Rarecast

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 and standardize the genes used to diagnose specific rare diseases. We spoke to Ellen McDonagh, lead scientific curator at Genomics England about PanelApp, why the organization has decided to use this crowdsourcing approach, and what it ultimately hopes to accomplish.

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 advocacy, about her battle with Ehler-Danlos Syndrom, how she’s come to appreciate what her disease has taught her, and her work with other teen rare disease advocates to form We Are More, an effort to convey to the media and public that teens with chronic illnesses are defined by more than their diseases.

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 Foundation for Rare Diseases, about the legislation, where it stands today, and what it will take to see it become law.

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 lung capacity. We spoke to Bentley about life as a competitive athlete with cystic fibrosis, how she managed her disease with her physically demanding pursuits, and her life now as a patient advocate.

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.

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.

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 motivation, and how he’s learned to live with, rather than for, his disease.

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.

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 nature of medicine.

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. We spoke to Langley about his path to a diagnosis, his life since then, and why has decided to be so public about his condition.

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 information.

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 incorporate patients’ perspectives into the drug review process.

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 take control of their own healthcare

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. We spoke to Paddock about his story, his efforts to raise awareness and support for children with disabilities through his OM Foundation, and how he is working to empower children with disabilities and their families to live life beyond limits.

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.

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 change the role of patients.

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 therapies, and how these technologies promise to bring new approaches to treating devastating diseases.

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 related patents.

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 a role for themselves in education campaigns for patients and providers. We spoke to Heather Gartman, regional managing director of InVentiv Health, about the report, the changing dynamics between pharmaceutical companies and patient advocacy organizations, and whether the long-term health of the symbiotic relationship is in jeopardy.

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 Bellini, CEO of Bellus Health, about the transformation of the company, the changing environment for orphan drugs, and why being a rare disease drug company is an attractive business model today.