RARECast

When David Fajgenbaum was in medical school he developed a rare autoimmune disease that nearly killed him. As he learned more about the state of research into the disease, he discovered researchers were all working in silos and driven by misaligned incentives. He soon abandoned his plans to become a clinical oncologist and co-founded the Castleman Disease Collaborative Network with the intent of t...

Genomics England, as part of its 100,000 Genomes Project, is turning to crowdsourcing to help develop gene panels to diagnose some 130 rare diseases. PanelApp, as the tool has been dubbed, creates evidence-based gene panels for rare diseases that can be downloaded and viewed by anyone. By calling on rare disease experts from around the world to review the panels, Genomics England hopes to validate...

Teenage girls, under normal circumstances, wrestle with issues of identity and body image. But for young women with a chronic, rare disease, those struggles can be more complicated. That makes the wisdom, self-awareness, and self-confidence that shine through The Sick Chick blog all the more remarkable. We spoke to Shira Strongin, founder of The Sick Chick and a Global Genes 2015 honoree for teen...

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 sp...

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...

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...

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...

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 a...

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 go...

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 th...

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 debilita...

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...

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 developmen...

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,...

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 mountai...

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 awarenes...

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...

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 tria...

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 ro...

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 phar...

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 it...

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 ha...

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, Ex...

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 gr...

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...