RARECast

Rare disease advocates have long made the case that studying rare diseases can provide insights into more common ones. Actio Biosciences has turned that into a business model. The company is leveraging genetics and precision medicine to develop drugs for rare diseases in the hopes of expanding the indications for them to include more common disease that share underlying biology. We spoke to David Goldstein, founder and CEO...

When people with a rare disease accomplish a lot, someone might say they did so “despite their condition.” In the case of Khartik Uppalapati, it might be more appropriate to say “because of his conditions.” Uppalapati, a 16-year-old Virginia high school student, is a co-founder of the RareGen Youth Network, an organization designed to give voice to young people affected by rare diseases. He’s also an entrepreneur, scientif...

One of the challenges for developing gene therapies for inherited eye diseases is that a large number of individual mutations to a gene can drive the same disease. That makes conventional gene replacement therapy a difficult approach to treat a large number of patients. Ocugen is developing gene therapies that target master regulators of genetic networks and can work across different mutations. We spoke to Arun Upadhyay, c...

Tepezza became an instant blockbuster when it hit the market as the first targeted therapy for thyroid eye disease, a rare autoimmune condition that causes eyes to bulge, vision problems, and can lead to long-term damage to the eyes. The success of Tepezza drove Amgen’s $27.8 billion acquisition of Horizon Therapeutics, announced at the end of 2022. Now, Viridian Therapeutics is developing veligrotug, a potential chal...

When Ben Davies was born, he had difficulty breathing. He also suffered from recurrent infections. It took five years of being in and out of hospitals, and the persistence of his mother Traci Davies, who brought him to different doctors, before a physician diagnosed him with primary immunodeficiency. The rare condition leaves people with weakened immune systems. Years later, Traci herself would discover that she too suffer...

When Melanie Kandzierski took on the role of being mother to her granddaughter Rosie, she didn’t know how it would change her world. Rosie began experiencing seizures and she would eventually be diagnosed with a Dravet syndrome, a rare form of epilepsy that not only causes seizures, but developmental delays, motor issues, and behavioral challenges. Kadzierski discusses how she has learned to care for a child with Dravet sy...

One of the challenges of delivering gene therapies to the eye is that once a subretinal injection is made, the therapy’s distribution is confined to the margins of the pocket of fluid that is created, known as a bleb. Atsena, which is developing gene therapies for X-linked retinoschisis and Leber congenital amaurosis 1, uses its AAV.SPR technology that allows the gene therapy to spread laterally after injection. We spoke t...

In a medical first, a team at Children’s Hospital of Philadelphia and Penn Medicine has successfully treated an infant diagnosed with a rare genetic disorder by using a customized CRISPR gene editing therapy. The work, led by Penn Medicine’s Kiran Musunuru and CHOP’s Rebecca Ahrens-Nicklas, points to the potential to use bespoke gene editing therapies to treat others with rare genetic diseases for which no available m...

The Children’s Tumor Foundation has been effective in working with drug developers to advance new therapies for neurofibromatosis, a group of rare, genetic conditions that cause tumors to grow on nerves throughout the body. Part of its success has been its ability to get biopharmaceutical companies to reposition assets once in development for other conditions as potential treatments for neurofibromatosis. We spoke to ...

Epicrispr Biotechnologies is using CRISPR to modulate the expression of disease-causing genes without making cuts to DNA. Its lead program is in development to treat FSHD, a genetic disorder that causes progressive weakness in the muscles of the face, shoulders, and upper arms. We spoke to Amber Salzman, CEO of Epicrispr, about how its one-and-done therapies work to target the epigenome, the company’s lead program in FSHD,...

One of the hallmarks of the rare genetic disorder Prader-Willi syndrome is hyperphagia, an insatiable desire to eat. Households with someone with Prader-Willi syndrome often have to take measures to restrict access to food, such as locking refrigerators, pantries, and trash cans. They must also deal with the complex behavioral challenges associated with the condition. Earlier this year, Soleno Therapeutics won approval for...

CTX is a rare metabolic disease that can cause seizures, developmental delays, and intellectual disability. Now, a diagnostic test that can detect the condition early is available, and a treatment that can prevent the disease's serious effects has won regulatory approval. We spoke to Bart Duell, professor of medicine at Oregon Health Sciences University, about CTX, the role OHSU played in developing a diagnostic and advanc...

Biliary tract cancers are a group of rare cancers with limited treatment options and generally poor outcomes because most patients are diagnosed at an advanced stage. There are efforts to address that through the development of early detection tools. And the use of biomarker testing can today match as many as half of these patients to a targeted therapy, although it’s critical to make people aware of the importance of this...

Drug development activities focused on the rare, neuromuscular condition Duchenne muscular dystrophy have translated into functional improvements and an extension of life expectancy. Regenxbio is among several companies pursuing a gene therapy to treat Duchenne. Regenxbio believes both its microdystrophin—a truncated form of the dystrophin gene­ small enough to fit in a vector­—and the vector it is using, give it a competi...

GRIN-related disorders are a group of rare neurodevelopmental conditions that can cause intellectual disability, behavioral challenges, and seizures. GRIN Therapeutics is developing a once-failed development candidate for chronic neuropathic pain, known as radiprodil, as a potential treatment for GRIN-related disorders driven by gain-of-function mutations. We spoke to Bruce Leuchter, president and CEO of GRIN Therapeutics,...

Osteosarcoma is a rare and aggressive bone cancer that usually affects children and teenagers. Over the past 40 years, there’s been little progress to improve survival rates, with the five-year survival rate stagnant at about 60 to 70 percent for localized disease and 15 to 30 percent for metastatic osteosarcoma. OS Therapies is developing an experimental immunotherapy to treat certain osteosarcomas. We spoke to Paul ...

When Paul Biderman was born, he had trouble gaining weight. He grew sicker and, at about six months, he was diagnosed with the ultra-rare genetic disease abetalipoproteinemia, a condition that impairs a person’s ability to absorb fats and fat-soluble vitamins. The condition requires adherence to a strict diet and a regimen of daily vitamin supplementation, which he didn’t always follow. Now approaching 60, Biderman suffers...

Spinocerebellar ataxia includes a group of rare, genetic, neurodegenerative disorders. People with the condition suffer from the loss of balance, coordination, and muscle control. As the condition progresses, people can lose the ability to walk and speak. There is no approved treatment for SCA, but Biohaven has applied to the U.S. Food and Drug Administration to begin marketing its experimental therapy troriluzole, which c...

Netherton syndrome is a rare and chronic skin condition. One in ten infants with the disease will die as a result of infections and related complications. Azitra has developed a platform for engineering bacteria that naturally colonize the skin to produce proteins with therapeutic benefits to treat Netherton syndrome and other conditions. We spoke to Travis Whitfill, co-founder and chief operating officer of Azitra, about ...