Life and Science

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)

If our ability to test for and detect rare diseases can be significantly
improved, a predictable future challenge will be that patients are
diagnosed but there is no available means or expertise to provide
optimal treatment and ongoing support. In this webinar, we will discuss
strategies for solving this issue, including how data collected by
international consortia in diverse settings might inform possible
solutions, and how these solutions might be implemented.

With:

Domenica Taruscio, M.D. (National Centre for Rare Diseases, Rome, Italy)

Tim Guilliams, Ph.D. (Healx, Cambridge, UK)

David A Pearce, Ph.D. (Sanford Health, Sioux Falls, SD)

Marta Mosca, M.D., Ph.D. (University of Pisa, Pisa, Italy)

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

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

It has been well established that mental health goes hand in hand with
physical health. Living with a chronic condition places a daily
emotional strain on both patients and caregivers. For those with a rare
disease, the situation is exacerbated by unique challenges, including
longer time to diagnosis; more frequent misdiagnoses; few, if any,
available treatments; and often complex care. This greater mental load,
accompanied by the physical challenges that come with a rare disease,
has profound psychological implications. In addition, there are
intractable well-being issues around genetic testing that need to be
addressed, in concert with the real possibility of genetic therapies in
the near future. How can these realities be compassionately and
sensitively discussed, and how might they impact the way patients think
about their medical condition? In this webinar, we examine these issues
and address how physicians and the medical community can better support
those living with a rare disease as well as their caregivers.

With:

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

Debra Regier, M.D., Ph.D. (Children’s National Hospital, Washington, DC)

Amy Hunter, Ph.D. (Genetic Alliance UK, London, UK)

Kym Winter (Rareminds, St. Albans, UK)

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

This podcast is the audio recording of a webinar launched by Science magazine, made in collaboration with Fondation Ipsen.

To improve treatment of rare diseases, it is critical that rare disease
detection approaches be improved, particularly in primary care settings
and in public health testing places such as health centers. These
environments constitute the front line for disease detection and play an
outsized role in protecting the public, particularly children.
Normally, emphasis is placed on testing for common diseases, which are
allocated most of the resources. But it could be argued that when
considered as a group, rare diseases are in fact common, and that
putting more resources toward their detection in primary health care
systems is a valid approach for improving diagnosis. In this webinar,
our experts will discuss strategies for implementing broad rare disease
detection across all doctor–patient interactions.

With:

Durhane Wong-Rieger, Ph.D. (Canadian Organization for Rare Disorders (CORD), Ontario, Canada)
Helen Malherbe, Ph.D. (Rare Diseases South Africa, Johannesburg, South Africa)
Eyby Leon Janampa, M.D. (Children’s National Hospital, Washington, DC)
Dong Dong Ph.D. (The Chinese University of Hong Kong, Hong Kong SAR, China)
Sean Sanders, Ph.D. (Moderator, Science/AAAS, Washington, DC)

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

This episode will attempt to explain the foundational concepts of AI and
explore how it is being applied to help identify, diagnose, test for,
and manage complex disorders, including rare diseases, in global
populations. Detection of rare disease is uniquely amenable to analysis
using AI, in part because the symptoms and laboratory tests can provide a
disease-specific “signature” that software can be trained to recognize.
But essential to these efforts is the collection and storage of
accurate and reliable data in accessible databases. Experts will discuss
how such data can be gathered and analyzed, including the application
of technologies such as AI to comb through thousands of medical records
to detect both known and new rare diseases, and to understand how to
best manage these conditions.

With:

Ben Solomon, M.D. (NHGRI, NIH, Bethesda, MD)
Sylvia Thun, M.D. (Charité Mental Health, Berlin, Germany)
Julián Isla (Foundation 29, Madrid, Spain)
Sandra Brasil, Ph.D. (Portuguese Association for Congenital Disorders of Glycosylation, Caparica, Portugal)
Sean Sanders, Ph.D. (Moderator, Science/AAAS, Washington, DC)

While in concept it is straightforward to develop a neonatal testing panel for rare (and common) diseases, the greater challenges are in the dissemination of this panel and the training of medical personnel concerning what to do with the information. Neonatal testing represents a weapon for early detection of rare disease, but implementation is key. Additionally, how the results are shared with patients and what actions are taken based on those results are critical. Join this discussion to learn from experts about the pros and cons of neonatal (and prenatal) testing for rare diseases and what challenges face both the medical community treating these disorders and the patients living with them.

With:
Monica Wojcik, M.D. (Boston Children's Hospital & Harvard Medical School ; Boston, MA)
Roberto Giugliani, M.D., Ph.D. (Federal University of Rio Grande do Sul ; Porto Alegre, Brazil)
Melissa P. Wasserstein, M.D. (The Children's Hospital at Montefiore ; Bronx, NY)
James R. Bonham, Ph.D. (International Society for Neonatal Screening ; Maarssen, The Netherlands)
Sean Sanders, Ph.D. (moderator ; Science/AAAS ; Washington, DC)

This podcast is the audio recording of a webinar launched by Science magazine, with the support of Fondation Ipsen.

