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RARECast is a Global Genes podcast hosted by award-winning journalist Daniel Levine. It focuses on the intersection of rare disease with business, science, and policy.
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Accelerating Treatments for Rare Disease through Data Sharing
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Patients’ data is critical to rare disease innovation, but it does little to help advance progress if it is not widely accessible to researcher. RARE-X is a nonprofit working to bust data silos through a federated data-sharing platform and empower rare disease patient communities to more easily gather, structure and securely share critical data thr…
The genetic basis of sickle cell disease has been long understood, but it has only been recent that new treatments and a growing pipeline of therapies have emerged. The inherited blood disorder causes red blood cells to become crescent shaped, which restricts the flow in blood vessels and limits oxygen delivery to the body’s tissues leading to seve…
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Targeting a Common Pathway in Genetic Forms of Obesity
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At the end of November, the U.S. Food and Drug Administration approved Rhythm Pharmaceuticals Imcivree, the first therapy for chronic weight management in patients with certain genetic forms of obesity. The approval validates Rhythm’s approach to target a specific biological pathway common to a number of these conditions. We spoke David Meeker, CEO…
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After Pruning Orchard, Gaspar Focuses on High Value Opportunities
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Orchard Therapeutics founder and former chief scientific officer Bobby Gaspar took the helm of the gene therapy company in March to replace CEO Mark Rothera when he stepped down. Since taking over, Gaspar has led a restructuring of the company and narrowed the focus to prioritize what it saw as high-value programs including its gene therapy for met…
Tessera Therapeutics is seeking to move beyond gene editing and gene therapy to what it calls “gene writing.” The company said its technology can be used to change base pairs, make small insertions or deletions, and integrate entire genes into the genome. We spoke to Geoffrey von Maltzahn, co-founder and CEO of Tessera, about the company’s gene wri…
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How an Ultra-Rare Disease Patient Organization Drove Research to a Treatment
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In November, the U.S Food and Drug Administration approved Eiger Biopharmaceutical’s Zokinvy, the first therapy to treat the ultra-rare disorder progeria, a genetic disease that causes premature aging. The approval of Zokinvy, which began life as a potential cancer therapy known as lonafarnib, shows the essential role patient organization can play …
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With a New Identity, Travere Thearpeutics Seeks to Find Its True Path
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The rare disease drug developer Retrophin has been through a number of changes in recent years including a new CEO, a late-stage failure of a key program, and the resolution of dueling lawsuits between it and its former CEO and convicted fraudster Martin Shkreli. Now with data from its lead experimental therapy sparsentan expected next year in two …
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Making Gene Therapies Accessible to Patient with Ultra-Rare Conditions
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While gene therapies provide great promise for people with rare, genetic diseases, the pursuit of these one-time treatments may not seem economically viable to commercial developers. In the case of ultra-rare conditions, the patient populations may be so small that it may not be possible for companies to recoup their investments, let alone make a p…
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Using RNA Therapies to Target Inherited Retinal Diseases
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Daniel de Boer became a biotech executive after his son was diagnosed with the genetic respiratory disease cystic fibrosis. He founded ProQR Therapeutics with an initial focus on developing RNA therapies to treat cystic fibrosis, but the company has since turned its attention to a group of rare, inherited retinal diseases that cause blindness. We s…
The economics of developing gene therapies can make it unattractive for biopharmaceutical companies to invest in bringing a gene therapy through development and to the market for ultra-rare conditions. But researchers at the National Center for Advancing Translational Sciences are working to develop a set of gene therapy vectors that can be used in…
Though there are only a handful of gene therapies on the market today, there is a robust and growing pipeline of these transformative medicines advancing toward market. In this third part of our gene therapy series we spoke to Janet Lambert, CEO of the Alliance for Regenerative Medicine, about the state of the gene therapy industry, the challenges …
Shortly after birth, Kim Nye’s first daughter Tessa began suffering seizures. Though Nye gave birth to other children without significant health issues, when her fourth child Colton was born, he had the same symptoms as his oldest sister. The two siblings were eventually diagnosed with an ultra-rare genetic disorder and Nye began the TESS Research …
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Part 1-Gene Therapy: A Genetic Counselor’s Perspective
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Genetic counselors play a unique role in the medical life of a person with a rare disease. They can serve as guide, translator, and trusted advisor. In this first part of our four part series on gene therapies, we spoke to genetic counselor Stephanie Gandomi, a Global Genes advocacy resource, about gene therapies, the role genetic counselors play i…
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An App to Make Patients the Experts in their Own Conditions
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Nell Meosky Luo remembers the way her mother use to keep extensive journals documenting the symptoms and treatments of her brother, who has a rare immune disorder. It served as inspiration for Folia Health, which has developed a platform that allows patients and caregivers to maintain health records, manage their conditions, and communicate with th…
