WHO WE ARE
This foundation is driven by the parents, researchers and doctors. We are all joint together to help children with CTNNB1 Syndrome get a better tomorrow.
OUR MISSION
Our mission is to cure CTNNB1 and to give our kids the opportunity to live fulfilling lives. We will not stop until we reach our goal.
RESEARCH
CTNNB1 Foundation is leading the worldwide gene therapy program for CTNNB1 Syndrome. Our first gene therapy program has already started!
FACTS ABOUT CTNNB1 SYNDROME
- CTNNB1 is the most common cause of misdiagnosed cerebral palsy.
- CTNNB1 is an autosomal dominant disorder, meaning the mutation of a single gene is enough to cause the disease.
- CTNNB1 Syndrome is in most cases not inherited but happens spontaneously or »de novo«.
- CTNNB1 gene encodes beta-catenin, which plays an important role in sticking cells together (cell adhesion) and in communication between cells.
- CTNNB1 affects nearly every aspect of a child's life, including the ability to walk, speak, think, and engage socially.
- CTNNB1 affects 1 out of 50.000 children worldwide and there is currently no treatment.
THE HOPE OF GENE THERAPY
CTNNB1 Foundation is proud to announce that our Gene therapy program for CTNNB1 has officially started! It will be conducted by Prof. Leszek Lisowski, a world vectorology expert with over 15 years of experience in developing and manufacturing viral vectors for human gene therapy from Children’s Medical Research Institute and Dr. Wendy Gold, a group leader of the Molecular Neurobiology Research Lab at the University of Sydney in Australia. This project is in a collaboration with Prof. Roman Jerala, the Head of the Department of Synthetic Biology and Immunology at the National Institute of Chemistry Slovenia.
We are also proud to announce that our observational study “Genotype-phenotype Correlations in Children and Adults With CTNNB1 Mutation” conducted by Prof. Damjan Osredkar is now published in ClinicalTrials.org.
We will work closely with both organizations ACCT (www.curectnnb1.org) and CSAW (www.ctnnb1.org) to benefit our kids best. ACCT is funding the work of dr. Michele Jacob, an expert on beta-catenin, whose work is focused on defining the underlying molecular changes and testing drug treatments to amend CTNNB1 Syndrome phenotypes using various models. CSAW is focused on creating awareness of CTNNB1 Syndrome, providing information about symptoms, diagnosis, treatment, and therapies, and connecting affected families.We NEED YOUR help to keep the research going.
OUR RESEARCH TEAM
Children’s Medical Research Institute and University of Sydney; Group Leader, Molecular Neurobiology Laboratory
Children’s Medical Research Institute and University of Sydney; Translational Vectorology Unit and Manager
University Children’s Hospital Ljubljana; Head of the Pediatric Neurology Department
National Institute of Chemistry Slovenia; Head of the Department of Synthethic Biology and Immunology
National Institute of Chemistry Slovenia; Researcher at the Department of Synthethic Biology and Immunology
National Institute of Chemistry Slovenia; Researcher at the Department of Synthethic Biology and Immunology
National Institute of Chemistry Slovenia; Researcher at the Department of Synthethic Biology and Immunology
National Institute of Chemistry Slovenia; Researcher at the Department of Synthethic Biology and Immunology
National Institute of Chemistry Slovenia; Researcher at the Department of Synthethic Biology and Immunology
Nina Žakelj, MD
University Children’s Hospital Ljubljana; Resident Doctor at the Pediatric Neurology Department
Italian Institute of Technology; Group Leader of the Neurobehavioural Genetics Group
Italian Institute of Technology; Post-Doc at the Neurobehavioural Genetics Group
Shivang Khandelwal
Indian Institute of Technology Jodhpur (BioTechnology), India
School of Life Sciences; Group Leader; Director of the Laboratory of Drosophila Research, Hong Kong
Aleksandra Foskinska
Hugh Kaul Precision Medicine Institute, School of Medicine, University of Alabama
Dr. Laura Lambert
Hugh Kaul Precision Medicine Institute, School of Medicine, University of Alabama, Genetics Research Devision
Prof. Dr. Matt Might
Hugh Kaul Precision Medicine Institute, School of Medicine, University of Alabama, Director and Chair of Precision Medicine
Dr. Andrew Crouse
Hugh Kaul Precision Medicine Institute, School of Medicine, University of Alabama, Director of Research and Operations
“As researchers, we do not accept that any disease is too hard to understand, or that any problem is too difficult to overcome. What we recognize, though, is that it takes time and money.”
Professor Roger Reddel AO
Sir Lorimer Dods Professor,
Sydney Medical School,
University of Sydney
Executive Director, CMRI
