2016 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 to create a hopeful future for families coping with Batten disease.

Fight NPC

Funded by the Brian and Caris Chan Family Foundation and the Liferay Foundation, Fight NPC is an initiative dedicated to empowering families in their struggle against Niemann-Pick Type C. We know it’s easy to despair in the face of such an aggressive, deadly disease, but recent medical breakthroughs have given NPC-affected families across the world hope for a better life for their children. Living with NPC is difficult, but we now believe that living with NPC is possible. Don’t give up – join us as we fight NPC.

Global Genes

Global Genes™ is one of the leading rare disease patient advocacy organizations in the world with a mission to eliminate the challenges of rare disease. Global Genes promotes the needs of the rare disease community under a unifying symbol of hope – the Blue Denim Genes Ribbon™.

Jonah’s Just Begun

Jonah’s Just Begun will be representing our international consortia H.A.N.D.S. (Helping Advance Neurodegenerative Disease Science).  H.A.N.D.S. raises funds and awareness for the LSD, Sanfilippo Syndrome type C and D or MPSIII C&D.

LAL Solace

The SOLACE organization (Support Organization for LAL Deficiency – Advocacy, Care and Expertise) was created to bring LAL Deficiency patients and families together to share experiences, knowledge and compassion. SOLACE stands for Support Organization for LAL Deficiency – Advocacy, Care & Expertise. The SOLACE organization was created by parents whose children were diagnosed with Wolman Disease who realized there was a need for a caring support community.

National Fabry Disease Foundation

The National Fabry Disease Foundation, a nonprofit charitable organization, provides education and support to individuals with Fabry disease and their families, and works with many other stakeholders to give people with Fabry disease an opportunity for better and longer lives.

National Organization of Rare Disorders

The National Organization for Rare Disorders (NORD) is a not-for-profit organization dedicated to improving the lives of individuals impacted by rare disease through programs of advocacy, education, research and patient/family services.

2016 Exhibitors

Alexion Pharmaceuticals, Inc.

Alexion is a global biopharmaceutical company focused on developing and delivering life-transforming therapies for patients with devastating and rare disorders, including Kanuma™ (sebelipase alfa) for patients with lysosomal acid lipase deficiency (LAL-D).

American College of Medical Genetics and Genomics

The Newborn Screening Translational Research Network (NBSTRN) is a contract funded by NICHD, which provides investigators resources to improve health outcomes of newborns with genetic or congenital disorders. We will be highlighting these resources at the NBSTRN Booth # 501.

Amicus Therapeutics

Amicus Therapeutics is a 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.

BioMarin Pharmaceutical Inc.

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. Visit www.BMRN.com to learn more.

Carbosynth LLC

Carbosynth is a life science company specialising in the production of novel carbohydrate based materials and in particular fluorogenic/ chromagenic substrates used in enzyme assays.  Our labs, based in the UK also offer a custom synthesis service.

Emory Genetics Laboratory

Emory Genetics Laboratory is dedicated to providing superior, cutting-edge genetic testing for use in patient care. We strive to make the diagnostic process clear and efficient for our clients and patients.  Have a question? Please call (855) 831-7447 to speak with our experienced Client Services team or browse our website for details on our services. You can also visit us online at www.geneticslab.emory.edu.

Fairview Specialty Pharmacy

Fairview Specialty Pharmacy provides comprehensive and individualized drug therapy for patients with rare diseases. Our services include care coordination of home infusion and specialty pharmacy, clinical trial management, and an Advanced Therapies Program.

The Greenwood Genetic Center

The Greenwood Genetic Center is a nonprofit institute organized to provide clinical genetics services, diagnostic laboratory testing, educational programs and resources and research in the field of medical genetics.

Living in the Light

A patient advocacy initiative utilizing the potency of photography and compelling narratives to educate about the realities of life faced by rare diseases.

Lysosomal & Rare Disorders Research Center

LDRTC 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.

Orsini Healthcare

Orsini Healthcare is a boutique, national specialty pharmacy focused on providing care to patients with rare and complex medical conditions.

Pfizer Inc.

Pfizer has a leading portfolio of products and medicines that support wellness and prevention, as well as treatment and cures for diseases across a broad range of therapeutic areas; and Pfizer has an industry-leading pipeline of promising new products that have the potential to confront some of the most challenging diseases of our time.

Protalix Biotherapeutics

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 PRX 102, a novel enzyme replacement therapy in development for Fabry disease entering phase III studies and other investigational products  in clinical development for cystic fibrosis and inflammatory bowel disease.

Raptor Pharmaceutical Corp.

Raptor Pharmaceutical Corp. is an emerging global biopharmaceutical company focused on developing and commercializing life-altering therapeutics that treat rare, debilitating and often fatal diseases.

Rare Disease Report

Rare Disease Report is a website and weekly e-newsletter that offers an independent voice for the Rare Disease Community. It strives to bring together medical, scientific, investment, regulatory, and advocate professionals interested in rare diseases and orphan drugs. Rare Disease Report is proud to be the media partner for WORLDSymposium 2016.

Retrophin

Retrophin is a biopharmaceutical company focused on the discovery and development of drugs for the treatment of catastrophic diseases that are debilitating and often life-threatening, and for which there are currently limited patient options.

Sangamo BioSciences, Inc.

Sangamo BioSciences, the leader in therapeutic genome editing, is focused on developing one-time treatments for monogenic diseases, including lysosomal storage disorders, by deploying its proprietary In Vivo Protein Replacement Platform™ (IVPRP™).

Sanofi Genzyme

Sanofi Genzyme focuses on developing specialty treatments for debilitating diseases that are often difficult to diagnose and treat, providing hope to patients and their families.

Shire International

Shire enables people with life-altering conditions to lead better lives. Our strategy is to focus on developing and marketing innovative specialty medicines to meet significant unmet patient needs. We provide treatments in Neuroscience, Rare Diseases, Gastrointestinal, and Internal Medicine and we are developing treatments for symptomatic conditions treated by specialist physicians in other targeted therapeutic areas, such as Ophthalmology.

Shire

Shire enables people with life-altering conditions to lead better lives. Our strategy is to focus on developing and marketing innovative specialty medicines to meet significant unmet patient needs. We provide treatments in Neuroscience, Rare Diseases, Gastrointestinal, and Internal Medicine and we are developing treatments for symptomatic conditions treated by specialist physicians in other targeted therapeutic areas, such as Ophthalmology.

Ultragenyx Pharmaceutical Inc.

Ultragenyx is a clinical-stage biotechnology company committed to bringing to market novel products for the treatment of rare and ultra-rare diseases. Recombinant Human Beta-Glucuronidase (rhGUS) is in development as an investigational enzyme replacement therapy for Mucopolysaccharidosis VII (MPS VII, Sly Syndrome).