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Rare Drug Development Symposium
Rare Drug Development Symposium: Innovative Ideas from Next Generation Change-Makers.
CASK-Related Disorders Virtual Think Tank
The Orphan Disease Center hosted a virtual Think Tank for CASK-related disorders on December 4th, 2023. During this research-focused meeting, we met with clinicians and scientists to discuss these group of genetic disorders that affect brain development. CASK-related disorders are caused by mutations in the CASK gene and are inherited in an X-linked manner. During this scientific Think Tank, we aimed to increase knowledge on these disorders by bringing together experts and key opinion leaders and create a road map for research in this area. Based on this knowledge, we will develop a grant program that will assure funding for investigators of CASK-associated diseases, in collaboration with the Project CASK Foundation.
The Orphan Disease Center's JumpStart program serves to establish and progress research agendas in emerging and neglected rare diseases, such as CASK-related disorders. By bringing together experts, we encourage collaboration amongst these researchers to ultimately advance science in these otherwise neglected diseases.
CACNA1A Research Readiness Think Tank
The Orphan Disease Center hosted a virtual Research Readiness Think Tank for CACNA1A-related disorders on July 24th, 2023. During this research-focused meeting, we met with clinicians and scientists to summarize the results from the Research Readiness survey from the RARE-X Data Platform, and focus on the key research questions surrounding the episodic nature of two main CACNA1A-related disorders using a combination of clinical and molecular data. The output from this meeting helped identify funding priorities and gaps in the disease knowledge in the CACNA1A field, and also acted as a precursor to the CACNA1A Research Roundtable in October 2023.
The Orphan Disease Center's JumpStart program serves to establish and progress research agendas in emerging and neglected rare diseases, such as CACNA1A-related disorders. By bringing together experts and key opinion leaders, we aimed to increase knowledge in these disorders and encourage collaboration amongst these researchers to ultimately advance science in these rare diseases.
RARE Drug Development Symposium
Join us May 1-3, 2023 in Philadelphia, Pennsylvania for the RARE Drug Development Symposium!
2023 Rare Disease Day
February 28th is International Rare Disease Day!
Help us spread awareness during International Rare Disease Day! Watch and share our video to help educate young people about what it means to have a rare disease, and the critical role that doctors, scientists, caregivers, genetic counselors, and others play in supporting the rare community.
For a population with so few dedicated resources and access to life-saving interventions, we are hopeful that reaching a young audience will plant the seed for future involvement. Further, we hope to help destigmatize what it means to live with a rare disease, especially for young children who lack the appropriate knowledge on the many conditions (7,000+!) that exist. Learning about rare diseases also provides an opportunity to teach kids about diversity and inclusion, for those who may look or function differently than they do.
One in ten Americans is living with a rare disease, which means our classmates, colleagues, and friends may be affected, often without us even knowing. We hope you will join us in recognizing this important day for the rare disease community, and help us equip our students with the knowledge and resources to get involved.
Are you an educator or school administrator? Please consider incorporating this video into your curriculum for the week!
Learn More
For more information about Rare Disease Day, visit www.rarediseaseday.org
Pathway to Gene Therapy Approval in Latin America
The Orphan Disease Center and Jim Wilson MD, PhD in São Paulo, Brazil, discussing the Pathway to Gene Therapy Approval in Latin America.
The Orphan Disease Center hosted the second “Pathway to Gene Therapy in Latin America” meeting in Sao Paolo, Brazil on November 17-18th 2022.
During this event, representatives from Brazil, Colombia and Argentina, as well as the ODC and the Gene Therapy Program at the University of Pennsylvania, came together to discuss the challenges of developing therapies for rare diseases in Latin America and the necessary global development programs in this challenging commercial landscape.
Over the 2 days, we heard from a panel of speaker representing Fiocruz, Casa dos Raros, EMS Pharmaceuticals, ANVISA, the Federal University of Rio Grande do Sul, Interfarma, the Asociacion Colombiana de Medicos Genetista, and the patient federations of Colombia and Brazil. Speakers and participants had the opportunity to discuss the state of clinical development of therapeutics in Latin America, as well as issues regarding the registration process, pricing, and reimbursement in these countries.
The overarching intent of the meeting addressed the collaboration between Latin American nations, and the potential pathway to approval from regulatory agencies in the different countries. We also discussed the need from key players worldwide to offer support for these goals.
