Rarecast

The Lion’s Mouth Opens, Lucy Walker’s critically acclaimed short documentary, begins at a dinner between the actress and filmmaker Marianna Palka and her friends the night before she gets results from a genetic test that will tell her whether she carries the gene for Huntington’s disease. Palka’s father has had a long battle with the neurodegenerative disorder and she has a 50 percent chance of having the gene that causes it. As the film readies to debut on HBO June 1 at 8 p.m., we spoke to Palka about her decision to document her experience, why she chose to be tested, and whether it is better to know or not know. Because of the nature of the film, we have agreed not to discuss her test results in consideration of listeners who may not yet have seen the film.

Royal Pains, the television program about a concierge doctor in the Hamptons, begins its seventh season on the USA Network June 2. As the new season begins, the shows is expected to take an increased focus on rare diseases as the mysterious billionaire Boris Kuester von Jurgens-Ratenicz has decided to fund a rare disease research center. We spoke to Royal Pains Executive Producer Michael Rauch, Executive Producer Carol Flint, and series star Mark Feuerstein, about the show, the role rare diseases have played on it, and how rare disease themes may play out in the episodes ahead.

Nick Sireau’s efforts to find a cure for his children’s rare genetic disease alkaptonuria caused him to confront struggles faced by many people within the rare disease community as they seek to raise funds, foster research, and learn about running clinical trials and supporting patients. The experience led him to create Findacure, an organization that seeks to train, mentor, and empower patient groups. We spoke to Sireau, chairman of Findacure, about the organization, where it is focusing its efforts, and why he prefers the term “fundamental” diseases to “rare diseases.”

MPS I is a rare genetic disease that is incurable and lethal by age 12. Seattle-base Immusoft thinks it can harness a key part of the immune system to manufacture a missing enzyme needed to treat the disease. It represents a broader effort on the part of the company to develop a platform to treat a wide range of disease by turning immune system cells into drug factories. We spoke to Matthew Scholz, CEO of Immusoft, about the company’s work, the process for programming these cells, and how the inspiration for its approach came from the computer industry.

The legendary Notre Dame football coach Ara Parseghian lost three of his grandchildren to Niemann-Pick Type C, a rare and fatal genetic disease. Parseghian’s story has helped mobilize members of the Notre Dame community, and in particular, Greg Crawford, Dean of the College of Science and professor of physics, in a fight against the disease. Crawford has been named a finalist in the Biotechnology Industry Organization’s Everyday Superheros contest in recognition for his work in raising funding and awareness to combat Niemann-Pick Type C. We spoke to Crawford about his involvement with the disease, his series of cross country bike rides for the cause, and what advice he’d offer other patient advocates looking to raise money and awareness.

Last month Utah Governor Gary Herbert signed into law the Right to Try Act, which provides terminally ill patients access to experimental drugs that have completed at least early-stage clinical testing. Utah is the tenth state to pass such law and a growing list of other states are considering similar legislation. We spoke to Jonathan Johnson, founder of Utah’s Right to Try Foundation, about the law, how it works, and the difference he expects it will make for patients who have exhausted available therapeutic options.

When a doctor delivered a devastating diagnosis to Pat Furlong for her two sons with Duchenne Muscular Dystrophy, she refused to sit by and just watch them slowly die. She marched off to Washington to corner her Senator and the director of the National Institutes of Health, borrowed money to fund her sudden role as a patient advocate, and brought together academic researchers to get them thinking on how they could tackle the disease. We spoke to Furlong, founding president and CEO of Parent Project Muscular Dystrophy, about her experiences, what patient advocates can do to raise awareness for their causes, and how they should think about best leveraging their investments.

Lysosomal storage disorders are a group of genetic rare diseases that can manifest themselves in a diverse set of symptoms and can be difficult to diagnose. Now Courtagen Life Sciences has brought to market LysoSEEK, a next-generation genetic tests for sequencing 94 genes associated with nearly 60 metabolic disorders. The new test provides an alternative to the piecemeal testing that can provide a long, slow, and costly path to an answer. We spoke to Richard Boles, medical director of Courtagen, about this group of diseases, the importance a faster diagnosis can play in minimizing irreversible damage, and how the new test changes the diagnostic landscape for these patients.

David Pearce created the Coordination of Rare Diseases at Sanford or CoRDS registry as a national resource that could help accelerate research into rare diseases. We spoke to Pearce, president of Sanford Research, director of Sanford Children’s Health Research Center, and the Global Genes 2012 Champions of Hope honoree for Research & Science, about his own research into the neurodegenerative disorder Batten Disease, how that led to the development of CoRDS, and the role patient registries can play in accelerating rare disease research and the development of new therapies.

Carri Levy’s search to find answers to her daughter’s lifelong illness was made worse by doctors that insisted there was no problem. A producer for the daily morning show The Balancing Act on Lifetime TV, Levy launched the series Behind the Mystery: Rare and Genetic, in effort to search for answers to her daughter’s illness. As part of a series of podcasts revisiting past winners of Global Genes’ Champions of Hope award, we spoke to Levy, a 2013 advocacy honoree, about her search for a diagnosis for her daughter, her own transformation into being a patient advocate, and what effect connecting to the rare disease community through her television show has had on her.

