Today’s #GeneOfTheDay is #Frrs1l. Human diseases associated with this gene include Epileptic Encephalopathy. Mice with this gene inactivated exhibit abnormal gait & limb grasping: bit.ly/Frrs1lgene

GENE THERAPY - the replacement of a defective gene in an organism. Recombinant DNA techniques are used to isolate the functioning gene and insert it into cells. By 2030, hundreds of gene disorders will be successfully treated by gene therapy. 💣

Our daughter Olivia suffers from FRRS1L disorder. This is a devastating disorder which results in severe epilepsy and loss of function. Gene therapy development for this disorder has shown promising results- a cure is within reach! 💜

Please watch to learn more about our hope for a cure! #FRRS1L youtu.be/xtBpLmNpC0U?fe…

Please share to help us fund development of genetic therapy for FRRS1l disorder. FRRS1l is devastating pediatric disorder which causes complete loss of function. We are close to a cure! Donate at FRRS1L.org

Become a FRRS1L ambassador and join our team to help fundraise for the development of genetic therapy for FRRS1l disorder. FRRS1l is devastating pediatric disorder. We are close to a cure! Find out more at: FRRS1L.org

Our beautiful daughter Olivia inspired us to create the Epilepsy Journal App. Olivia suffers from a rare genetic disease called FRRS1L mutation (frizzle)

Over the last 3 years families affected by FRRS1L (frizzle) from around the world have been working tirelessly to raise money for the development of a gene therapy for frizzle #FRRS1L

The development of a gene therapy for FRRS1L (frizzle) has reached its final stages! Our current goal is to reach $1.1 million by Dec. 31 to fund the toxicology study (to prove treatment safety) All donations made until Dec 31 will be 100% matched! frrs1l.org/givinghope

Thank you!! ❤️❤️

Celebrating Giving Tuesday by donating to FINDING HOPE FOR FRRS1L! FRRS1L.org

Last Rare Disease Day, I found myself urgently trying to reach Senator Sanders and his team, who posed the biggest threat to preserving the Priority Review Voucher (PRV) program. The devastation I felt when Senator Paul, stating that his senatorial obligations had run their

Rare Disease In Crisis, Our Leaders Have Failed Us! On April 2nd, 2019, a piece of my soul was taken from me. That was the day my youngest son, Michael, was diagnosed with a rare disease called SPG50. In my darkest moments, friends, family, and strangers from around the world

Thank you all for your messages and the incredible wave of support. The past three months have been the hardest of my life. We’ve lost all avenues of funding, and years of hard work preparing for our trials came to a halt within days of the new U.S. government administration.