The ODC will continue to work with all the attendees to pursue initiatives for regional collaboration and global access of life-saving therapeutics for rare diseases.
Million Dollar Bike Ride 2022
The ODC is proud to partner with 30+ disease teams made up of patients, caregivers, foundations and family members who tirelessly raise much-needed funds for research grants.
RARE Drug Development Symposium
The RARE Drug Development Symposium, in partnership with Global Genes, is designed to connect, educate, and inspire rare disease participants, whether they’re beginning or advanced.
Bloom Syndrome Think Tank
Bloom Syndrome Think Tank
The Orphan Disease Center hosted a Bloom Syndrome Think Tank on November 9, 2021. During this research-focused meeting, we met with clinicians and scientists from the US, Australia, Denmark, and the UK, to discuss the state of the research in Bloom Syndrome and to learn more about the most current advances in this disease. We identified several gaps in the research and are now preparing a request for applications from scientists worldwide to begin the research grant program.
Bloom syndrome is a rare disease that affects many body systems and increases the risk of developing cancer at an early age. This disorder is part of a group of rare genetic diseases with defects in DNA damage response and repair. Greater knowledge of its mechanisms will be beneficial not only for patients of Bloom syndrome, but also could be translated to the clinic for cancer therapy. The rarity of this disorder has challenged progress in the understanding of the disease and the development of treatments and cures for patients.
The Orphan Disease Center's JumpStart program serves to establish and progress research agendas in emerging and neglected rare diseases, such as Bloom syndrome. By bringing together experts and key opinion leaders, we aimed to increase knowledge in Bloom Syndrome and encourage collaboration amongst these researchers to ultimately advance science in this otherwise overlooked disease. We will develop a grant program in the near future, that will assure funding for investigators of Bloom syndrome and other associated diseases.
Million Dollar Bike Ride 2021
The ODC is proud to partner with 30+ disease teams made up of patients, caregivers, foundations and family members who tirelessly raise much-needed funds for research grants.
RARE Drug Development Symposium
The RARE Drug Development Symposium is a two-day interactive event in partnership with Global Genes that focuses on educating both beginners and advanced participants on the drug development process.
September Webinar Series
LET’S GET REAL: Harnessing Non-Proprietary
Patient Registries and RWE to Accelerate
Rare Disease Drug Development
RARE Drug Development Symposium
Global Genes, in partnership with the Orphan Disease Center at the University of Pennsylvania School of Medicine, hosts the annual RARE Drug Development Symposium designed to connect, educate and inspire rare advocates. The Symposium focuses on the drug development process and the role of rare disease advocates. This event takes place in conjunction with the University of Pennsylvania’s Million Dollar Bike Ride (MDBR), a cycling event that raises funds for rare disease research.
RARE Drug Development Symposium Recordings Now Available
If you were unable to attend the RARE Drug Development Symposium or want to rewatch any sessions you missed out on, recordings of the event are now available on our Resource Hub!
Experience inspirational stories, strategic drug therapy advancement tactics and educational insights with each session. You can also check out highlights from this year’s live event here.
Rare Disease Day
Rare changes everything.
Too often a rare disease diagnosis means canceled plans, delayed celebrations, and daily interruptions.
What if we could change that?
PRA is partnering with the UPenn Orphan Disease Center to host World Rare Disease Day at our Blue Bell office. This event will bring together various stakeholders in rare disease research to discuss how we can reframe clinical trial research so that patients with rare diseases have better access to meaningful care.
Join researchers, drug developers, advocates, and patients for interactive, roundtable discussions regarding the future of rare disease research and gain new insights from the individuals driving this positive change. We hope to see you there!
South Brazil MPS Symposium 2019
Patients/families came from 11 different Brazilian states (Rio Grande do Sul, Santa Catarina, Paraná, São Paulo, Minas Gerais, Sergipe, Pernambuco, rio grande do Norte Maranhão, Pará and Roraima), with the partnership of several MPS associations, as Casa Hunter, Instituto AtlasBioSocial and many other advocacy groups.
The event was organized by Instituto Genetica para Todos (Instituto Genética para Todos - IGPT) and Casa dos Raros (House of the Rares, a joint venture involving IGPT and Casa Hunter), and had the technical/scientific support of the Medical Genetics Service of Hospital de Clinicas de Porto Alegre.
