Rarecast

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, and what the future holds in the battle against rare diseases.

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 Centers of Mendelian Genomics is expected to get $40 million in new funding, as well as additional monies from other NIH divisions. We spoke to Lu Wang, director of the National Institutes of Health’s Center for Mendelian Genomics, about the center’s efforts to understand rare diseases, what’s been accomplished to date, and the significance of this new round of funding.

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 excellence for rare diseases.

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 the Canadian Organization for Rare Disorders, about the need for a national strategy, the effort to pass a regulatory framework for orphan drugs, and what it will take to make a national strategy a reality.

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 experience in Utah, why it was successful, and what was learned last year that’s shaping this year’s approach.

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 Bloom, president and chief science officer of Cures within Reach, which launched the crowdsourcing platform CureAccelerator to fund repurposing research for rare diseases. Bloom discussed the benefits of repurposing, how the CureAccelerator will work, and why he believes the initiative could help to build a new approach to repurposing research and developing treatments for rare disease.

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 January 27 roundtable on rare diseases. Kozarsky discussed the promise gene therapy holds for rare diseases, the challenges in developing these therapies, and the progress being made.

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 the case for why this work should matter to everyone.

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 Martin Makary, professor of surgery at Johns Hopkins and a coauthor of a recent commentary in the American Journal of Clinical Oncology, about the Oprhan Drug Act, the unintended role it is playing in the growing controversy over drug prices, and why he thinks reform that protects the original intention of the act is needed.

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 she’s shared, and the advice she has for others in similar circumstances.

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 remove a duplicated gene from a genome and restored the function in the gene that causes Duchenne muscular dystrophy. We spoke to principal investigator of the study Ronald Cohn, Chief of Clinical and Metabolic Genetics and Co-director of the Centre for Genetic Medicine at SickKids, about the study, the next steps to advance the work, and the potential of the gene editing technology to be used in the treatment of a broad range of genetic diseases.

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 register for a database of potential donors. We spoke to Alex Kimura, executive director of Sharing America’s Marrow, about her cross country journey with her sister, the response they’ve gotten, and how they are changing people’s perception of what it takes to make a potentially life-saving bone marrow donation.

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 with the belief that real stories from real people can be empowering. We spoke to Porath about his own experience as a parent of a child with a rare disease, the evolution of The Mighty, and what he’s discovered about the benefits people get from sharing their own stories.

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 King and Tara Britt, associate director of the newly created North Carolina Rare Disease Advisory Council, about the development of the legislation, how it seeks to leverage the strong academic and biotechnology assets already in the state, and whether it represents a model that can be replicated elsewhere.

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, the important role small grant making could play. We spoke to Harding about her experiences, her organization’s Jeans for Genes program, and how small grants can sometimes be the catalyst to transform the lives of people.

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 made by young adults with chronic and rare conditions, they are working to, as their tagline says, inspire, teach, and engage. We spoke to Kupfer about Difference Diaries, its origins, and the impact it is having.

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 Metabolic Center for Education, about the challenges metabolic disorders pose, why so many people go undiagnosed, and how the center is seeking to fundamentally change the way that knowledge is disseminated in the hopes of increasing patient access to a diagnosis and treatment.

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 often overlooked segment. We spoke to Zachary about his own experience with cancer, the evolution of his organization, and why he considers his illness the best thing that ever happened to him.

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 has made to date.

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 turning the research model on its head. We spoke to Fajgenbaum, executive director of the Castleman Disease Collaborative Network and research assistant professor of medicine at the University of Pennsylvania, about his organization’s approach to research, the progress it has made in the short time it’s been around, and how it can serve as a model to other groups looking to accelerate research about rare diseases.