Doing better where it counts: Bringing rare disease care to underserved populations

Public–private partnerships also play a key role in closing the
funding gap. They can facilitate knowledge-sharing, resource-pooling,
and joint efforts toward finding effective treatments and cures.
Advocating for international cooperation is another key strategy.
Establishing global networks and collaborations that include venture
capitalists and banks can facilitate the sharing of research findings,
best practices, and funding opportunities. International funding bodies
and foundations can also prioritize rare disease research and encourage
collaboration across borders.

In this panel discussion, participants will:

• Learn how closing the funding gap in rare diseases requires a multi-faceted approach
• Hear strategies for increasing government funding, collaboration among stakeholders, and international cooperation
• Get information on how rare disease research can benefit not only
  those with rare diseases and their communities, but the wider world as
  well.

More info in our website : https://www.fondation-ipsen.org/webinar/webinar-advocacy-in-rare-disease-closing-the-funding-gap/

This podcast was adapted from a webinar co-organized by AAAS Science Magazine and Fondation Ipsen.

Advocacy in rare disease is complex and challenging, but there are
effective methods that advocates can use to communicate with the public.
In this panel discussion, experts in communication, public relations,
and influencing will discuss strategies and tactics to advance advocacy
for rare disease.

With:

Mary Dunkle (National Organization for Rare Disorders, Quincy, MA)
Sparsh Shah (Musician, motivational speaker, philanthropist, and patient advocate, Iselin, NJ)
Anne Rancourt (National Institutes of Health, Bethesda, MD)
Erika Gebel Berg, Ph.D., moderator (Science/AAAS, Washington, DC)

This podcast was adapted from a mebinar co-organized by AAAS/Science and Fondation Ipsen

In this podcast, first episode in the 2023 Science/AAAS Fondation Ipsen series on advocacy in rare disease, our guests examine the advocacy landscape, asking: what does advocacy entail,
who are advocates, what organizations are involved with rare disease
advocacy, what determines how umbrella organizations allocate resources,
and what is effective—examining success stories of when advocacy has
worked.

With: 

Durhane Wong-Rieger, Ph.D. (Canadian Organization for Rare Disorders (CORD), Ontario, Canada)
Michael Manganiello (Pyxis Partners, Washington, DC)
Marc C. Patterson, M.D. (Mayo Clinic, Rochester, MN)
Flaminia Macchia, M.A. (Roche, Brussels, Belgium)

And Erika Gebel Berg, Ph.D., our moderator

"The profoundly personal side of rare disease: Humanizing the therapeutic journey of patients" : a free podcast recorded during a webinar organized by Science Magazine and Fondation Ipsen.

Health care systems are not equipped to provide the psychological and social support patients need. Genetic counseling is complex in the setting of undiagnosed patients. Layered on this is the complexity of supporting the mental or physical disabilities that many patients with a rare disease must manage, whether they have a diagnosis or not. The humanistic support of patients with rare diseases and their families needs to improve. In this webinar, you’ll meet experts who struggle with these issues and can help guide us on how to do better.

Our guests:

Kathleen Bogart, Ph.D. (Oregon State University, Corvallis, Oregon)

Amrit Ray, M.D., M.B.A. (Physician researcher/Rare disease advocate, New Haven, CT)

Alanna Yee (Encephalitis411, Edmonton, Canada)

During this podcast (recorded during a webinar co-organized by Fondation Ipsen and Science Magazine), our guests (all experts in rare disease) discussed about
the need of patient registries.

There is no international database on rare disease genotypes, no
standardized nomenclature for phenotypes, and not even an agreed-upon
consent process to acquire, store, and maintain such data. This deficit
disadvantages patients and thwarts the development of new therapies.

A universal approach is needed to gather, store, and share phenotypic
and genotypic data for rare diseases. We require an accepted,
trustworthy system that protects patient identities while sharing
critical data needed to advance diagnosis and treatment. This free
webinar will interrogate global experts on how to drive this unmet and
urgent need forward.

We are on the brink of new solutions that include accessing specialized
care through telemedicine, diagnosis through mail-in specimens, and
computer-aided remote phenotyping. This webinar discusses how new
systems and technologies can close the chasm that prohibits those with
rare diseases living in underserved countries and communities from
getting critically needed care.

https://www.fondation-ipsen.org/webinar/webinar-bringing-rare-disease-care-to-underserved-populations/

with:

Consuelo Wilkins, M.D., MSCI (Vanderbilt University Medical Center, Nashville, TN)

Linda Goler Blount, M.P.H. (Black Women’s HealthImperative, Atlanta, GA)

Nakela L. Cook, M.D., M.P.H. (Patient-Centered Outcomes Research Institute (PCORI), Washington, DC)

Jamie Sullivan, M.P.H. (EveryLife Foundation, Washington, DC)

Sean Sanders, Ph.D. (Science/AAAS, Washington, DC; moderator)

This podcast is adapted from a webinar broadcast by Science magazine, with the sponsorship of Fondation Ipsen.

