医疗专业人士
At Spark Therapeutics, we are leveraging our unique technical and R&D expertise as we strive to bring gene therapies to patients. We are committed to working with the healthcare community as we expand our partnership to continue advancing state-of-the-art gene therapy research, education and support.
访问the Spark Therapeutics website for U.S. healthcare professionals to access medical, scientific, and educational resources.
获得IRDS的遗传测试
Inherited retinal diseases (IRDs, also known as inherited retinal dystrophies) are a group of rare blinding conditions caused by one of 250+ different genes. It is estimated that more than two million people live with inherited retinal diseases (IRDs) globally, but only a small percentage of them have been genetically screened because of limited access to and information about genetic testing. In response to feedback from advocates, families affected by IRDs and healthcare professionals about the current barriers preventing access to genetic screening for IRDs in a consistent manner, Spark Therapeutics has been working closely with physicians to help facilitate access to genetic screening for people with IRDs.
Learn more about genetic testing with these resources:
眼睛想要2知道, Spark’s newest resource, aims to equip patients living with an IRD with the knowledge and resources they need to get started with genetic testing. Learn more about the benefits of genetic testing, locate a provider and connect with others in the community.
In order to ensure Eye Want 2 Know is a comprehensive resource for genetic testing for IRDs, Spark Therapeutics also recently unveiled an enhancedID您的IRD®.gene testing initiative that tests for variants in approximately 300 genes known to cause IRDs and includes optional genetic counseling, both available at no charge*. Learn more about our expanded genetic testing panel and terms and conditions of the program.
*这一倡议美国resi开放dents only, subject to the条款和条件of the program.
访问基金会战斗失明用于额外的遗传测试资源。
参考：
Berger W, Kloeckener-Gruissem B, Neidhardt J. The molecular basis of human retinal and vitreoretinal diseases. Progress in Retinal and Eye Research. 2010;29(5):335-375.
Sahel J-A，Marazova K，Audo I.遗传性视网膜退化的临床特征和当前疗法。冷泉港在医学的透视图。2014; 5（2）。
Veleri S, Lazar CH, Chang B, Sieving PA, Banin E, Swaroop A. Biology and therapy of inherited retinal degenerative disease: insights from mouse models. Dis Model Mech Disease Models & Mechanisms. 2015;8(2):109-129.
RetNet: Summaries of Genes and Loci Causing Retinal Diseases. RetNet. https://sph.uth.edu/retnet/sum-dis.htm. Updated January 21, 2021. Accessed March 8, 2021.
Maintaining an active dialogue with the scientific community
Spark Therapeutics seeks to actively engage with physicians, researchers and other healthcare professionals to better understand and provide education about diseases related to our therapeutic areas of interest.
The urgent needs of patients and the challenges before us demand uncompromising focus, tenacity and determination to create a fully integrated company built on world-class science, high-quality manufacturing and thoughtful, sustainable access. We embrace our ethical obligation to develop innovative, investigational treatments for life-altering and life-threatening genetic diseases as rapidly as possible without compromising product quality or patient safety.
To learn more, please click on one of the topics below.
Medical Questions
对于美国的HCP，去www.SparkMedical.com. For HCPs outside the US,点击这里to complete our medical information request form or contact us by calling 1-855-SPARKTX (1-855-772-7589).
我们对血友病临床研究的持续承诺
raybetapp下载Spark Therapeutics对血友病A和一个观察研究具有临床研究和血友病A和观察研究，该研究正在收集血友病A的人的实时数据。
雷竞技官方
3737市场街道
Philadelphia, PA 19104
电话：1-855-SparkTX / +1 215-220-9300
N-SPK-US-700009-5
