Gemin5.org is a patient-led nonprofit organization dedicated to providing advocacy, support, and community for those affected by Gemin5-related disease.
Our Mission
Our mission is to raise awareness and support research of Gemin5-related disease.
Our purpose is to connect patients and families to each other and to the research community to create a collaborative network dedicated to advancing the understanding of GEMIN5 gene mutations.
Our vision and long-term goal is the availability of life-improving treatment options and with hope, a cure for Gemin5-related disease.
Brief History
If you, your patient, or a loved one has recently received a genetic testing result with GEMIN5 variants, you are in the right place and you are not alone.
Gemin5.org is a new patient-led organization many years in the making, formed by the parents of two children with GEMIN5 mutations who went years without knowing the cause of their children’s condition. We have learned that it takes a village to raise a family and we are determined to create a community of support for people affected by Gemin5-related disease.
GEMIN5 is a gene that has only recently been linked to a wide variety of severity and symptoms, including:
• Cerebellar volume changes
• Ataxia
• Cognitive impairment / developmental delay
• Hypotonia
• Seizure or Epilepsy
Our community owes a tremendous debt of gratitude to Dr. Deepa S Rajan, MD, at Children’s Hospital of Pittsburgh (CHP) of the University of Pittsburgh Medical Center, and her research colleague Dr. Udai Pandey, PhD, who have been diligently working together since 2016 to understand and describe the condition associated with mutations in the GEMIN5 gene. Learn more about GEMIN5 here.
In 2021, the CHP team published a paper in Nature Communications, Loss of function mutations in GEMIN5 cause developmental disorder, providing evidence that “pathogenic variants in GEMIN5 perturb physiological functions and result in a neurodevelopmental delay and ataxia syndrome.”
Advocacy * Support * Community
This “disease discovery” publication is a huge milestone on a long road to realizing our vision of life-improving treatment options and a cure for our loved ones. Newly discovered rare disorders like GEMIN5 take many years of basic scientific research in the lab and a natural history study of patients in the clinic to gain a better understanding of the disease. Translational research builds on basic science with the goal of new therapeutic discoveries, taking science from “bench to bedside”. Gemin5.org exists to raise awareness and accelerate this process by bringing patients, clinicians and researchers together to work towards our mission, vision and purpose. If you have a GEMIN5 diagnosis, you can join the collaboration by contacting Children’s Hospital of Pittsburgh’s Center for Rare Disease Therapy a www.chp.edu/rarecare, 412-692-RARE, or rarecare@chp.edu. (About Gemin5 page) and filling out Gemin5.org’s basic patient-led registry – coming soon!
As information about GEMIN5 mutations begins to circulate the medical and scientific communities around the world, we expect our patient community to grow. To that end, Gemin5.org also exists to empower patients and families by providing a safe space for families to connect, share their stories, support one another, find the latest information related to the condition, and get involved. Take the first step by joining our private Facebook support group for GEMIN5 families (https://www.facebook.com/groups/Gemin5support/) and our public Facebook group Gemin5.org for news and updates (https://www.facebook.com/GEMIN5ORG/).
Thanks to other patient-led organizations that have come before us, we understand that collaboration and efficient communication between patients, clinicians and researchers is the key to building a global research network capable of realizing our vision and long term goal of the discovery and development of life-improving treatment options for our loved ones, and with hope, a cure. Will you join us?
Join Us
Whether you are a patient, a loved one or a medical or research professional, we are your source for the most thorough and up to date information on GEMIN5. Find out how you can get involved in the collaboration.