RARE DISEASE PARTNERSHIPS
WORKING TOGETHER WITH A SHARED MISSION
RARE-X is a collaborative platform for global data sharing and analysis to accelerate treatments for rare disease.
BPAN Warriors and the BPAN community is partnering with RARE-X [a 501(c)(3) nonprofit] to build a Data Collection Program for BPAN families. When you participate in the BPAN Data Collection Program, you’ll help accelerate research and the development of new drugs, devices, and other therapies.
The BPAN Community is building the BPAN Data Collection Program to …
Inform researchers how BPAN changes over time
Enable better data to use in clinical trials
Give patients the opportunity to participate in clinical trials
Reduce the time it takes to study new medicines
Speed up the time to get treatments to patients
Enable the use of data as a placebo (instead of actual patients) in a clinical trial
The BPAN Data Collection Program will be patient-owned but enabled by RARE-X technology. All data governance, consent support, and data security will be put in place by RARE-X. BPAN families will benefit from a streamlined process for collecting research-ready data in a phased approach.
THE RARE DISEASE DIVERSITY COALITION
The Black Women's Health Imperative launched the Rare Disease Diversity Coalition to address the extraordinary challenges faced by rare disease patients of color. The Coalition brings together rare disease experts, health, and diversity advocates, and industry leaders to identify and advocate for evidenced-based solutions to alleviate the disproportionate burden of rare diseases on communities of color.
Black Women’s Health Imperative launched the Rare Disease Diversity Coalition to address the extraordinary challenges faced by rare disease patients of color. The Coalition brings together rare disease experts, health and diversity advocates, and industry leaders to identify and advocate for evidence-based solutions to alleviate the disproportionate burden of rare diseases on communities of color.
An estimated 30 million Americans have a rare disease. By some approximations, it can take an average of five years and consultations with over seven clinicians to reach an accurate diagnosis for a rare disease. Additionally, only 10% of rare diseases have a treatment approved by the Food and Drug Administration.
For minorities with a rare disease, these challenges are compounded. Minorities are underrepresented in genome-wide association studies and clinical research trials, leading to a lack of understanding about effective treatments. Additionally, broader racial disparities in access to affordable care and social determinants of health create significant added barriers.
The Rare Disease Diversity Coalition is focused on reducing racial disparities in the rare disease community. The Coalition’s work is led by BWHI and a leadership steering committee comprised of advocacy, community, and industry leaders with the following goals:
● Reduce racial disparities in the rare disease community
● Identify and advocate for evidence-based solutions to alleviate the disproportionate burden of rare diseases on communities of color
● Help achieve greater equality within the rare disease community
Rise For Rare Campaign Amplified Through Social Media
ORPHAN DISEASE CENTER: JUMP START PROGRAM
ODC’s JumpStart: We work with patient groups, foundations, pharma, biotech, and the academic community to support research for rare diseases.
The Orphan Disease Center's JumpStart program serves to establish and progress research agendas in emerging and neglected rare diseases. The JumpStart program works closely with patient groups and foundations, pharma and biotech, and the academic community to drive therapeutic development for rare diseases.
The JumpStart program connects patients and foundations to researchers and key opinion leaders, encouraging scientific collaboration. We can provide guidance on developing research tools, such as cell lines and animal models, and we can provide essential guidance on clinical development programs including registry and natural history development. We also offer assistance organizing symposia and Think Tanks, bringing together KOLs, experts and potential sponsors, and we can assist rare disease organizations assemble a research grant program, by providing information on best practices.
The JumpStart program offers a tailor approach to disease groups with limited expertise and resources. We can help you overcome obstacles to progress research and bridge gaps for future success.
We can bring together stakeholders from biopharma and academy to discuss clinical aspects of a disease, standard of care, preclinical research and novel treatments.
Grant Consulting Program:
We can help foundations in all aspects of the research grant process. Because every institution’s size and needs are different, we can evaluate your program and develop a process that fits your capabilities.
GLOBAL GENES: FOUNDATION ALLIANCE PARTNER
Global Genes provides hope for the more than 400 million people affected by rare disease around the globe. We fulfill our mission by helping patients find and build communities, gain access to information and resources, connect to researchers, clinicians, industry, government, and other stakeholders, share data and experiences, stand up, stand out, and become effective advocates on their own behalf.
Foundation Alliance Member Partner
Global Genes RARE Foundation Alliance exists to create a structure where members exchange best
practices and share lessons learned to drive better outcomes for the entire rare disease community.
Global Genes aims to create a culture of collaboration to support the activities of the RARE Foundation
Alliance through providing support to patient groups and foundations more effectively via improved
two-way communication and resource sharing.
The RARE Foundation Alliance platform is set up in such a way so that Global Genes can better serve
rare disease foundations. In doing so, organizations come together to share best practices so that each
individual organization can thrive.
