2020 Patient Advocate Showcase

Batten Disease Support and Research Association

BDSRA is dedicated to funding research for treatments and cures, providing family support services, advancing education, raising awareness, and advocating for legislative action. BDSRA is now the largest support and research organization dedicated to Batten disease in North America.

Cure GMI 1 Foundation

Cure GM1 Foundation exists to fund research for the benefit of all those who suffer from GM1 gangliosidosis, a lysosomal storage disease that attacks the brain and spinal cord, and is always fatal in children. Cure GM1 is the only 501(c)(3) nonprofit entirely dedicated to GM1 gangliosidosis research and drug development.

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.

Fabry International Network

The primary aim of The Fabry International Network (FIN) is to facilitate collaboration between Patient Organisations to support those affected by Fabry Disease. It seeks to do this primarily through enabling communication, promoting good practices and acting as an independent forum for Fabry Associations. FIN is connected to over 45 countries around the world. Membership is free and open to any National Patient Organisation in which Fabry patients are represented. In difficult to reach geographical areas, FIN relies on individual supporters, such as Mr Martynas Davidonis from Lithuania to help FIN reach Eastern European Patient Organisations or Mr Wanderlei Cento Fanta, the founder and president of Abraff in Brazil, helping FIN with South America’ s Associations. FINs Vision is of a world where every single person affected by Fabry disease has the best quality of life possible through early diagnosis, treatment and cure.

Global Genes

Global Genes® is a leading rare disease patient advocacy organization. Our mission is to create a globally connected community equipped to eliminate the challenges of rare disease. We achieve this through connecting, empowering and inspiring the rare disease community.

MLD Foundation

We C.A.R.E.™ – Compassion, Awareness, Research & Education for metachromatic leukodystrophy (MLD). Global footprint. Support for families, especially newly diagnosed. Very active in Rare Disease policy & awareness, and newborn screening at federal, state & global levels. Actively working on an identified MLD newborn screen pilot.

MSD Action Foundation

Our goal is to promote and support research that will lead to positive clinical outcomes and quality of life for patients suffering from Multiple Sulfatase Deficiency.

National Fabry Disease Foundation

The National Fabry Disease Foundation is a nonprofit charitable organization with many valuable programs to provide disease education and to provide support and assistance to families with Fabry disease. They strive to improve disease understanding, diagnoses, and management and to enable individuals with Fabry to live better and longer lives.

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.

Salla Treatment and Research Foundation

Promoting research, education, and family support as we pursue treatments for Salla Disease.

United MSD Foundation

The United MSD Foundation advocates for, supports, and funds biomedical research to cure Multiple Sulfatase Deficiency (MSD) and avails its research to cure other lysosomal storage diseases.

2020 Exhibitors

Amicus Therapeutics, Inc.

Amicus Therapeutics is a global, patient-dedicated biotechnology company focused on discovering, developing and delivering novel high-quality medicines for people living with rare metabolic diseases. With extraordinary patient focus, Amicus Therapeutics is committed to advancing and expanding a robust pipeline of cutting-edge, first- or best-in-class medicines for rare metabolic diseases.

Audentes Therapeutics

Audentes Therapeutics is a leading AAV-based genetic medicines company focused on developing and commercializing innovative products for serious rare neuromuscular diseases. We are leveraging our AAV gene therapy technology platform and proprietary manufacturing expertise to develop programs across three modalities: gene replacement, vectorized exon skipping, and vectorized RNA knockdown. Our product candidates are showing promising therapeutic profiles in clinical and preclinical studies across a range of neuromuscular diseases. Audentes is a focused, experienced and passionate team driven by the goal of improving the lives of patients.

Backpack Health

Backpack Health’s free mobile and web-based multilingual platform allows individuals to securely store, manage, and share their health information. Backpack Health partners with foundations and drug/device developers to engage patients and securely collect de-identified data. The company is GDPR-compliant to assure health data security for its users.


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 Pharmaceutical

BioMarin develops and commercializes innovative biopharmaceuticals for serious diseases and medical conditions. Approved products include the first and only therapies for PKU, LEMS, MPS I, MPS VI, MPS IVA, and CLN2 disease. Clinical development programs include investigational therapies for Hemophilia A, Achondroplasia, MPS IIIB, Friedreich’s Ataxia and other rare diseases.

Blueprint Genetics & ARCHIMEDlife

Blueprint Genetics is a genetic testing company based in Helsinki, Seattle, and Dubai, with a customer base spanning over 70 countries. We provide world-class genetic diagnostics and clinical interpretation for rare inherited diseases in 14 medical specialties.


