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 findi...

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, moti...

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 wo...

"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 supp...

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 di...

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-ip...

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 un...

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...

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, multili...

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 imp...

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 infor...

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 great...

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 dis...

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 beca...

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 pa...

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...

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...

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 prob...

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...

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 prepa...

Around 7,000 rare diseases have been identified, impacting an  estimated 300 million people around the world, about 4% of the global  population. Approximately 50% of those diagnosed with a rare disease are  children, and 3 in 10 of them will die before the age of 5. Numbers  differ across countries, but it is estimated that in Europe, less than  10% of patients with a rare disease receive treatme...

Barely a decade ago it was almost inconceivable that a scientist could simultaneously conduct science and also own a business based upon that science. These days, entrepreneurship is a major source of scientific advancement as well as a mechanism for gaining personal wealth. Whether you view it as a good or bad thing, entrepreneurship is here to stay as a tool for driving scientific progress. How...

This podcast was adapted from a webinar recorded by Science Magazine, with the contribution of Fondation Ipsen. Science is meant to serve and advance humanity. For more than 200 years, however, it has been conducted only by scientists, making it the domain of the highly (some might say over-) educated. An exclusive club, science is most often cloistered in the ivory towers of academia. While some...

There is a tacit assumption when it comes to the value of science: that  it serves to improve the human enterprise. As humans, we believe that  our fellow beings are predominantly motivated to do good. However,  science has been used to design weapons of mass destruction and  effective methods of torture. Furthermore, numerous investigators have  dedicated their lives to the study of evil and what...

This podcast was extracted from a webinar that Fondation Ipsen organised with Science Magazine with the aim to gather international scientist to discuss a key issues for society. Diverse perspectives make science stronger. Science relies upon the intellectual capacity, curiosity, and creativity of human beings to explore our natural environment, seek answers to difficult questions, and improve peo...