Paralympic Skier Danelle Umstead Teams Up with Spark Therapeutics to Help People Living with Inherited Retinal Diseases (IRDs) Access Genetic Testing
Paralympic, blind skierdeclared Eye Want 2 Know® and pursued genetic testing to uncover the genetic cause of her retinitis pigmentosa (RP), an IRD
At the age of 13, Danelle was clinically diagnosed with RP, a rare genetic eye condition that involves the breakdown and loss of cells in the retina eventually leading to complete blindness. Danelle currently has no central vision and is losing her peripheral vision.
People living with IRDs have often received a clinical diagnosis, like choroideremia (CHM), Leber congenital amaurosis (LCA), cone-rod dystrophy (CRD), retinitis pigmentosa (RP) or juvenile macular degeneration (JMD), which includes Stargardt disease. Genetic testing aims to unlock a genetic diagnosis, the specific gene mutation causing an IRD to progress to complete blindness. Without a genetic diagnosis, patients, families and health care professionals can be unprepared to determine the best disease management plan and evaluate gene-specific clinical trials or natural history studies.
“Like many people living with RP, an IRD, I was unaware of the genetic cause of my condition until I pursued genetic testing,” said Danelle, who is actively training for the next Paralympics. “With the encouragement of my family and friends, I pursued genetic testing by using the ’Find a Provider’ tool on the EyeWant2Know.com website, to locate a health care professional near me to help my family and me access genetic testing. While I was initially nervous about getting tested, the process was simple and uncovered the genetic cause of my condition. The knowledge that I gained through genetic testing about my specific mutation motivated me to share my story and become an advocate for genetic testing.”
Danelle urges others living with IRDs to declare “Eye Want 2 Know” and speak with their health care professional about genetic testing. Patients and families can also access the “Find a Provider” tool to identify a health care professional nearby to facilitate genetic testing of IRDs. Health care professionals can access ID YOUR IRD, a gene testing initiative which is part of Eye Want 2 Know that tests for variants in approximately 250 genes known to cause IRDs.
“Danelle’s determination and passion for life, as evidenced by her athletic accolades and advocacy among the IRD community, makes her an ideal ambassador for the Eye Want 2 Know initiative emphasizing the importance of genetic testing,” said,
Genetic testing may be able to identify the mutated gene responsible for vision loss. Once a health care professional orders the ID YOUR IRD test, he or she will collect a saliva or blood sample from a patient for testing. Results are available in approximately 14 days from sample receipt by the lab performing the testing. Armed with this important information, patients can work with their genetic counselor or health care professional to determine the best course of action for their disease. Optional genetic counseling is also available through ID YOUR IRD. Participation in ID YOUR IRD is subject to the terms and conditions of the program. Visit EyeWant2Know.com to get started.
About Inherited Retinal Diseases (IRDs)
Inherited retinal diseases (also known as inherited retinal dystrophies, or IRDs) are a group of rare eye disorders caused by various inherited gene mutations and can result in progressive vision loss or total blindness. Common IRDs include choroideremia (CHM), Leber congenital amaurosis (LCA), cone-rod dystrophy (CRD), retinitis pigmentosa (RP) and juvenile macular degeneration (JMD), which includes Stargardt disease.
About Spark Therapeutics
At Spark Therapeutics, a fully integrated, commercial company committed to discovering, developing and delivering gene therapies, we challenge the inevitability of genetic diseases, including blindness, hemophilia, lysosomal storage disorders and neurodegenerative diseases. We currently have four programs in clinical trials. At Spark, we see the path to a world where no life is limited by genetic disease. For more information, visit www.sparktx.com, and follow us on Twitter and LinkedIn.
CAUTIONARY STATEMENT REGARDING FORWARD-LOOKING STATEMENTS
This release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995, including statements regarding the company's Eye Want 2 Know program. The words ‘‘anticipate,’’ ‘‘believe,’’ ‘‘expect,’’ ‘‘intend,’’ ‘‘may,’’ ‘‘plan,’’ ‘‘predict,’’ ‘‘will,’’ ‘‘would,’’ ‘‘could,’’ ‘‘should,’’ ‘‘continue’’ and similar expressions are intended to identify forward-looking statements, although not all forward-looking statements contain these identifying words. We may not actually achieve the plans, intentions or expectations disclosed in our forward-looking statements, and you should not place undue reliance on our forward-looking statements. Any forward-looking statements are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in, or implied by, such forward-looking statements. These risks and uncertainties include, but are not limited to, the risk that: (i) Eye Want 2 Know does not ensure the IRD community is aware of and appreciates the urgency for genetic testing, (ii) the critical barriers to adopting genetic testing are different than what we believe, and (iii) genetic testing, including ID YOUR IRD, may not provide clarity, accuracy, resources or community support to those living with an IRD. For a discussion of other risks and uncertainties, and other important factors, any of which could cause our actual results to differ from those contained in the forward-looking statements, see the "Risk Factors" section, as well as discussions of potential risks, uncertainties and other important factors, in our Annual Report on Form 10-K, as amended, our Quarterly Reports on Form 10-Q and other filings we make with the U.S. Securities and Exchange Commission. All information in this press release is as of the date of the release, and Spark undertakes no duty to update this information unless required by law.
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Source: Spark Therapeutics, Inc.