CENTOGENE is a rare disease company focused on transforming clinical, genetic, and biochemical data into medical solutions for patients. We are focused on bringing rationality to treatment decisions and accelerating the development of new orphan drugs by using our knowledge of the global rare disease market, including its epidemiological and clinical heterogeneity, and our innovative biomarkers. Our data repository includes epidemiologic, phenotypic, and genetic information from over 450,000 patients sourced from over 115 countries thus reflecting the genetic differences in global ethnicities. We believe this represents the only platform that comprehensively analyzes multilevel data to improve the understanding of rare diseases, which can aid in the identification of patients and improve our pharmaceutical partners’ ability to bring orphan drugs to the market. As one of the largest rare disease companies worldwide, CENTOGENE is dedicated to transforming the science of genetic information into solutions and hope for patients with rare diseases and their families.

Charles River

Discovery from Charles River is the CRO of choice with a proven track record of successful drug development in neurodegenerative rare diseases. Offering scientific excellence and integrated services that take clients from hit ID to IND, our client-focused collaborative team works with clients to find and follow the optimum path to market.

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 more than 5300 people.

Denali Therapeutics

Neurodegenerative diseases are one of the largest medical challenges of our time. Denali Therapeutics is dedicated to defeating neurodegenerative diseases through rigorous therapeutic discovery and development.


Enzyvant is a biopharmaceutical company focused on developing innovative treatments for patients with rare diseases. Enzyvant has initiated a rolling BLA submission with the FDA for RVT-802, an investigational tissue-based therapy for the treatment of primary immunodeficiency associated with complete DiGeorge Anomaly. Enzyvant is simultaneously initiating a clinical trial of RVT-801, an investigational enzyme replacement therapy for the treatment of Farber disease. Enzyvant plans to develop treatments for additional rare diseases with high unmet need.

European Gaucher Disease Network

We are establishing a multi-disciplinary team of advisors, including physicians, patients and industry, to help us assess the quality of the current treatment and care services provided by hematologists to GD patients around the globe. We are providing a trusted Online GD Resource for hematologists, patients, their families and carers.

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.

Homology Medicines, Inc.

Homology Medicines is based on an important scientific discovery – a novel set of adeno-associated virus vectors derived from human hematopoietic stem cells (AAVHSCs) that are designed to precisely and efficiently deliver genetic medicines in vivo either through gene therapy or by harnessing the body’s natural DNA repair process of homologous recombination through nuclease-free gene editing.

Our technology platform offers substantial benefits over current gene editing and gene therapy approaches and could potentially enable the development of one-time curative treatments.

Idorsia Pharmaceutical

The purpose of Idorsia is to discover, develop and bring more, innovative medicines to patients.


Invitae’s mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Our goal is to aggregate most of the world’s genetic tests into a single service with higher quality, faster turnaround time and lower prices.

JCR Pharmaceuticals Co., Ltd.

JCR Pharmaceuticals has been engaged in the R&D of pharmaceuticals for rare diseases ever since its inception. Its philosophy; “Contributing towards people’s healthcare through pharmaceutical products” drives us to leverage our biotechnology expertise, cell therapy and gene therapy technologies and regenerative medicine to develop treatment options for under-served patient communities.

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.

Neurogene Inc.

Neurogene is accelerating development of new genetic medicines to people with devastating neurological diseases and their families.

Orchard Therapeutics

Orchard Therapeutics transforms the lives of patients with rare diseases through innovative gene therapies.


Orphazyme is biopharmaceutical company focused on the development of treatments for serious, progressive neurological or neuromuscular diseases. Arimoclomol, a heat shock protein amplifier that restores protein homeostasis, is in development for Neiman-Pick disease type C (NPC), Gaucher disease, Amyotrophic Lateral Sclerosis (ALS), and sporadic Inclusion Body Myositis (sIBM).

Patient Discovery

Founded by a seasoned team of technology, healthcare and design leaders, Patient Discovery is changing the way patients with complex conditions are understood, supported and treated.

Pfizer, Inc.

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 Ltd.

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 inflammatory bowel disease and cystic fibrosis.

QPS Austria GmbH

QPS Austria is a leading CRO for CNS drug discovery and development. The preclinical department routinely performs studies using in vitro and in vivo models for lysosomal storage and neurodegenerative diseases. Models are evaluated by behavioral, histological and biochemical readouts. The clinical department performs clinical studies of different phases.

Sanofi Genzyme

Sanofi Genzyme, the specialty care global business unit of Sanofi, focuses on rare diseases, rare blood disorders, 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.

Sigilon Therapeutics

Sigilon Therapeutics is developing functional cures for chronic diseases through its Shielded Living Therapeutics™ platform. The platform includes human cells engineered to produce the crucial proteins needed by patients living with diseases such as LSDs. The cells are protected by Sigilon’s Afibromer™ biomaterials matrix, which shields them from immune rejection.

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.


Shire is now part of Takeda. Takeda is a global, values-based, R&D-driven biopharmaceutical leader headquartered in Japan, committed to bringing Better Health and a Brighter Future to patients by translating science into highly-innovative medicines. We focus R&D efforts on four therapeutic areas: Oncology, Gastroenterology, Neuroscience and Rare Diseases. We also make targeted R&D investments in Plasma-Derived Therapies and Vaccines.


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.