Rarecast

When Daniel de Boer’s son was diagnosed with Cystic Fibrosis, the serial entrepreneur gathered a group of biotech experts to pursue a new approach to treating rare diseases. His company ProQR is developing a platform for correcting faulty RNA that underlie specific rare diseases. We spoke to de Boer about how he came to launch ProQR, the company’s platform technology, and why the approach may be able to address a broad range of diseases.

Joseph Merrick, who was known as the Elephant Man, suffered from Proteus syndrome, a rare disorder that causes abnormal and disproportionate overgrowth of the skeleton, skin, adipose tissue, and central nervous system. ArQule is developing a treatment for Proteus syndrome and other overgrowth disorders. We spoke to Brian Schwartz, chief medical officer of ArQule, about its potential treatment for Proteus syndrome, how it works, and why it may have implications in a number of other indications including several forms of cancer.

BrainStorm Cell Therapeutics is developing autologous stem cell therapies for debilitating neurodegenerative diseases such as ALS. Its platform technology induces mesenchymal stem cells to secrete high levels of neuro-protective factors that promote the survival of neurons. We spoke to Chaim Lebovits, CEO of BrainStorm, about ALS, the company’s platform technology, how the company’s approach may be able to address a range of neurodegenerative diseases.

Dystrophic epidermolysis bullosa is a rare genetic disease that affects the skin and other organs. People with the condition have skin that is so fragile that minor trauma can cause blistering and wounds. It is a painful condition and can have fatal consequences. Krystal Biotech is developing a gene therapy delivered as a topical gel for DEB and other skin conditions. We spoke to Krish Krishnan, CEO of Krystal Biotech, about the company’s gene therapy platform, why it uses the herpes simplex virus as a vector, and how its off-the-shelf gene therapy works.

Lisa Bentley spent 20 years competing as a professional athlete, although early in her career she kept secret that she suffered from the rare lung disease cystic fibrosis. Despite her medical condition, Bentley won 11 Ironman races and 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. We spoke to Bentley about her new book An Unlikely Champion, why she eventually went public about her condition, and why she considers having CF a gift.

Fragile X Syndrome is a rare developmental disorder and the most common cause of inherited intellectual disability. Tetra Discovery Partners, building on research about the role the enzyme PDE4 plays in the disease, is developing an experimental drug to inhibit its activity. We spoke to Mark Gurney, chairman and CEO of Tetra Discovery Partners, about Fragile X, the potential of its PDE4 inhibitor, and why this drug may have therapeutic benefit in a range of neurodegenerative diseases.

The treatment of hemophilia has been moving toward longer periods between the dosing of recombinant factors. Now, with the advent of gene therapies, the potential of a one-time curative treatment appears to be on the horizon. But Catalyst Biosciences believes it can improve care for patients with the rare bleeding disorder with a daily self-injection. We spoke to Nassim Usman, CEO of Catalyst, about the company’s approach to hemophilia, how its drugs work, and why he believes his company’s pipeline may provide better alternatives for hemophilia patients.

Rare cancers, like other rare diseases, face the challenges of mustering research attention, access to patients and biological materials, and generating the interest of drug developers. Nevertheless, as a group, rare cancers are the leading cause of cancer deaths in the United States. The Rare Cancer Research Foundation is seeking to change the research and development landscape in rare cancer by bringing together patient organizations and researchers and building the necessary pieces needed to advance research and the development of therapeutics. We spoke to Barbara Van Hare, Director of Foundation Partnerships at The Rare Cancer Research Foundation, about the rare cancer landscape, how the foundation is forging collaborations between patient groups and researchers, and how its Pattern.org project is developing a crucial source of biological samples to advance research.

In August 2016, Luke Rosen’s two-year old daughter, Susannah, was diagnosed with a rare, neurodegenerative disease called KIF1A Associated Neurological Disorder. At the time, she was one of only about 15 people known to have the condition. Ahead of the upcoming RARE Patient Advocacy Symposium hosted Saturday, May 19 by Global Genes, in partnership with the Penn Medicine Orphan Disease Center at the University of Pennsylvania's Perelman School of Medicine, we spoke to Rosen about his journey as a patient advocate, how he has sought to build an organization to advance research into his daughter’s condition, and his work now as a patient advocate within a biotech company.

For patients with a rare disease, the diagnostic odyssey can be a long journey fraught with many wrong answers. The Undiagnosed Diseases Network is a research study funded by the National Institutes of Health to bring together clinical researchers from across the country armed with advanced technologies to solve the most vexing cases. Ahead of Undiagnosed Disease Day on April 29, we spoke to Kimberly LeBlanc, associate director of research operations for the Undiagnosed Diseases Network, about the challenges rare disease patients face in getting a diagnosis, how the network works, and why its work holds the potential to help clinicians better diagnose rare disease patients.

