2018 Patient Advocate Showcase
Cure Sanfilippo Foundation
Cure Sanfilippo Foundation is a 501c3 nonprofit whose mission is to advocate for and fund research directed towards a cure or treatment options for children with Sanfilippo Syndrome, a rapidly degenerative and terminal disease, currently with no cure or treatment.
EveryLife Foundation for Rare Diseases
The EveryLife Foundation for Rare Diseases is dedicated to accelerating biotech innovation for rare disease treatments through science-driven public policy. We can do more with the science we already have and bring life-saving treatments to millions of people suffering from rare diseases.
Global Genes® is a leading rare disease patient advocacy organization. Our mission is to eliminate the challenges of rare disease. We build awareness, educate the global community, and provide critical connections and resources that equip advocates to become activists for their disease.
Jonah’s Just Begun
Jonah’s Just Begun – Foundation to Cure Sanfilippo Inc. is a 501(c)3. JJB raises funds and then distributes them to academic researchers focused on Sanfilippo Type C. We have two goals: first, to drive the science that will ultimately lead to a cure for Sanfilippo Type C; and second, to raise awareness for all rare diseases. We also empower and encourage others affected by rare diseases to advocate for cures.
We C.A.R.E.™ – Compassion, Awareness, Research & Education for metachromatic leukodystrophy (MLD). Global footprint. Very active in Rare Disease policy & awareness, and newborn screening at federal, state & global levels.
National MPS Society
The National MPS Society exists to find cures for MPS and ML. We provide hope and support for affected individuals and their families through research, advocacy and awareness of these devastating diseases.
National Organization of Rare Disorders (NORD)
The National Organization for Rare Disorders (NORD) is the leading nonprofit dedicated to improving the lives of patients and families with rare diseases through programs of advocacy, education, research and financial assistance services.
Project Alive is a 501(c)(3) nonprofit with a mission to cure Hunter Syndrome / MPS II by supporting effective and efficient research and engaging in advocacy. Project Alive funds research and assists with the design of research and clinical programs to treat Hunter Syndrome.
Alexion Pharmaceuticals, Inc.
Alexion is a global biopharmaceutical company focused on serving patients and families affected by rare diseases, including lysosomal acid lipase deficiency (LAL-D), through the innovation, development and commercialization of life-changing therapies.
Amicus Therapeutics, Inc.
Amicus Therapeutics is a global biotechnology company at the forefront of therapies for rare and orphan diseases. The Company has a robust pipeline of advanced therapies for a broad range of human genetic diseases.
Audentes Therapeutics is a biotechnology company focused on developing and commercializing gene therapy products for patients living with serious, life-threatening rare diseases. We have four product candidates in development including AT982 for the treatment of Pompe disease. We are committed to forging strong, global relationships with the patient, research and medical communities.
Baebies, guided by the vision that “everyone deserves a healthy start,” delivers innovative products and services for newborn screening and pediatric testing. SEEKER® is the only newborn screening platform authorized by the FDA and CE Marked for lysosomal storage diseases. FINDERTM is a rapid near-patient newborn testing solution that is still under development and not available at this time for sale or use in any territory. By bringing new technologies and new tests to the healthcare community, Baebies is providing hope to parents and the chance at a better life for millions of children.
BioMarin develops and commercializes innovative biopharmaceuticals for serious diseases and medical conditions. Approved products include the first and only medications for PKU and LEMS, and the first and only enzyme replacement therapies for MPS I, MPS VI and Morquio A syndrome.
Manufacturer of Enzyme Substrates for Laboratory use for Lysosomal Storage Diseases.
Chiesi Farmaceutici S.p.A.
Based in Parma, Italy, Chiesi Farmaceutici is an international research-focused Healthcare Group, with over 80 years of experience in the pharmaceutical industry. Chiesi researches, develops and markets innovative drugs in the respiratory therapeutics, specialist medicine and rare disease areas. Chiesi employs nearly 5,000 people.
Fairview Specialty Pharmacy
Fairview Specialty Pharmacy provides comprehensive and individualized drug therapy management for people with rare diseases. Services include care coordination of home infusion and specialty pharmacy, industry partnerships in drug development trials, limited drug distribution programs and outcomes studies.
