RARECast

RaNA Therapeutics is pursuing treatments for rare diseases, such as spinal muscular atrophy and Friedreich’s Ataxia, with a new therapeutic approach that targets a previously unexplored druggable space. We spoke to Ron Renaud, CEO of RaNA, about his company’s effort to selectively upgregulate genes as a way to treat and prevent disease, the challenges in developing such drugs, and why the company...

Invitae is changing medical practice by brining genetic testing into the mainstream. The company says it seeks to aggregate most of the world’s genetic tests into a single service with higher quality, faster turnaround time, and lower price than many single-gene and panel tests today. The company recently announced new additions to the genes it tests for representing a major expansion of its panel...

Emmy award-winning filmmaker Rudy Poe, in 2012, turned his lens on Hugh and Chris Hempel to document their effort to find a treatment for their twin daughters suffering from a rare lysosomal storage disorder and reform medical research in the process. The film, “Here. Us. Now.,” introduced Poe to the world of rare diseases. Now he’s in the process of taking a deeper look at the people in the rare...

Large pharmaceutical companies have grown increasingly interested in rare diseases, but acquisitions of rare disease companies by large biopharmaceutical companies may lead to a cultural mismatch that hinders the development and performance of their products. We spoke to Alain Gilbert, co-chairman of the global strategic consulting firm Bionest Parnters and co-author of a February 2016 analysis in...

The 21st Century Cures Act, an ambitious piece of legislation of great concern to the rare disease community, passed the House last year only to stall the Senate. Now it’s back on the radar. The legislation is moving forward again, but this time in pieces. Separately in California, proposed legislation can greatly accelerate the process that tests are added to the list of newborn screening diagnos...

As pharmaceutical companies, spurred by the Orphan Drug Act, have delved deeper into the development of drugs to treat rare diseases, they have forged closer ties with patient advocates. While these relationships are driven by mutual interest, tensions sometimes arise because of divergent needs. We spoke to Heather Gartman, regional managing director of InVentiv Health, about the firms recent whit...

In “Orphan: The Quest to Save Children with Rare Genetic Disorders,” Philip Reilly, a clinical geneticist turned venture capitalist, recounts the history of developing therapies to treat rare diseases. We spoke to Reilly, a venture partner with Third Rock Ventures, about his own experiences in the clinic treating patients with rare diseases, how his perspective has changed as a venture investor, a...

Advances in sequencing the genome are unlocking mysteries about the underlying causes of both common and rare diseases. In an effort to build on existing research, The National Institutes of Health last month said it will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases. As part of this effort the Ce...

Kelly Ranallo, a rare patient advocate in Kansas City, is using World Rare Disease Day as a way to bring together the rare disease community in the region at a town hall meeting and to use that meeting to drive new initiatives. We spoke to Ranallo about her new organization Rare KC, the upcoming town hall meeting, and her vision for turning Kansas City into the home of a national center of excelle...

Only 60 percent of treatments for rare disorders make it into Canada and most get approved up to six years later than in the United States and Europe, according to the Canadian Organization for Rare Disorders. In an effort to change the rare disease landscape in Canada, CORD has released a multi-pronged rare disease strategy for the country. We spoke to Durhane Wong-Rieger, president and CEO of th...

Rare disease patient advocates from around the world will be working to raise awareness about rare diseases on February 29, World Rare Disease Day. Last year a group of patient advocates in Utah joined forces to create a statewide effort with great success. We spoke to Gina Szajnuk, co-founder and executive director of Rare and Undiagnosed Network and Committee Chair for Utah Rare 2016, about the...

The high cost and long time it takes to develop drugs has people looking for alternative strategies for finding new treatments. One such approach is repurposing—finding new uses for already approved drugs. This is particularly compelling for rare diseases where small patient populations can serve as a disincentive to drug developers and the need for therapeutics is largely unmet. We spoke to Bruce...

One of the most promising areas for rare disease treatments is gene therapy, part of the emerging area of regenerative medicine. Though long considered a therapy of the future, a number of therapeutics with the potential to treat rare diseases are advancing through the clinic. We spoke to Karen Kozarsky, managing partner at Vector Partners, ahead of the the Alliance for Regenerative Medicine’s Jan...

