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.Hosted by Ausha. See ausha.co/privacy-policy for more information.
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 IpsenHosted by Ausha. See ausha.co/privacy-policy for more information.
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 moderatorHosted by Ausha. See ausha.co/privacy-policy for more information.
"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) Hosted by Ausha. See ausha.co/privacy-policy for more information.
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.Hosted by Ausha. See ausha.co/privacy-policy for more information.
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. Hosted by Ausha. See ausha.co/privacy-policy for more information.
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)Hosted by Ausha. See ausha.co/privacy-policy for more information.
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)Hosted by Ausha. See ausha.co/privacy-policy for more information.
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)Hosted by Ausha. See ausha.co/privacy-policy for more information.
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)Hosted by Ausha. See ausha.co/privacy-policy for more information.
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.Hosted by Ausha. See ausha.co/privacy-policy for more information.
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.Hosted by Ausha. See ausha.co/privacy-policy for more information.
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)Hosted by Ausha. See ausha.co/privacy-policy for more information.
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)Hosted by Ausha. See ausha.co/privacy-policy for more information.
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.Hosted by Ausha. See ausha.co/privacy-policy for more information.
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.Hosted by Ausha. See ausha.co/privacy-policy for more information.
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. Hosted by Ausha. See ausha.co/privacy-policy for more information.
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.Hosted by Ausha. See ausha.co/privacy-policy for more information.
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.Hosted by Ausha. See ausha.co/privacy-policy for more information.
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.Hosted by Ausha. See ausha.co/privacy-policy for more information.