Life and Science

Life and Science

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Life and Science episodes

  • What’s the plan? From detection to diagnosis to treatment of rare diseases

    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 on Ausha. See ausha.co/privacy-policy for more information.

    59 min
  • The psychological cost of rare disease

    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 on Ausha. See ausha.co/privacy-policy for more information.

    1 hr 2 min
  • Finding rare diseases in common places

    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 on Ausha. See ausha.co/privacy-policy for more information.

    1 hr
  • Intelligent detection and diagnosis of rare diseases

    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 on Ausha. See ausha.co/privacy-policy for more information.

    1 hr 2 min
  • Neonatal testing for rare diseases: The power of knowing

    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 on Ausha. See ausha.co/privacy-policy for more information.

    1 hr 2 min
  • Detecting rare disease- Revealing the methods, motivations, and implications

    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 on Ausha. See ausha.co/privacy-policy for more information.

    59 min
  • Fiscal fitness for scientists- The price you pay for ignorance

    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 on Ausha. See ausha.co/privacy-policy for more information.

    1 hr 1 min
  • The poor diagnosis of rare diseases

    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 on Ausha. See ausha.co/privacy-policy for more information.

    1 hr 1 min
  • The science of incarceration- A realistic look at the cost of imprisonment

    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 on Ausha. See ausha.co/privacy-policy for more information.

    1 hr 1 min
  • From grassroots to 30,000 feet- A discussion on the fate of graduate education

    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 on Ausha. See ausha.co/privacy-policy for more information.

    1 hr

About Life and Science

From the publisher's feed

Fondation Ipsen and AAAS/Science magazine are partners for the "Life & Science" series of webinars. For the first time, all of the episodes are available as podcasts.