CTNNB1 FOUNDATION

Who are we fighting for?

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

»All kids need a little help, a little hope, and someone who belives in them.»
-Magic Johnson-

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.

Help us support our cause!

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

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