 to over 20 disease-associated genes, expanding the ability to confirm a diagnosis in our program. However, 30% of patients remained without an identifiable causative gene, while many others have variants of uncertain significance in known genes.

This year, we received a Center for Pediatrics Genomics grant to further study novel approaches to diagnose and follow-up our patients with RASopathies. There are some candidate genes for novel RASopathies that will receive validation with animal models in collaboration with our team of basic scientists, Drs. Nancy Ratner, PhD, and Steve Wu, MD (tumors); Dr. Ronald Waclaw, MS, PhD (brain); Dr. Joshua Waxman, PhD (heart): and Dr. Robert Hufnagel, MD, PhD (eye).

Ying Sun, PhD

In collaboration with Dr. Chuanju Liu, PhD, a professor at NYU, our study identified progranulin as a biomarker and new therapeutic target for Gaucher disease. The recombinant progranulin reversed most effects of Gaucher disease in mouse and human cells and mouse tissues. Our results provide a new treatment option for inherited Gaucher disease. The published study is in EBioMedicine, and reported in Science Daily. Our NIH R01 grant application of determining the precise mechanism by which progranulin diminish Gaucher disease received Impact Score 25 and 10th percentile in NINDS TAG study section.

Partnering with two corporations, Sanofi Genzyme and Lysosomal Therapeutics, we developed new blood brain barrier penetrant small molecules for neuronopathic Gaucher and Parkinson’s disease. These are the first treatments which address neuronopathic components of these diseases. Both drugs are currently in Phase I (Lysosomal Therapeutics), and Phase II (Sanofi Genzyme) human trials.