Genetic testing gave Theresa Taylor the information she needed about her Leber congenital amaurosis, and inspired an advocacy trip to Capitol Hill. Read more
Understanding how genes, DNA and proteins lead to inherited retinal disease.
While the science of genetics might not actually be rocket science, it’s just as complex. We checked in with a genetic counselor, and asked her to explain how genes, DNA and proteins create the “blueprint of you.” Read more
Here’s the story of Janet LaBreck, who was one of four siblings born with retinitis pigmentosa. Janet rose above tremendous physical and financial limitations to eventually become President Obama’s Commissioner of the Rehabilitation Services Administration. Read her story
My Guide Dog and Me: A Renewed Sense of Independence with Retinitis Pigmentosa
Becky Andrews, diagnosed with retinitis pigmentosa at 18, found a new freedom in life when she decided to partner with a guide dog. Photo courtesy of Guide Dogs for the Blind.Read more
Are you ready for Rare Disease Day 2017?
Approximately 30 million Americans are affected by rare diseases, which is why every year on the last day of February, we celebrate “Rare Disease Day.” Raise your voice to raise awareness! Here’s how
At Spark, we are continually talking to patients and their families to understand the needs of the IRD community. You told us you wanted help with genetic testing, and here’s what happened next. Read story
An IRON[WO]MAN takes on choroideremia.
Throughout her pregnancy, Stephanie, whose father has choroideremia, waited for the other shoe to drop. She was a carrier; would her son also have the disease? When that shoe did drop, she put it on, started running, and hasn’t stopped since. Read more
Solving the mystery of us.
Two moms—one who has retinitis pigmentosa (RP), and one who is raising a daughter with a form of Leber congenital amaurosis (LCA due to mutations in the IQCB1 gene)—talk about the importance of genetic testing. Watch video