In August 2016, our co- founders Luke Rosen and Sally Jackson’s two-year-old daughter, Susannah, was diagnosed with a rare, neurodegenerative disease called KIF1A Associated Neurological Disorder (KAND). There is no cure or treatment for this condition, and the lack of information and resources available to KAND families left them desperate to find treatment for Susannah.
KIF1A.ORG was created to help other families affected by KAND and fund research for a cure. We received our 501(c)(3) nonprofit status in March 2017.
First Family Meeting
Initially, all communication amongst families affected by KAND were powered through our private virtual support group. We still use the group to stay up to date, ask questions, and share stories and advice, but we took it a step further. With help from the team at Columbia University Medical Center, 10 families came together to share information and create an urgent plan to find treatment for our children. We had our first family meeting in April 2017.
Families were able to meet and connect with researchers studying the disorder in person to learn more about KIF1A, ask questions and share their experiences. Through the family meeting, we developed our vision: care until the cure.
KIF1A.ORG’s priorities are:
- Expanding a global community of families, and engaging the scientific community to inspire new research
- Growing the KAND Natural History Study a systematic collection and analysis of comprehensive, longitudinal data collected from families diagnosed with KAND
- Securing mouse models and cell lines to test potential therapeutics
- Developing tools and a treatment development process to efficiently partner with pharmaceutical and biotech companies
- Raising funds to accelerate research for treatment and a cure
Wendy Chung, MD, PhD and her team from Chung Lab at Columbia University have been our research partners from the very beginning. Dr. Chung is a leader in rare disease research, and families with nowhere else to turn are often referred to her seeking care and an end to the diagnostic odyssey. Such was the case with Susannah Rosen. After meeting the Rosen family and understanding the progressive nature of this disease, Chung and her team urgently set out to find treatment and a cure for KAND.
All pre-clinical research on KAND, including the Natural History Study, disease models and a pathway to gene therapy and drug development, is spearheaded by the team at Chung Lab.
The first stage in discovering treatment for KIF1A is to identify the reason mutations in the gene cause disease. For KIF1A, that disease is neurodegenerative and has no treatment options. To understand why our children are so sick, we needed a mouse model with the same genetic mutations in KIF1A that affect our children.
Our mission for a mouse led us to the dedicated and supportive team of scientists at The Jackson Laboratory. It all started with a video. When we began this journey, we learned that the scientific community was missing a vital pre-clinical tool; something that we need desperately to find a cure for our kids: a KIF1A mouse model. So we made a video. The first video was a call to action answered with a strong and collective voice. KIF1A families from around the globe banded together and told the world that “We need a mouse!” Within days the videos went viral. We connected with advocates, friends and the dedicated scientists at JAX.
Impressed with our video campaign to fund a mouse model and touched by stories from KIF1A families, the JAX team joined forces with our researchers and covered the cost to develop KIF1A mouse models. The community mobilized early and, with the help of our partners at JAX, accomplished the first of many missions on the way to treatment: a mouse.
Rare Disease Advocacy Partners
KIF1A.ORG wouldn’t be possible without rare disease advocacy organizations like our partners at the National Organization for Rare Disorders, Global Genes, and The Mighty. These rare disease leaders offer support, guidance and resources to families affected by KIF1A Associated Neurological Disorder, our foundation and community.
We’re making progress every single day and getting closer to treatment. In just two years our community has grown exponentially proving KIF1A Associated Neurological Disorder (KAND) is a drastically under-diagnosed disease. The window of opportunity to help our kids gets smaller everyday but our superheroes forge ahead, and we’re right behind them. We need your help.