Blueprint Genetics
Blueprint Genetics is a company for clinicians, by clinicians. With a patient-first mindset, we deliver high-quality genetic testing to the global clinical community. Our comprehensive testing utilizes high-resolution NGS-based CNV detection that covers ~2,000 clinically relevant noncoding variants. At Blueprint Genetics, we have an interpretation team that goes the extra mile to provide thorough variant interpretation and comprehensive clinical report for you and your patient. Visit www.blueprintgenetics.com to learn more.
We offer educational resources, such as webinars, for the healthcare community. Be sure to check out our webinars on a variety of different topics related to genetics: https://blueprintgenetics.com/resource-type/webinars/Horizon Therapeutics
At Horizon, we believe science and compassion must work together to transform lives.
Horizon is focused on researching, developing and commercializing medicines that address critical needs for people impacted by rare and rheumatic diseases. Our pipeline is purposeful: we apply scientific expertise and courage to bring clinically meaningful therapies to patients. We believe science and compassion must work together to transform lives. For more information on how we go to incredible lengths to impact lives, please visit www.horizontherapeutics.com, follow us @HorizonNews on Twitter, like us on Facebook or explore career opportunities on LinkedIn.Invitae Corporation
Your Health Starts in Your Genes
Invitae’s mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae’s goal is to make High Quality genetic testing Affordable and Accessible for everyone. Medical genetic testing experts trust | InvitaeNational Coordinating Center for Regional Genetics Networks
A fundamental goal of the NCC and RGNs is to bring genetic services closer to local communities.
The mission of the National Coordinating Center for the Regional Genetics Networks (NCC) is to improve access to quality genetic services for underserved populations. NCC is supported by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS). Regional Genetics Networks – National Coordinating Center for the Regional Genetics Network (nccrcg.org)National Genetics Education and Family Support Center (The Family Center)
Learning about and participating in the genetics delivery system can be overwhelming – but it doesn’t have to be. Our information and resources are broken down to meet you where you are. Whether you’re interested in learning more about hereditary patterns, your genetic condition, or leadership opportunities, we have it here for you." Home | National Genetics Education and Family Support Center (nationalfamilycenter.org)
National Organization for Rare Disorders (NORD)
The National Organization for Rare Disorders (NORD) NORD is the leading nonprofit organization representing all patients and families affected by rare diseases in the United States. NORD began as a group of advocates that formed to mobilize support to pass the Orphan Drug Act of 1983, and since its creation, NORD has grown every year to be the leader in voicing the needs of the rare disease community, driving supportive policies, furthering education, advancing medical research, and providing services for those who need them most. Visit rarediseases.org for more information and ways to get involved.
Penn State Health Milton S. Hershey Medical Ctr.
World-class care close to home
Penn State Health’s flagship 628-bed medical center, Penn State Health Milton S. Hershey Medical Center is central Pennsylvania’s only locally based academic medical center. A Magnet-designated hospital since 2007, it provides high-level, patient-focused medical care. The Milton S. Hershey Medical Center is the only medical facility in Pennsylvania to be accredited as a Level 1 trauma center for both children and adults. Hershey Medical Center shares its Hershey campus with Penn State Health Children’s Hospital, Penn State Cancer Institute and Penn State College of Medicine. Penn State Health Milton S. Hershey Medical Center | Penn State HealthPTC Therapeutics
Extending life’s moments for patients with rare diseases and their loved ones
PTC is a science-driven, global biopharmaceutical company focused on the discovery, development and commercialization of clinically differentiated medicines that provide benefits to patients with rare disorders. PTC’s ability to globally commercialize products is the foundation that drives investment in a robust and diversified pipeline of transformative medicines and our mission to provide access to best-in-class treatments for patients who have an unmet medical need. The Company’s strategy is to leverage its strong scientific expertise and global commercial infrastructure to maximize value for its patients and other stakeholders. PTC Therapeutics – Home (ptcbio.com)Sema4
Advancing Healthcare Through Information-Driven Insights
Sema4 is a patient-centered health intelligence company dedicated to advancing healthcare by using artificial intelligence and machine learning to enable personalized medicine. By leveraging leading data scientists and technology, the company’s platform powers remarkable and unique insights to transform the practice of medicine including how disease is diagnosed, treated, and prevented. Sema4 has established one of the largest, most comprehensive, and fastest growing integrated genomic & clinical data platforms, building predictive models of human health to deliver personalized insights for patients, as well as more generalized genomic health screening and modeling across the spectrum of disease. Sema4: A Patient-Centered Health Intelligence CompanyThe Jackson Laboratory
Here at JAX, our team of nearly 3,000 people are working toward one goal — to discover precise genomic solutions for disease and empower the global biomedical community in our shared quest to improve human health. The Jackson Laboratory (JAX) (www.jax.org) is a world leader in mammalian genetics and human genomics research. Founded in 1929 in Bar Harbor, Maine, JAX is an independent, non-profit research institution with locations in Maine, Connecticut, California, Japan and China. The Clinical Education Program strives to empower healthcare professionals to integrate genomics into their clinical practice, working with clinicians, hospitals, health systems, and training programs to develop education programs. The Jackson Laboratory’s Clinical Education Program (www.jax.org/ccep)