By their nature, rare diseases are difficult to detect because of their low overall occurrence in most populations. Improving identification and  detection of these disorders, particularly early in the life of the  patient, can have profound effects on the course of the disease and the  quality of life of the patient and their family. This webinar will  examine methods for detecting patients with rare diseases, particularly  those with underlying genetic causes, explained in plain language. Our  expert panel will describe the benefits and limitations of genetic  testing, recent advances, and new technologies, including how  developments in artificial intelligence might help uncover hidden rare  diseases. Only a decade ago it cost a billion dollars to conduct a full  genomic analysis; now this can be done for about $1,000. But how useful  and actionable are the results? The variety of genetic tests available  provide an array of information that can be confusing to the general  population and medical practitioners alike. Tune in to learn how and why  genetic testing is done, how to interpret the results, and what impact  these results can have on families and patients managing a rare disease.

With:

Marshall Summar, M.D. (Children’s National Hospital, Washington, DC)

Cynthia Tifft, M.D., Ph.D. (National Institutes of Health, Bethesda, MD)

Jimeng Sun, Ph.D.(University of Illinois, Urbana-Champaign, Champaign, IL)

Helena Kääriäinen, M.D., Ph.D. (Finnish Institute for Health and Welfare, Helsinki, Finland)

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

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

After a decade of study and educational costs approaching half a million U.S. dollars, a young scientist endures a life of endless hours, high stress, and low pay. Furthermore, the life of a junior scientist is one of frequent relocation, often abroad. Advancement up the scientific career ladder is fraught with high stress: the need to publish, raise grant funding, and achieve tenure. Despite low pay, the long work hours make obtaining a secondary income difficult or impossible. How can a young scientist save money, organize a retirement account, and financially plan for a comfortable life and retirement? The financial pressures of being a scientist are not limited to youngsters—with tenure becoming more difficult and likely to disappear, many more senior scientists have little or no financial security either. Is poverty the right price to pay for a career in science? Listen to this webinar to get fiscally fit.

With:

Diane Klotz, Ph.D. (Sanford Burnham Prebys Medical Discovery Institute, San Diego, CA)

Emily Roberts, Ph.D. (Personal Finance for PhDs, Seattle, WA)

Phil Schuman, M.B.A. (Indiana University, Bloomington, IN)

Annamaria Lusardi, Ph.D. (George Washington University and the Global Financial Literacy Excellence Center, Washington, DC)

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

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

Patients with rare diseases must often wait many years for a diagnosis—a  quarter of patients wait over 4 years to be diagnosed, while 50% of  patients must live with no accurate diagnosis. Why is this, and can it  be improved? In this installment of our Rare Diseases Series, we will  discuss the broad challenges faced by the rare disease community across  the world. A significant part of the problem is the lack of awareness  among the medical and scientific community, but there are also obstacles  put up by medical insurance companies and a broad failure in the public  domain to appreciate the hurdles faced by patients with rare diseases.  Being without a diagnosis can impact a patient’s physical, mental, and  emotional well-being, while receiving an accurate diagnosis can allow  the patient and their family to move forward with a focus on managing  future challenges.

With: 

William A. Gahl, M.D., Ph.D. (National Institutes of Health, Bethesda, MD)

Jean-Louis Mandel, Ph.D. (The French Foundation for Rare Diseases, Paris, France)

Anne O’Donnell-Luria, M.D., Ph.D. (Broad Institute and Boston Children’s Hospital, Boston, MA)

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

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

When a person commits a crime and is incarcerated, they are displaced to an environment that in theory should be designed to effect long-lasting behavioral change whereby criminality does not recur. But is this the reality? When a human being is forcibly detained, what are the impacts on their behavioral and mental health, their physiology and neurochemistry? What can we learn from the science of incarceration that better informs us about crime prevention and recidivism reduction? What can studies on incarceration teach us about how people respond to their environments, good or bad? In this webinar, the expert panel will tackle these difficult issues that compel us to examine how society’s need for redress can be balanced with our moral obligation to treat all human beings with respect and dignity.

With:

Nazgol Ghandnoosh, Ph.D. (The Sentencing Project; Washington, D.C.)

Catherine Heard (Institute for Crime & Justice Policy Research; London, U.K)

Jeffrey D. Morenoff, Ph.D. (University of Michigan; Ann Arbor, MI)

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

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

Education, like many facets of today's society, is likely to fundamentally change in the lifetime of Generation Z (4–24 years old). The calcification of expensive universities providing an inflexible learning experience seems unavoidable unless they can transition toward a more flexible, effective, and cost-efficient educational environment. Additionally, the education system needs to better prepare students for a full range of career options, including those outside of the traditional academic track. This webinar draws together educational visionaries to conjecture the future of higher education and its impact on science learning and literacy. Is graduate education outdated and outmoded in the current context? Should tenure vanish? You cannot afford to miss this debate lest you get left behind.


With:
Sherilynn J. Black, Ph.D. (Duke University, Durham, NC)
William F. Tate IV, Ph.D. (Washington University in St. Louis, St. Louis, MO)
Maria Lund Dahlberg (National Academies of Sciences, Engineering, and Medicine, Washington, DC)
Sean Sanders, Ph.D. (Moderator ; Science/AAAS, Washington, DC)


This podcast is adapted from a webinar made by Science Magazine in partnership with Fondation Ipsen.