Rare disease research may focus on individual diseases that affect small patient populations, but often the information gleaned from this work can provide insights into far more common diseases. We spoke to Paul Schindler, executive director and CEO of the Rare Genomics Institute, about the broader benefits of rare disease research, why it can elucidate our understanding of common diseases, and th...

The Orphan Drug Act has provided critical incentives that have helped fuel the development of scores of drugs to treat rare diseases. But health experts at Johns Hopkins Medicine are calling for reform of the act to stop potential abuses by drugmakers they say have gotten huge subsidies and tax breaks for drugs that have been used far more broadly than the law intended to reward. We spoke to Marti...

The dating world can be difficult to navigate for most people, but for a woman with a variety of rare diseases, the dating world poses additional challenges. Chelsea Freund, author of The Sick and the Dating blog (thesickandthedating.com), chronicles her experiences looking for love while contending with both diagnosed and undiagnosed conditions. We spoke to Freund about her blog, the experiences...

The gene editing technology known as CRISPR has won recognition as a powerful research tool, but a new study from scientists at The Hospital for Sick Children in Toronto is hailing the technology for its potential therapeutic applications. The study, published in the December 10 online edition of the American Journal of Human Genetics, shows how researchers, for the first time, used CRISPR to remo...

When Sam Kimura was diagnosed with the rare blood disorder aplastic anemia, she began seeking a bone marrow donor to treat her disease. Her sister Alex was more likely than someone not related to her to be a match, but testing showed she wasn’t. Not willing to passively wait for a match, the two embarked on a cross country trip to raise awareness for bone marrow transplants and encourage people to...

After Mike Porath and his wife received a diagnosis of a rare disease for their daughter, he said they felt lost. What helped them most, though, was talking to other parents facing the same thing they were. A career journalist, the experience eventually led Porath to create The Mighty, an online publication to help people facing disability, disease, mental illness, and chronic health conditions wi...

Sharon King, a rare disease advocate in North Carolina, saw an opportunity to accelerate the development of new therapies for patients while forging a leadership role for the state in the area of rare diseases. King, president of Taylor’s Tale, helped craft legislation that created an advisory council on rare diseases to provide guidance on research, diagnosis, treatment and education. We spoke to...

People often focus on the large amounts of money it takes to conduct biomedical research or develop potential therapeutics, but sometime small grants can have big impacts on the lives of people with rare diseases. Caroline Harding, CEO of Genetics Disorders UK, discusses her own journey through the rare diseases world following the birth of her son Columbus, and how she saw, through her own work,...

Teenagers and young adults with chronic and rare diseases are often acutely aware of how their conditions make them different. That point can be made painfully clear by classmates and others who may avoid or bully them. Filmmaker Lisa Hedley and behavioral therapist Michelle Kupfer, both mothers raising children of difference, created Difference Diaries after a chance meeting. Through short films...

There are about 1,000 metabolic disorders, but these genetic rare diseases can go undiagnosed in part because most doctors have so little training in recognizing them. To address this problem, the Genetic Metabolic Center for Education provides both consulting and training in the hopes of improving the diagnosis and care of these patients. We spoke to Mark Korson, medical director of the Genetic M...

At the age of 21, Matthew Zachary, a college senior, concert pianist, and composer was diagnosed with a brain tumor and not expected to live long. He survived his cancer and through the experience became aware of the gap in resources for young adult cancer patients and cancer survivors. To address that gap he launched what became Stupid Cancer, an organization that focuses on the needs of this oft...

When Karen Aiach’s daughter was diagnosed with Sanfilippo Syndrome A, a rare neurodegenerative disease, she and her husband established a nonprofit to fund research. Eventually, as the work progressed, they launched Lysogene, a biotechnology company focused on gene therapy. We spoke to Aiach, CEO of Lysogene, about Sanfilippo Syndrome A, why the focus on gene therapy, and the progress the company...