The rare disease community in July celebrated the passage in the House of the 21st Century Cures Act, legislation that promises among other things to accelerate the development of drugs to treat rare diseases. But the legislation appears to be stalled in the Senate as the clock is running and concern growing that it may not be getting the attention it needs to push it across the finish line. We spoke to Max Bronstein, senior director of public and government relations for the Everylife Foundatio...
Oct 02, 2015•18 min
For 20 years, Lisa Bentley competed as a professional triathlete with impressive results. She won 11 Ironman races, 11 half Ironman races, had several top five finishes at the Ironman World Championships, and represented Canada on multiple National Teams and at the Pan American Games. For a decade, Bentley ranked number five in the world. All of that is all the more impressive considering Bentley did so with cystic fibrosis, a rare genetic lung disease results in chronic infections and limits lu...
Sep 25, 2015•19 min
Caregivers, an often overlooked part of the healthcare continuum, play a critical role in the world or rare diseases. But with this role, usually taken on by family members, comes physical, emotional, and financial stress. We spoke to Grace Whiting, Director of Strategic Partnerships for the National Alliance for Caregiving, her organization’s study of caregivers, the issues they face, and policy changes needed to better support them.
Sep 17, 2015•21 min
The emergence of gene therapy is giving hope of new treatments for rare diseases. Abeona Therapeutics is one of a new generation of therapeutics companies working to address life-threatening rare diseases with this new therapeutic approach. We spoke to Michelle Berg, vice president of patient advocacy for Abeona, about the company, its pipeline, and the hope gene therapy holds for addressing rare diseases.
Sep 11, 2015•17 min
Travis Flores has had a lifelong battle with cystic fibrosis, a genetic disease that causes a buildup of mucus in the lungs and other organs and can lead to respiratory failure and problems in breaking down food and absorbing nutrients. Flores, who recently underwent a double lung transplant, continues to pursue his interests as an artist, philanthropist, and patient advocate. We spoke to Flores about his experiences, how rather than being a barrier, his disease has served as a source of motivat...
Sep 04, 2015•20 min
When Matt Wilsey daughter Grace was diagnosed with the ultra rare disease NGLY1 deficiency, he travelled the world to get a diverse group of researchers to work on finding answers. His approach to driving research, he says, comes from his experience as a Silicon Valley entrepreneur. We spoke to Wilsey about the experience getting a diagnosis for his daughter, what he learned from others who had gone before him, and the importance of open collaboration across institutions.
Aug 28, 2015•28 min
Genome, a quarterly magazine launched in 2014, is an effort to bring an understanding of the revolution driven by new insights into human genetics to patients, their families, and caregivers. It seeks to tackle complex issues in an accessible way to empower medical consumers and help them make better decisions about their own care. We spoke to Jeanette McCarthy, editor-in-chief of Genome, about the magazine, it history and goals, and how the scientific advances it tracks are forever changing the...
Aug 21, 2015•19 min
Scot Langley, better known as Froggy to listeners of the syndicate radio show Elvis Duran and the Morning Show, learned in 2010 he had acromegaly, a rare, debilitating endocrine disorder caused by a non-cancerous pituitary tumor that triggers overproduction of two hormones that stimulate growth. Langley had been living with unexplained symptoms for 10 years, including profuse sweating and debilitating headaches. He also watched his feet, hands and jaw grow abnormally without understanding why. W...
Aug 14, 2015•21 min
The Internet giant Google has set its sights on revolutionizing how researchers store, analyze, and share genomic data. The company recently entered into an agreement with the Broad Institute that allows it to integrate Broad’s Genomic Analysis Toolkit into Google Genomics. We spoke to David Glazer, director of engineering for Google, about its Google Genomics platform, the opportunity it sees in genomics, and what it’s doing to help researchers turn vast amounts of data into actionable informat...
Aug 07, 2015•24 min
The FDA Office of Orphan Products Development seeks to advance the evaluation of drugs and diagnostics to treat rare diseases. A growing toolkit of incentives has helped drive the development of new products for rare diseases, but the need remains great. We spoke to Gayatri Rao, director of the FDA’s Office of Orphan Products Development, about the rare disease landscape, how scientific developments are reshaping clinical trials and the use of biomarkers, and what the agency is doing to better i...
