The KIF1A community has huge impact on pace and progress. Our mission is clear and our actions are swift. KIF1A.ORG exists to eliminate challenges for families affected by KIF1A Associated Neurological Disorder through open communication and accurate information. KIF1A families are relentless in driving discovery and empowering community.
Countries Represented: 20+
Families Represented: 200+
Donated to KIF1A Research: $300,000+
KAND is a rare disorder. This diagnosis comes with a lot of questions, but not many answers. There are now over 200 people diagnosed with KIF1A Associated Neurological Disorder (KAND) and that number is growing at a rapid pace. Families from more than 20 countries are members of KIF1A.ORG, proving a global unmet need for diagnostic tools, awareness and treatment options.
In January of 2019 we received a phone call from our youngest daughter’s genetic counselor, explaining that Abigail had KIF1A Associated Neurological Disorder. With only a brief explanation, and 2 months until our appointment with her doctor, we understood little about the realities of this diagnosis. Due to the accessibility of KIF1A.ORG, we found this site and were equipped with details about her disease. We were instantly connected to families and researchers, who have supported us and have enabled us to better care for Abby.
— The Gogel Family
KIF1A.ORG is the only organization driving research to treat and cure KAND. To date, our superstar supporters have helped raise more than $300,000 to accelerate research on KAND. This funding supports an innovative research strategy leading to treatment. KIF1A.ORG research milestones include:
- A Natural History Study with over 100 documented cases of KAND
- Mouse models allowing scientists to test potential therapeutics and understand the progression of disease
- Induced pluripotent stem cells (IPSCs) used to study cell regeneration
- A biobank of tissue and blood samples for use in research
The parents behind KIF1A.ORG have shown incredible leadership and epitomize the powerful partnerships that are possible to accelerate research to find new treatments for rare genetic diseases. They have catalyzed the community to make advances in KIF1A that will help us understand not only KIF1A Associated Neurological Disorder but also other related genetic conditions.
— Wendy Chung, MD, PhD., Columbia University Medical Center
The Driving Force: An Active Community
In 2019, KIF1A.ORG is hosting a family and scientific conference to connect and empower our community. Families, researchers, medical professionals and advocates will join forces to inspire progress and create lasting relationships. To help make this event possible, we’re thankful to have received the following:
- $49,500 awarded by the Patient-Centered Outcomes Research Institute to support the KAND Family and Scientific Engagement Conference in August 2019
- $10,000+ raised to establish the KIF1A.ORG Family Travel Fund to help families with complex medical needs travel to New York and attend the conference
KIF1A.ORG thanks our key partners and rare disease leaders who support our progress. Through these partnerships more families are being diagnosed and research is moving at a rapid pace. We’re a stronger community and research is moving at a rapid pace.
KIF1A.ORG has grown impressively and continues to admirably support and represent the KIF1A community. Here in Washington, D.C., KIF1A.ORG reliably supports not only their own community in policymaking conversations, but contributes a valuable voice to discussions on how best to improve the lives of the 25-30 million Americans living with a rare disease.
— Paul Melmeyer, Former Director of Federal Policy at National Organization for Rare Disorders
It has become critically important for patient organizations to be prepared partners for future research and drug development collaborations. Luke Rosen and the KIF1A community have become an important example of a progressive and readied patient community. Luke has helped coordinate patients and families within the KIF1A disease community, has built early collaborations with clinical researchers, and has educated and prepared the community to be readied to participate in research efforts.
— Nicole Boice, Founder & Board Member at Global Genes