RARECast

Terry Pirovolakis became immersed in the world of rare disease after his son Michael was diagnosed with spastic paraplegia 50, an ultra-rare and progressive neurodegenerative disease. Later this month, interdisciplinary teams from around the world will gather as part of a 30-day hackathon to develop therapeutic strategies for Michael’s condition. We spoke to Pirovolakis about Michael’s disease, ho...

David Giljohann likens his company’s spherical nucleic acid (SNA) constructs to Koosh balls. But instead of having elastic strings extending from their core, this new class of immunomodulatory and gene regulating drugs are covered with nucleic acids that stick out in all directions. The arrangement allows these oligonucleotides to be taken up by all cell types and can be delivered throughout the b...

Protalix Biotherapeutics plant cell-based platform has been a point of differentiation for the company, a faster and more scalable way of producing protein therapeutics. The company first product, an enzyme replacement therapy for Gaucher disease, offered a proof of its approach. The company is pursuing therapies for Fabry disease and cystic fibrosis, as well as inflammatory diseases, but it is al...

Antisense pioneer and Ionis Pharmaceuticals Executive Chairman Stanley Crooke has launched a nonprofit to design and deliver custom RNA-targeted therapies free of charge for individual patients with ultra-rare diseases. The organization, n-Lorem Foundation, will leverage Ionis’ technology platform to speed the discovery and development of custom antisense oligonucleotide. We spoke to Crooke about...

One of the reasons for the clinical failure of drugs is that animal models often fall short as predictors of how a drug will work in humans. StemoniX believes it can cut the time and cost of drug discovery with its microOrgans that are engineered from human induced pluripotent stem cells. These microOrgans can be used for high throughput human drug screening without the need for drugs to enter a h...

In December, Castle Creek Pharmaceutical Holdings completed its acquisition of Fibrocell. The deal brought together two companies developing therapies for rare skin disorders. We spoke to John Maslowski, CEO of the combined company, about its late-stage gene therapy in development for recessive dystrophic epidermolysis bullosa, how it differs from what is conventionally thought of as gene therapy,...

ALS is a progressive neurodegenerative disease. As motor neurons die, people with the condition grow weaker and lose motor function. For most, death occurs within three to five years of diagnosis. Brainstorm Cell Therapeutics is conducting a phase 3 clinical trial of its autologous stem cell therapy that programs cells taken from patients to produce neuro-protective factors that promote the surviv...

Earlier this month, Origin Biosciences initiated a rolling submission with the U.S. Food and Drug Administration for approval to market an experimental therapy to treat the ultra-rare metabolic condition molybdenum cofactor deficiency (MoCD) Type A. The condition manifests itself shortly after birth and leads to difficulty feeding and intractable seizures. Children with the condition have a median...

There is no clear agreement as to what constitutes a rare disease, the actual number of rare diseases, and how individual rare diseases are defined. The lack of clarity on the matter is not just an academic issue. The consequences of this, say researchers, is that it slows the diagnostic process and impedes the development of needed therapies for these conditions. In a recent commentary in the jou...

Drug developers and regulators are rapidly expanding the use of real-world evidence to develop rare disease therapies, but a new report finds payers are far less enthusiastic about incorporating such data in evaluating the value of therapies. The report from Syneos Health found payers have concerns about a lack of standards and have gaps in their understanding. We spoke to Meg Alexander, head of t...

Rich Horgan was attending Harvard Business School when he started reaching out to leading researchers to learn about his brother Terry’s condition Duchenne muscular dystrophy and what could be done to accelerate efforts to find a cure. Horgan was taken with the work of Timothy Yu to develop a customized therapy for a young girl with a form of the rare neurological condition Batten disease and foun...

Expanded access—a means of allowing people with serious and life-threatening conditions who fail to meet the enrollment criteria of a clinical trial to gain access to experimental therapies —has become an area of growing interest among the rare disease community. Though so-called right-to-try legislation has allowed patients to bypass regulators, it has done little to address the true obstacles pa...

When Kyle Bryant was diagnosed with the rare neuromuscular disease Friedreich's ataxia, it upended his sense of himself and his future as he began to wrestle with feelings of anger and depression. His life changed, though, when he read about a man with multiple sclerosis and his use of a recumbent trike, an adult-sized tricycle with a reclined seat. Bryant was inspired and shortly planned a cross-...

