RARECast

Glioblastoma is an aggressive and rare brain cancer. Though it is typically treated with surgery, radiation, and chemotherapy, the prognosis for patients is grim with only 10 percent of surviving at least five years. Plus Therapeutics is developing a pipeline of radiotherapies that are encapsulated in nanoliposomes. Through novel deliver and formulation of these therapies, the company believes it...

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 through a common platform. We spoke to Nicole Boice,...

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 severe pain and organ damage. At the end of 2019, Glob...

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 of Rhythm, about genetic obesities, the company’s...

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 metachromatic leukodystrophy, a rare and life-threate...

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 writing technology, how it works, and the potential f...

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 in driving research and bringing together collabor...

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 different rare kidney diseases, the company has ch...

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 profit. The nonprofit Columbus Children’s Foundatio...

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 spoke to de Boer, CEO of ProQR, about the evolution...

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 multiple indications and eliminate the time and c...

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 developers face in advancing therapies to the mark...

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 Foundation. The organization has been pursuing a g...

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 in working with rare disease patients, and the cons...

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 their physicians. We spoke to Luo, founder and CEO o...

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, the company first-in-class candidate to target t...

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 Ben’s Friends, which operates an expanding set of pa...

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 therapy for the little girl, who had a rare form of t...

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 in a full-length documentary Walk in My Shoes. The...

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, is developing a topical gel for the treatment of v...

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 patients and their families for new obstacles the...

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 $6.5 million in research through more than 20 scie...

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 rare condition in which the overproduction of gro...

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 Program at Boston Children’s Hospital, and Sneha Dave...