We are committed to raising funds to support research for treatments and a cure for CTNNB1 Syndrome. While the medical journeys that our children undergo are often full of the unknown, rare disease organizations and medical researchers around the world have helped chart the course that we need to take to get to our end goal.

Our Research Priorities

Boston Children’s Hospital’s Wendy Chung, MD, PhD, serves on our Scientific Advisory Board. In the video below, she outlines the steps that we need to take to find a cure for CTNNB1 Syndrome. This process also aligns with our research priorities, which include:

  • Developing a comprehensive Patient Registry and Natural History Study that documents our children’s mutations, developmental milestones and clinical data
  • Growing a colony of mice (also known as a mouse model) with a whole body deletion of one copy of the gene to understand how different gene mutations lead to differences in molecular and functional changes
  • Defining the molecular and functional changes caused by the full body deletion of one CTNNB1 allele
  • Developing human derived neurons to asses the molecular changes and effectiveness of treatment approaches as identified in mouse model studies
  • Partnering with biotech and pharmaceutical companies to advance the development of treatments

Meet Michele H. Jacob, Ph.D.

Michele Jacob, Ph.D. is a Professor in the Department of Neuroscience at Tufts University School of Medicine in Boston, Massachusetts. She received her B.S. in biology from City College of New York, her Ph.D. from Yale University in cell biology, and she completed postdoctoral training in neurobiology at Columbia University and at The University of California, San Diego. She then headed her own laboratory in the neurobiology group at the Worcester Foundation for Biomedical Research, prior to moving to Tufts University. Dr. Jacob, along with her lab’s postdoctoral scholar, Jon Alexander, is dedicated to working with CCC to advance the design of new and effective treatment strategies.