Keisha Greaves was studying for a career in fashion and business when she was diagnosed with limb-girdle muscular dystrophy, a rare and progressive neuromuscular condition. Rather than let her disease sidetrack her entrepreneurial vision, she has used it as a source of inspiration. She launched Girls Chronically Rock to produce T-shirts and adaptive clothing that celebrates and empowers people wit...

Seth Rotberg and Kristina Wolfe have each felt the isolation of entering adulthood in the shadow of rare and chronic disease. Rotberg, whose mother was diagnosed with Huntington’s disease, had genetic testing as a college student that showed he too will develop the neurodegenerative condition. Wolfe has grown up with type 1 diabetes. The two founded Our Odyssey to help young adults connect, find s...

Cristol O'Loughlin grew up with three older brothers with the rare lysosomal storage disorder MPS II, or Hunter syndrome. The experience of seeing the demands on her mother led her to create Angel Aid Cares, an organization that seeks to support and connect caregivers, and help them learn to care for themselves while caring for others. We spoke to O’Loughlin about the challenges caregivers face, w...

Disorder: The Rare Disease Film Festival features films from around the world that capture the challenges of life with a rare disease. Launched in Boston in 2017, the festival will be held in San Francisco November 9 and 10 at the UCSF Mission Bay Campus. We spoke to Bo Bigelow, co-founder of Disorder, about what’s showing at this year’s festival, the power of film to raise awareness about rare di...

Last month, Deep Genomics garnered headlines when it declared that it had nominated the industry’s first artificial intelligence-discovered therapeutic candidate. The experimental therapy is intended to treat Wilson disease, a rare and potentially life-threatening condition. The target for the therapy was also identified by the company’s AI platform and Deep Genomics said it was able to identify t...

Shane Burcaw and Hannah Aylward, known to YouTube viewers as Squirmy and Grubs, often find people have trouble comprehending their relationship. Burcaw, who is disabled as a result of spinal muscular atrophy, weighs just 65 pounds and has limited physical abilities. As the title of his latest book explains, “Strangers Assume My Girlfriend Is My Nurse.” We spoke to Burcaw and Aylward about their re...

Jeremy Levin’s high-profile success at building the pipeline at Bristol-Myers Squibb through deal-making and driving the company into immunotherapies, has given him the ability to take virtually any job he’d like in the biopharmaceutical sector. Given that, it may seem surprising the Big Pharma executive chose to become CEO of a development-stage company focused on rare neurological conditions. We...

Jennifer and Tracy VanHoutan lost two children in less than two years to CLN2 Batten disease, a rare, genetic, neurodegenerative condition that slowly robs children of their abilities before taking their lives. The VanHoutans founded Noah’s Hope to create awareness, raise money to fund research, and eliminate policy barriers to bringing therapies to patients. Despite their loss, they continue to a...

When David Fajgenbaum was in medical school, he became stricken with a rare autoimmune disease that nearly killed him. Though he recovered, he would suffer recurring, life-threatening flares only to discover the poor state of research into condition. Fajgenbaum chronicles his rare disease journey and his efforts to drive research and find treatments in his new book “Chasing My Cure: A Doctor’s Rac...

Journalist and best-selling author Susannah Cahalan, ahead of her keynote address at the Global Genes’ RARE Patient Advocacy Summit September 18 in San Diego, discusses about her diagnostic odyssey, the critical role the support of her loved ones made, and what allowed the doctor who diagnosed and treated her to succeed where others had failed.

Nancy Patterson was diagnosed 32 years ago with Graves’ disease, a rare autoimmune condition that causes the thyroid to become overactive and can lead to a range of health complications. Patterson, a practicing mental health counselor, founded the Graves’ Disease and Thyroid Foundation, which she led for nearly 20 years. In her counseling role, she has worked with patients and families across the...

Epigenetics is the study of the regulatory system that controls how genes are turned on or off. In certain cancers, the proteins that regulate gene expression become dysregulated and incorrectly activate or deactivate genes, which can lead to cancer. Salarius Pharmaceuticals is targeting the epigenetic causes of cancer, including rare pediatric cancers. We spoke to David Arthur, CEO of Salarius ab...