GlycoAnalytics, UC San Diego
Leveraging the strength of academic and pharmaceutical research and development, the UC San Diego GlycoAnalytics Core offers advance glycan analytical services worldwide. Our specialties include high throughput analysis of glycosaminoglycans including Non Reducing End (NRE)-analysis, glycosphingolipids (GSL) analysis and N/O-linked glycan analysis relevant for various lysosomal storage disorders.
Greenwood Genetic Center
The Greenwood Genetic Center is a nonprofit institute organized to provide clinical genetic services, diagnostic laboratory testing, educational programs and resources and research in the field of medical genetics. Our laboratory offers biochemical, cytogenetic, and molecular testing.
Invitae’s mission is to bring genetic information into mainstream medical practice to improve healthcare for everyone. We offer clinically validated, affordable genetic testing for oncology, cardiology, neurology, pediatric, metabolic and more.
Lysosomal & Rare Disorders Research & Treatment Center (LDRTC)
LDTRC is a non-profit organization focused on the individual patients with Lysosomal and other rare disorders. LDRTC offers clinical care by the highest standards with a special expertise in translational medicine, and conducts investigator initiated studies, bench-to-bedside studies, self sponsored multi-center collaborative trials, pilot and proof-of-concept studies.
Mayo Medical Laboratories
Mayo Medical Laboratories is a global reference laboratory operating within Mayo Clinic’s Department of Laboratory Medicine and Pathology. Our comprehensive test menu includes biochemical and molecular assays for screening, diagnosing, and monitoring lysosomal storage disorders in both children and adults.
At Pfizer, we apply science and our global resources to bring therapies to people that extend and significantly improve their lives. Every day, Pfizer colleagues work across developed and emerging markets to advance wellness, prevention, treatments and cures that challenge the most feared diseases of our time.
Protalix is dedicated to discovering, developing, and marketing recombinant therapeutic proteins with potentially improved clinical profiles, produced with our ProCellEx® plant cell-based protein expression platform. Our first approved product was taliglicerase alfa for Gaucher disease. Our pipeline includes pegunigalsidase alfa, a novel enzyme replacement therapy in phase III studies for the treatment of Fabry disease and other investigational products in clinical development for cystic fibrosis and inflammatory bowel disease.
QPS Austria GmbH
Founded in 1995, QPS is a GLP/GCP-compliant contract research organization (CRO) supporting discovery, preclinical and clinical drug development. We provide quality services to pharmaceutical and biotechnology clients worldwide. Our linearly integrated core competencies include: Neuropharmacology, DMPK, Toxicology, Bioanalysis, Translational Medicine, Early Stage Clinical Research, Phase II-IV Clinical Research, Program Management.
Rare Disease Report
Rare Disease Report® has become the premier source for reliable, up-to-date news and insights for the rare disease community. Our goal is to collaborate and educate clinicians, patients, caregivers, advocacy and industry so rare diseases can be managed more effectively.
Sangamo Therapeutics, Inc. is focused on translating ground-breaking science into genomic therapies that transform patients’ lives using the company’s industry leading platform technologies in genome editing, gene therapy, gene regulation and cell therapy.
Sanofi Genzyme, the specialty care global business unit of Sanofi, focuses on rare diseases, multiple sclerosis, oncology, and immunology. We help people with debilitating and complex conditions that are often difficult to diagnose and treat. Our approach is shaped by our experience developing highly specialized treatments and forging close relationships with physician and patient communities. We are dedicated to discovering and advancing new therapies, providing hope to patients and their families around the world. Learn more at our website.
Shire is the leading global biotechnology company focused on serving people with rare diseases and other highly specialized conditions. We strive to develop best-in-class products across our core therapeutic areas including Hematology, Immunology, Neuroscience, Ophthalmics, Lysosomal Storage Disorders, Gastrointestinal/Internal Medicine/Endocrine, Hereditary Angioedema, and Oncology.
Ultragenyx is a biopharmaceutical company committed to bringing to market novel products for the treatment of rare and ultra-rare diseases, with a focus on serious, debilitating genetic diseases. The Company has rapidly built and advanced a diverse portfolio of product candidates with the potential to address diseases for which the unmet medical need is high, the biology for treatment is clear, and for which there are no approved therapies.