Before most rare disease patients have a name to give their condition, they go on a diagnostic odyssey than can take years and usually involves multiple specialists. For some patients, the answer never comes. In the absence of a diagnosis, patients face significant challenges getting the care they need, reimbursed by insurers, or necessary accommodations from schools or employers. Ahead of Undiagnosed Disease Day, which takes place April 29, we spoke to Gina Szajnuk, executive director of the Rare and Undiagnosed Network and Matt Might, Director of the Hugh Kaul Personalized Medicine Institute at the University of Alabama at Birmingham School of Medicine. They discussed what it’s like to be undiagnosed, efforts to raise awareness about the plight of undiagnosed patients, and why “undiagnosed” is a diagnosis.

Seth Rotberg grew up in the shadow of Huntington’s disease, a rare, genetic, neurodegenerative condition. Children of people with Huntington’s have a 50 percent chance of developing it themselves. When Rotberg was in college, he made the decision to get tested to see if he too would develop the disease. We spoke to Rotberg about his decision to get tested, why he largely kept the results to himself for two years, and what led him to become a patient advocate.

For people with inherited retinal diseases, gene therapies carry the promise of potentially preventing and even curing blindness. But the small patient populations for with people these conditions make it difficult to attract commercial interests. Odylia Therapeutics, a recently unveiled nonprofit gene therapy developer, is hoping to bridge the gap between academic researchers and drug developers by conducting preclinical and early-stage clinical development on gene therapies for inherited eye diseases. We spoke to Scott Dorfman, co-founder and CEO of Odylia, about what drove the creation of the company, how it works as a nonprofit, and whether it may make sense to extend the model to carry these therapies to patients.

While breakthroughs in the ability to diagnose newborns with genetic diseases continues to expand in scope and fall in cost, the extent of newborn screening varies state-by-state. Nevertheless, the improving affordability of newborn screening is expanding access to these tests for parents seeking them. We spoke to Eric Schadt, CEO of Sema4, about the changing landscape for newborn screening, the company’s Natalis test, and how far off we are from routine screening of newborns with comprehensive genetic sequencing.

Inflammation is a complex biological response to potential threats. But sometimes when the immune system is triggered, its fails to resolve, and unwanted damage ensues. Many inflammatory diseases result from a flooding of signals to activate the immune system without adequate off-signals to resolve it. Corbus Pharmaceuticals lead candidate lenabasum targets the immune system off-switch. The company is in late-stage testing of the experimental therapy for the rare condition systemic sclerosis. We spoke to Yuval Cohen, CEO of Corbus, about the workings of the immune system, what lenabasum does, and why it may have use in a broad number of chronic inflammatory and fibrotic conditions.

Developing therapeutics for rare diseases can be challenging, and not just because of the small patient populations. Often the progression of a disease is not well understood, the patient population can be heterogenous, and the development of objective and meaningful endpoints for a trial can be difficult. We spoke to Ralf Rosskamp, chief medical officer of Dicerna, about how his company has navigated the various challenges in its effort to develop a treatment for a rare liver disorders, how it finds patients, and how it determines endpoints.

Nearly a year ago, more than 400 members of spinal muscular atrophy community along with industry, clinicians, and researchers convened a patient-focused drug development meeting with the U.S. Food and Drug Administration to give voice to patient views on the impact the rare condition has on their lives and their priorities for treatments. CureSMA, which organized the event, recently issued its Voice of the Patient report based on the meeting. We spoke to Rosángel Cruz, associate research director of clinical affairs for CureSMA about the report, how it is being used, and what other patient groups could learn from CureSMA’s experience.

Makayla Allison’s daughter Lily was born with a rare genetic disease with many symptoms, complex challenges, and no diagnosis. As she grew older, one of the things she told her mother she wanted was to have friends like her, ones with the same health issues. That led Allison to create Someone 1 Like You, an online service that connects people with rare diseases with others with the same conditions. We spoke to Allison, founder and CEO of Some 1 Like You, about the genesis of the service, how it works, and why a diagnosis isn’t necessary to finding a connection.

Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Though people with the disease can look long and lean and ideal for certain sports, strenuous activity can be dangerous because the disease can cause enlargement of the aorta and lead to sudden death under extreme exertion. For Marfan Syndrome Awareness Month we spoke to Alan Braverman, professor of medicine at Washington University, cardiologist at Barnes-Jewish Hospital and a member the professional advisory board and board of directors of The Marfan Foundation, about the disease, how it’s diagnosed, and what patients with the condition can do to lead a long and healthy life.

Rare disease centers at academic institutions are usually places that focus on early-stage research of faculty members, but the Orphan Disease Center at the University of Pennsylvania’s Perelman School of Medicine takes a multidimensional approach to address the needs or the rare disease community. In addition to conducting its own research, the center collaborates with both pharmaceutical companies and patient groups, makes grants to support external research, and helps patient groups and families find new researchers and helps guide them to develop essential tools to work on a specific disease. We spoke to Ashley Winslow, senior director of portfolio development at the center, about its work, how it has evolved from its origins, and how it leverages the work it does through collaboration.