New drug design methodologies allow us to contemplate designer medicines for
very small groups of patients or even individuals. The future holds
promise for the rare disease community because modern biotech can build
bespoke (customized) therapies. Are we at the dawn of personalized
treatments being widely available for individual patients? This poses a
broader question: Just as every person is unique, could all medicines
become so too?

This podcast is the audio recording of a webinar launched by AAAS / Science Magazine and Fondation Ipsen.

With:

Genine Winslow, M.Sc. (Chameleon Biosciences, San Anselmo, CA)
Tiina Urv, Ph.D. (National Institutes of Health, Bethesda, MD)
Viviana Giannuzzi, Pharm.D., Ph.D. (Fondazione Gianni Benzi Onlus, Bari, Italy)
Sean Sanders, Ph.D. (Science/AAAS, Washington, DC)

This podcast is adapted from a webinar launched by Science Magazine, with the support of Fondation Ipsen.

Innovation hubs could provide a viable option to leverage common goals and opportunities, providing shared protocols for handling phenotypic, clinical, and genetic data, while also prioritizing and amplifying the voices of patients living with a rare disease. They could bring together the best international policy structures to streamline efficient and effective medical and scientific advances in rare disease detection, diagnosis, and treatment. This webinar brings together key opinion leaders to discuss the current and future needs of patients, and how innovators, doctors, scientists, drugmakers, and policymakers can work efficiently together to deliver solutions to the millions of diagnosed and undiagnosed patients in need.

With:
Marshall Summar, M.D. (Children’s National Hospital, Washington, DC)
Zizi Imatorbhebhe, M.B.A., M.S., P.M.P (ERGOMED PLC, Raleigh, NC)
Anna Lehman, M.D. (University of British Columbia and Vancouver General Hospital, Vancouver, Canada)
Vinodh Narayanan, M.D. (TGen, Phoenix, Arizona)
Sean Sanders, Ph.D. (Moderator, Science/AAAS, Washington, DC)

Rare disease detection is an interdisciplinary and international
problem. Building a solution must include internationally agreed-upon
diagnostic criteria for each rare disease, patient access to diagnostic
technologies, and effective communication strategies between health care
workers and patients. In addition, relevant medical databases (e.g.,
patient DNA data) need to be international, multilingual, and readily
accessible, crossing all socioeconomic boundaries. Academia, business,
biopharma, artificial intelligence experts, international governmental
agencies, and health care organizations will need to be at the table.
Most importantly, patient voices need to be heard and honored, giving
advocacy groups a central role.

during this podcast, our diverse panel of thought leaders will
tackle these issues and suggest a path forward for reforming and
rethinking how rare disease detection and diagnosis is done.

with:

William A. Gahl, M.D., Ph.D. (National Institutes of Health, Bethesda, MD)
Cristina Casanova Might, B.S., M.B.A. (Undiagnosed Diseases Network Foundation, Birmingham, Alabama)
Avril Daly (EURORDIS, Paris, France)
Charlene Son Rigby, B.A., M.B.A. (RARE-X, Aliso Viejo, CA)
Moderator: Sean Sanders, Ph.D. (Science/AAAS, Washington, DC)

Pick any two humans on Earth and analysis will show that their DNA is around 99.9% identical. But that tiny 0.1% difference, in combination with our environment, is what makes us unique. We each have a singular experience of the world—the interactions we have, the food we eat, the diseases we suffer. In this final webinar in our 2021 series on rare diseases, we will take a critical look at the importance of understanding our rarity and uniqueness as a way to understand the human condition, our needs, and health. We will explore the importance of being “rare” and move past our innate desire for homogeneity and the comfort of conformity, to embrace heterogeneity and difference. Valuing differences is a pathway to growth and progress as individuals and societies. Having explored the unique challenges of people with rare diseases, might we argue that all disease is unique for the person who endures it?

With:

Ioannis Thomas Pavlidis, Ph.D. (University of Houston, Houston, Texas)
Inês Pires Santos Ramos Pinheiro, Ph.D. (Institut Curie, Paris, France)
Judith S. Kaur, M.D. (Mayo Clinic, Jacksonville, Florida)
Terrence Forrester, M.D., Ph.D. (The University of the West Indies, Kingston, Jamaica)