Jul 31, 2015•20 min
The world of healthcare is changing and patients today are taking a greater role in determining and coordinating their own care. Technology is playing a critical role in enabling the new patient of today and Yabidu and its online care notebook is an example of the types of tools allowing patients to become active participants in the process. We spoke to Todd Kozikowski, CEO and founder of Yabidu, about the company, how patients use its platform, and the ways technology is allowing patients to ta...
Jul 24, 2015•21 min
Bonner Paddock led an active childhood despite his physical limitations. After years of being misdiagnosed, he learned at age 11 that he had cerebral palsy, a nonprogressive brain injury that affects muscle movement and coordination. Rather than accept his physical limitations, Paddock went on to become the first person with cerebral palsy to climb Mt. Kilimanjaro, the tallest freestanding mountain in the world. He also went on to become an elite triathlete when he competed in the Kona Ironman. ...
Jul 17, 2015•18 min
On February 28, World Rare Disease Day, Noah Coughlan set out on a 3,100 mile run across America from New York City to San Diego’s Ocean Beach. The goal was to raise awareness for rare diseases. On July 4, right on schedule, he finished his run entering the water in San Diego before a crowd of supporters. We spoke to Coughlan, founder of the Run4Rare Foundation, about his efforts to raise awareness for rare diseases, his recent run, and how he plans to continue his efforts.
Jul 09, 2015•20 min
Patients, long passive participants in the drug research and development process, are playing a more active role, and the value of their input is being recognized by researchers, drugmakers, and regulators. The 21st Century Cures Act, sweeping legislation now pending in Congress, would help solidify that role by providing opportunities for patient input into the regulatory process. We spoke to Kim McCleary, managing director of FasterCures, about the legislation, why it matters, and how it will ...
Jul 02, 2015•33 min
Fibrocell Science is developing cell and gene therapy to treat rare skin and connective tissue diseases. The company recently reported encouraging pre-clinical results on its gene therapy for RDEB a congenital, progressive, and debilitating genetic disorder that leads to death. The data sets the stage for Fibrocell and its partner Intrexon to advance the experimental therapy to human clinical trials. We spoke to David Pernock, chairman and CEO of Fibrocell about the company, its cell and gene th...
Jun 25, 2015•19 min
Patent filings in the area of rare diseases suggest government incentives have worked to spur innovation, according to a new report from the international intellectual property firm Marks & Clerk. The report examines patent filings in the areas of rare diseases, antibiotics, and vaccines. We spoke to Gareth Williams, partner and European patent attorney with Marks & Clerk, about the report, the role Big Pharma is playing, and some surprises on the list of top filers of rare disease relat...
Jun 19, 2015•14 min
Disruptive changes to the healthcare landscape are creating new tensions in the traditional relationship between pharmaceutical companies and patient advocacy groups, according to the findings of a report from InVentiv Health. The report, based on interviews with nearly four dozen representatives of patient advocacy organizations, finds patient advocates expect greater transparency from their pharmaceutical partners, want to play an increased role in clinical trial design and execution, and see ...
Jun 12, 2015•13 min
Bellus Health was originally formed around technology seen as the basis for promising therapeutics for Alzheimer’s disease, but the company also pursued rare disease opportunities as well. Despite encouraging results, the financial crisis made it difficult for the company to advance its potential Alzheimer’s therapy. With a new CEO put in place, the company overhauled its strategy, out licensed its alzheimer’s drug and embraced its identity as a rare disease drug company. We spoke to Roberto Bel...
Jun 05, 2015•20 min
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 Palk...
May 29, 2015•24 min
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 disease...
May 22, 2015•19 min
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 ef...
May 15, 2015•15 min
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 in...
May 08, 2015•16 min
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 a...
May 01, 2015•15 min
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 availab...
Apr 24, 2015•13 min
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 Proj...
Apr 17, 2015•28 min
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,...
Apr 10, 2015•19 min
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 ca...
Apr 03, 2015•22 min
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...
Mar 27, 2015•17 min
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, aw...
Mar 20, 2015•17 min
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 ...
Mar 13, 2015•28 min