Kezar Life Sciences is developing therapies for immune-mediated disorders and cancer. It’s lead experimental therapy is in development for the rare autoimmune condition lupus nephritis. It is a first-in-class therapy that targets master regulators of cellular function. We spoke to Noreen Henig, chief medical officer for Kezar, about lupus nephritis…
In 2006, at the age of 29, Ben Munoz suffered a stroke from a rare condition known as arteriovenous malformation. One of the things that were critical in his treatment and recovery was the connection he was able to make with another person who had the same condition and had experienced what Munoz was going through. Munoz co-founded the nonprofit Be…
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Industrializing Individual Therapies for People with Rare Conditions
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It began as a Facebook post for someone looking for help getting a child with a rare neurological condition whole genome sequencing. It resulted, though, in groundbreaking work by Timothy Yu, a neurologist and attending physician in the Division of Genetics and Genomics at Boston Children’s Hospital to develop a custom antisense oligonucleotide the…
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Rare Disease Advocate Turned Filmmaker Turns Lens on his Son
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Clinton Moore was a reluctant rare disease advocate. It took several years for him to become engaged in the rare disease community after his son Chandler was diagnosed with cystinosis, a rare, genetic, metabolic disease. Moore, who today is president of the Cystinosis Research Network, can add filmmaker to his credits. Moore tells his son’s story i…
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Inhibiting Signaling that Drives Growth of Rare Malformations
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Venous and lymphatic malformations are types of congenital vascular anomalies that are present at birth. These malformations can cause a number of complications including pain, bleeding, and impairment of the affected area. Current treatments options are limited and there are no drugs approved for these conditions. Venthera, a BridgeBio affiliate, …
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Readying a Rare Disease Community for the Availability of Treatments
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Niemann-Pick disease is a rare and often-fatal genetic, metabolic disorder with no approved treatments, but that could soon change as new therapies advance through the development and approval process. In anticipation of the first therapies for the disorder becoming available, the National Niemann-Pick Disease Foundation has been working to prepare…
Cara O’Neill was a practicing pediatrician, but after her daughter was diagnosed at age 3 with Sanfilippo syndrome, she turned her attention to driving research into the rare lysosomal storage disorder. Today, O’Neill serves as the chief science officer of Cure Sanfilippo Foundation, an organization she and her husband founded. It has since funded …
Chiasma is developing oral formulations of injectable drugs using its proprietary drug development technology. This allows therapies that would normally break down in the stomach to reach the small intestine, where they can be absorbed. At the end of June, the company won approval for Mycapssa, the first and only oral therapy to treat acromegaly, a…
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What Young Adults with Rare Conditions Need to Know About Health Insurance
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The world of health insurance can appear complex and confusing. For young adults with rare and chronic conditions, navigating their coverage options for the first time may also require them to consider access to specific physicians, services, and therapies. We spoke to Colleen Huysman, a clinical social worker with the Bridges Adult Transition Prog…
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Mirum Prepares to Seek Approval for Rare Liver Disease Therapy
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Payer Perceptions of Fairness in Pricing Rare Disease Therapies
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The debate over pricing of therapies often centers on the question of value and how to best determine it. The consulting firm Charles River Associates took an interesting approach to understanding the way payers view the pricing of rare therapies. Instead of asking them about pricing in terms of value, they asked about it in terms of fairness. We s…
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Improving Narcolepsy Therapy with Drug Delivery Technology
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Narcolepsy is a rare neurological sleep disorder with limited treatment options. Avadel is working on a controlled-release formulation of the standard of care, sodium oxybate, that allows for a once nightly dose of the drug. We spoke to Greg Divis, CEO of Avadel, about the company’s experimental therapy for narcolepsy, how it improves on the existi…
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Fighting the Persistent Cough in a Rare and Deadly Lung Disease
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Idiopathic pulmonary fibrosis is a family of lung diseases characterized by scarring and thickening of lung tissue leading to an irreversible loss of lung function and reduced life expectancy. In normal times, the dry and persistent cough the condition can cause, can have a big impact on a person’s quality of life, but in the midst of a pandemic wh…
Ionis Pharmaceuticals has been a pioneer of antisense therapies, which target RNA to either disrupt production of a disease-causing protein or upregulate needed proteins in people who are deficient. The company is in late stage development of a promising therapy to treat Huntington’s disease, a rare and fatal neurodegenerative condition. But the co…
Short Bowel Syndrome is a life-threatening rare disease caused by a significant shortening of the gastrointestinal tract. Because of difficulties people with short bowel syndrome have properly absorbing nutrients they rely on receiving them through intravenous infusions. This has an impact on the quality of life of people with the condition and com…
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Treating Huntington's Disease by Addressing Neuroinflammation
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Huntington’s disease is a rare and fatal neurodegenerative condition that is without any disease-modifying therapies today. Vaccinex is developing an experimental therapy designed to treat Huntington’s disease by addressing neuroinflammation, a hallmark of the condition that it shares with other neurodegenerative diseases. We spoke to Maurice Zaude…