As a child, Sami Petersen developed progressive scoliosis, a severe curvature of the spine as a result of a rare genetic disease. The condition eventually led to complex spinal surgery to correct the worsening deformity, pain, and complications. As she recovered from her operation, Petersen, who was 15 at the time, decided to launch the organization SHIFT Scoliosis, which has grown from a small awareness initiative to an organization that is reaching thousands of people through its education, awareness, and outreach programs. As part of a series of podcast revisiting past winners of Global Genes Champions of Hope award, we spoke to Petersen, a 2014 teen advocacy honoree, about her experience with scoliosis, what led her to launch SHIFT, and how she’s reaching people around the world.

The U.S. Food and Drug Administration approved more than 230 new drugs to treat rare diseases in the past decade and there are currently more than 450 orphan drugs in development, according to a new report (http://onphr.ma/1EsGJw6) from the Pharmaceutical Research and Manufacturers of America. Though developing drugs for rare diseases presents many challenges, policy changes and scientific breakthroughs have helped changed the landscape. We spoke to Gretta Stone, Deputy Vice President of Policy and Research at PhRMA, about the report, how the Orphan Drug Act encouraged investment in R&D for rare diseases, and what fuels her optimism for drug development efforts to combat this group of diseases in the years ahead. Also, we check in with Run4Rare's Noah Coughlan as he continues his 3,100 mile run across the country to raise awareness for rare diseases.

Though there are almost 7,000 rare diseases, less than 500 drugs have been approved to treat any one of them. What that means for millions of people with a rare disease is that there’s no approved treatment they can use. There is, however, a growing effort to look at drugs approved for other uses and repurpose them to treat rare diseases in which they might be effective. We spoke to Julia Jenkins, executive director of the EveryLife Foundation for Rare Diseases about why repurposing approved drugs could greatly increase the available treatments for rare diseases, what draft legislation would do to encourage drugmakers to pursue these opportunities, and why experiences from past legislation suggest the approach could be quite effective.

Recursion Pharmaceuticals has set the audacious goal for itself of developing 100 drugs in 10 years for rare diseases. The company, focused on repurposing compounds abandoned in clinical development by other drugmakers, thinks it can achieve this by a fundamentally different approach to drug development than the industry’s traditional process of screening compounds against potential disease targets. We spoke to Chris Gibson, founder and CEO of Recursion, about the approach his company is taking, whether rare diseases particularly lend themselves to it, and whether it has implications more broadly for drug development.

Noah Coughlan will set out on a 3,100 mile run across America from the Statue of Liberty to San Diego’s Ocean Beach in the hope of raising awareness and support in the fight against rare diseases. It will be the third run across the country for the founder of the Run4Rare Foundation and begin on February 28, World Rare Disease Day. We spoke to Coughlan about his run, what motivated him to do this, and what he hopes to accomplish.

The search for cures for diseases is limited by the ability of scientists to consume and understand the rapidly expanding volumes of biomedical literature produced each year. Andrew Su, associate professor in the department of Molecular and Experimental Medicine at The Scripps Research Institute, has a solution. He wants to enlist members of the rare disease community and general public to become citizen scientists and pour through biomedical journals to help find connections and identify research in one area that may shed light on another. We spoke to Su about his project Mark2Cure, the role crowdsourcing can play in accelerating rare disease research, and why members of the rare disease community may better suited for elucidating important findings than supercomputers.

World Rare Disease Day, an annual observance held on the last day of February, seeks to raise awareness for rare diseases. On that day, hundreds of patient organizations from more than 80 countries will be participating in activities to call attention to thousands of ailments, many of which are without treatments or even names. We spoke to Hudson Freeze, director of the Human Genetics Program at Sanford Burham Medical Research Institute, about World Rare Disease Day, the importance of raising awareness, and how research into rare diseases can shed light into more common ailments.

At the age of 8, Bill Elder, Jr. was diagnosed with cystic fibrosis, a rare, genetic disease expected to cut his life short. Now a third year medical student, Elder has been the beneficiary of Vertex Pharmaceutical’s Kalydeco, an example of the transformative effects personalized therapies can have on patients. As President Barack Obama announced plans for a precision medicine initiative during his State of the Union address, Elder sat alongside First Lady Michelle Obama as a living and breathing testament to the promise of precision medicine. We spoke to Elder about his recent visit to Washington, his experience with cystic fibrosis, and the difference Kalydeco has made in his life.

The combination of high cost, long development times, and small patient populations for rare diseases is driving new models to accelerate drug development. The story of the newly formed rare disease company Vtesse is a compelling example. Driven by parents, advanced to the clinic by the National Institutes of Health, and licensed by a new company formed out of an orphan drug accelerator, Vtesse is advancing an experimental drug to treat Niemann Pick Disease Type C and other lysosomal storage disorders. We spoke to Ben Machielse, CEO of Vtesse, about his company, the unusual collaborations that led to its formation, and what it says about how patients, government, investors, and industry can work together to speed the development of new therapies for rare diseases.

Crowdfunding, once thought of as little more than a way to raise money for small scientific projects, is increasingly being used to raise significant capital to fund startups. Perlstein Lab, a San Francisco-based starup focused on finding new drugs to treat rare diseases, raised more than $2 million using crowdfunding. We spoke to Ethan Perlstein, founder and CEO of Perlstein Lab, about his company, the potential of crowdfunding, and the unusual role social media has played in his efforts to raise capital.