To promote this sense of collaboration RARE Foundation Alliance members agree to:
Utilize RARE Foundation Alliance membership to enhance each individual organization
Share useful information and services with individual networks
Be a supportive partner to RARE Foundation Alliance partners
Hold leaders accountable for being a positive and responsive conduit between individual organizational leaders and Global Genes
KEY AREAS OF FOCUS
Provide effective resources and tools for patients, families and foundations
Advance patient-centered support
Support and facilitate patient engagement from pre-diagnosis onward
Foster partnerships and collaborations that fill critical gaps in rare disease
RARE Foundation Alliance Leadership Council
The Foundation Alliance Leadership Council works directly with Global Genes to strategically advise on matters of the Foundation Alliance. This group of rare disease advocacy leaders has been identified as some of the community’s most trusted advisors. The leadership council identifies and recommends Alliance goals and priorities and takes an active role in implementing those goals and objectives.
RARE EPILEPSY NETWORK (REN)
RARE EPILEPSIES COLLABORATING: Patient-Focused: Improving patient outcomes defined by patients and/or caregivers
The mission of Rare Epilepsy Network (REN) is to work with urgency to collaboratively improve outcomes of rare epilepsy patients and families by fostering patient-focused research and advocacy.
The vision of REN is to support, grow and maintain a network of rare epilepsy groups formed around a living overarching structure tasked with defining REN projects, in which REN groups are able to choose to participate.
Rare Epilepsy Network (REN) was born in 2013 with ten rare epilepsy organizations fueled by a Patient-Centered Outcomes Research Institute (PCORI) grant, managed by the Epilepsy Foundation (EF), and singularly focused on a project to build a patient-centered registry.
By 2019, REN had grown to 32 organizations, launched a first-of-its-kind rare epilepsy registry, including 41 diseases, and on-boarded 1,500 patients. When the PCORI grant came to a close in Spring 2019, REN members determined there was value in continuing the network, expanding from a single focused project to multiple projects, and improving transparency about REN’s mission, composition, and terms of engagement. As a result, a small transition work group convened to envision the future of REN.
In early 2020, REN began anew and is growing with speed. REN is a volunteer network that welcomes all rare epilepsy organizations to come together around research efforts where our collective efforts will improve the lives lived of our individual constituents. REN includes rare epilepsy organizations and broad epilepsy stakeholders committed to this common mission. Meet our Members and Partners here.
The Rare Epilepsy Network is comprised of MEMBERS and PARTNERS. It is overseen by a Coordinating Committee comprised of volunteers from the Member Network. It is administered by a Director.
REN MEMBERS directly represent a rare epilepsy constituency and are committed to research and the REN mission and goals. They include Patient Advocacy Groups (PAGs) defined broadly irrespective of legal status (501c3) and may also include support and Facebook groups. REN MEMBERS also include other epilepsy or broader non-profit organizations who share a commitment to research on the rare epilepsies and the REN mission/goals. Groups that are not US-based are welcome to participate, since diseases and research have no boundaries, although some REN activities may focus on the United States funding and policies.
REN PARTNERS include individuals with specific expertise to advise and consult and serve as non-voting members. They also include government, academia, coalitions, researchers, professional associations, and industry. These partners will be engaged on a project-by-project basis and serve as non-voting members.
We are dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policy that advances the equitable development of and access to lifesaving diagnoses, treatments and cures.
The EveryLife Foundation for Rare Diseases is a 501(c)(3) nonprofit, nonpartisan organization dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policy that advances the equitable development of and access to lifesaving diagnoses, treatments and cures.
“While we are now witnessing a ‘Golden Age’ of rare disease advocacy and scientific advancement, 93 percent of the 7,000 known rare diseases still have no FDA-approved therapy. Thirty million Americans suffer from a rare disease. That’s a public health crisis. We need patient advocates now more than ever to continue to make their voices heard. They have been, and always will be, the key to innovation.” – Julia Jenkins, EveryLife Foundation Executive Director
“EveryLife is the organization that changed not just something, but changed everything. When advocates come to an EveryLife event, they see that they can make a difference. They may not have the same disorder, but they all have the same drive and, together, they really can move mountains.” – Mark Dant, EveryLife Foundation Board Chair
The national economic burden of 379 rare diseases reached nearly $1 trillion in the U.S. in 2019.
In the United States, a disease is defined as rare when it affects fewer than 200,000 people.
More than thirty million Americans (one in 10) live with one or more rare diseases.
93% – 95% of the more than 7,000 known rare diseases have no U.S. Food and Drug Administration-approved therapies.
Rare disease patients wait an average of 6.3 years after symptoms present before receiving a confirmed diagnosis, having received several incorrect diagnoses during that time.
The U.S. Food and Drug Administration process for approval of a rare disease drug (referred to as “orphan”) can take an average of 15 years.
Fifty percent of rare disease patients are children.
Thirty percent of children with a rare disease will not live to see their fifth birthdays.