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How Patient Advocate-Led Research Can Alter a Rare Disease Landscape
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When Sandra Bedrosian Sermone grew frustrated by the slow pace of a drug developer working to advance a potential therapy for ANDP, a rare condition her son has, she and another parent of a child with neurodevelopmental disorder began to search for a potential drug to repurpose. Their work suggested low doses of the powerful anesthetic ketamine cou…
When the COVID-19 pandemic hit, it disrupted all aspects of daily life. Many drug developers were forced to suspend clinical trials because of the challenges of brining participants into medical centers with the risk of infection and the strain on healthcare workers. Palvella Therapeutics, which is developing an experimental therapy for a rare skin…
Chris Austin calls himself an evangelist for collaboration when it comes to rare disease drug development. The director of the National Institutes of Health’s National Center for Advancing Translational Sciences said it is essential for rare disease advocates to look beyond their own diseases to recognize commonalities between their conditions and …
When Penny Howard’s daughter Harper died in 2016 from the rare neurodevelopmental condition CDKL5 deficiency disorder, Howard and her husband donated her brain and other tissue to research. The donation provided researchers with the first brain of someone who had CDKL5. Today, Harper’s cell lines live at the University of California, San Diego and …
AMO Pharma is developing drugs for a variety of rare neurologic conditions with a pipeline of experimental therapies seeking to treat Phelan-McDermid syndrome, congenital myotonic dystrophy, and Rett syndrome. The company believes it can advance therapies efficiently by acquiring molecules that have already been studied at either a preclinical or c…
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Targeting Epigenetics in Rare Proliferative Bone Marrow Cancers
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Imago BioSciences is developing therapeutics that change the behavior of malignant blood cells by targeting an enzyme that regulates gene transcription. LSD1 is an epigenetic enzyme that controls how genes are turned on and off in specific cells and plays a key role in the rare bone marrow cancer myelofibrosis. We spoke to Hugh Reinhoff, Jr., CEO o…
Earlier this year Chiesi Farmaceutici established Chiesi Global Rare Diseases, a new business unit to advance research and product development for rare and ultra-rare diseases. The unit, headquartered in Boston, has an initial focus on lysosomal storage, hematologic, and ophthalmologic disorders. We spoke to Giacomo Chiesi, head of Chiesi Global Ra…
Rafael Pharmaceuticals is focused on developing therapies that act on the metabolism of rare cancers. It designs drugs that attack regulatory processes that are unique to cancer cells and not found in healthy ones. Its lead drug candidate, devimistat, targets enzymes that are involved in cancer cell energy metabolism and found in the mitochondria o…
When Keith McArthur’s son Bryson was born, he was a happy and loving baby. Soon, though, Bryson began missing developmental milestones and doctors determined he had a neurological disorder. After nearly a decade, Bryson was diagnosed with a variant in his GRIN1 gene. Keith McArthur, who today is CEO and head of science for the CureGRIN Foundation, …
There are a number of rare disease where a genetic mutation results in the deficiency of an enzyme or other critical protein that can lead to a progressive or life-threatening condition. Patients have been treated with the chronic administration of recombinant versions of the proteins they lack. While this provides benefit, it requires regular infu…
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A One-to-Many Approach to Gene Therapy for Retinal Disease
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Gene therapies to treat retinal diseases promise to reverse blinding conditions, but the approach most gene developers take is to replace a mutated gene underlying a genetic disease with a functional version of that gene. The problem is that this approach can only address a narrow set of patients with each gene therapy. Ocugen, which Is developing …
WHIM syndrome is a rare, inherited, primary immunodeficiency disease caused by mutations to the CXCR4 receptor gene. Because of the role CXCR4 plays in the immune system, it is implicated in a number of rare diseases. X4 Pharmaceuticals, a company founded by rare disease pioneer Henri Termeer and other Genzyme alums, is developing a pipeline of CXC…
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Targeting the Regulatory Genome to Treat Rare Blood Diseases
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Syros Pharmaceuticals is developing a platform for targeting the regulatory genome with therapies to address diseases at a fundamental level. At the end of last year, the company entered into a collaboration with Global Blood Therapeutics to develop new therapies for sickle cell disease and beta thalassemia. Under the collaboration, Syros is using …
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A Reborn Forma Therapeutics Focuses on Rare Blood Diseases and Cancer
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Forma Therapeutics had long been a platform-based drug company that used high-throughput screening to discover new drugs that would be developed by partners. After many years, Forma began transitioning to become a fully integrated therapeutics company focused on rare blood disorders and cancer. It brought in Frank Lee, who had been a senior vice pr…
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Targeting Hormone Dysregulation in Prader-Willi Syndrome
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Prader-Willi syndrome is the most common genetic cause of life-threatening childhood obesity. It is a rare and complex condition that is characterized by unrelenting hunger, or hyperphagia, as well as intellectual disability, short stature, and incomplete sexual development. Millendo Therapeutics is developing livoletide, an experimental, first-in-…
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Targeting a Common Link in Otherwise Different Rare Diseases
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Crowdsourcing Therapeutic Approaches for an Ultra-Rare Disease
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저자 RARECast
