RARECast

Amber Freed transformed the shock of her son’s diagnosis with an ultra-rare neurodevelopmental disorder into a determined campaign for gene therapy. With no clinical roadmap, sparse literature, and doctors offering only symptomatic care, she taught herself biology basics, established a nonprofit, and assembled a scientific team. She focused on gene replacement therapy as the most viable path, and...

Tuberous sclerosis complex is a rare genetic condition caused by changes in the TSC1 or TSC2 gene that over-activate a key growth-control pathway, known as mTOR. This leads to seizures that often don’t respond to existing medicines and to noncancerous tumors in organs such as the brain, kidneys, lungs, and skin. In fact, more than 65 percent of people with TSC-related epilepsy still have seizures...

​The Oxford-Harrington Rare Disease Centre represents a transatlantic alliance created to bridge academic research and drug development for rare diseases. Founded in 2019 by the United Kingdom’s University of Oxford and the Cleveland-based Harrington Discovery Institute, the center leverages Oxford's world-class rare disease research and Harrington's pharmaceutical-scale expertise to address trans...

Floyd Stewart was diagnosed with late-stage nasopharyngeal carcinoma, a rare, fast‑growing head and neck cancer that advanced quietly until it appeared as a bulge in his neck. The diagnosis became a struggle for his entire family as his treatments reshaped family life for Floyd, his wife Monique, and their four children. We spoke to the Stewarts about how they navigated the healthcare system, the...

There have been great advances in the treatment of cystic fibrosis, but nevertheless it remains a progressive, life‑shortening genetic disease as many patients still don’t reach normal function and continue to face infections, exacerbations, and impaired quality of life. Siona Therapeutics is building a new generation of small‑molecule therapies that directly stabilize the region most affected by...

As a college student, Megan Beaulieu first noticed her smile faltering and her arms growing weak, which she chalked up to stress and exhaustion. Within weeks, her symptoms had worsened to the point that she could no longer lift her hands to wash her hair—a progression that led to her diagnosis of myasthenia gravis, a rare autoimmune neuromuscular disease. Since then, she has taken to TikTok to sha...

Dermatomyositis is a rare multi-organ autoimmune condition that primarily affects the skin and muscles. It causes fatigue, muscle weakness, and painful skin rashes. Treatment for the condition has long centered on the use of chronic systemic steroids, which can carry long‑term toxicity. Priovant is developing brepocitinib, a dual TYK2/JAK1 inhibitor originally developed at Pfizer to treat the cond...

Veteran biotech investors Steven St. Peter and Luke Evnin launched Vie Ventures to bridge traditional venture capital with disease-focused philanthropy to target autoimmune and immune-mediated diseases. The fund partners with large patient organizations, such as the Lupus Research Alliance and Scleroderma Research Foundation, to invest in series B and C rounds in clinical-stage companies. We spoke...

When Nikki McIntosh’s son Miles was less than a year old, he was diagnosed with a form of the rare neuromuscular condition spinal muscular atrophy. Since then, she has needed to learn how to manage the complexities of her own life while managing Miles’ care, coordinating his providers; and navigating the medical, financial, and emotional aspects of raising a child with a rare disease. McIntosh has...

Spinocerebellar ataxia is a group of inherited, heterogeneous neurodegenerative diseases affecting coordination, speech, and vision. There are currently no FDA approved therapies for the more than 50 known types of SCA​, but there is a growing pipeline of therapeutic candidates. We spoke to Andrew Rosen, CEO of the National Ataxia Foundation, about the challenges of developing therapies for spinoc...

A recent report from the health research network and real-world data platform TriNetX argues that by aggregating electronic health records, billing claims, and registry data across hundreds of healthcare sites makes it possible to study rare diseases more efficiently. Doing so could enable access to enough patient data to conduct meaningful research, which is often impossible through traditional c...

Huntington’s disease is a rare, inherited neurodegenerative disorder caused by a type of genetic mutation known as a trinucleotide repeat expansion, which leads to the production of a toxic protein that causes progressive brain cell loss. Vico Therapeutics is developing an experimental antisense oligonucleotide to treat the condition. Because the therapy targets the repeat expansion itself, rather...

After Philippa Ward’s five-month-old son, Thomas, suffered infantile spasms, he was soon diagnosed with tuberous sclerosis complex—a rare genetic disorder that causes noncancerous tumors to form on various organs, including the brain. Thomas experiences near-daily seizures, cannot communicate verbally, and, due to delayed motor skills, often requires the use of a wheelchair. We spoke to Ward about...

Partnerships between biopharmaceutical companies and patient organizations can play a critical role in improving access and outcomes for people with rare diseases. However, to do so, companies must listen to patient communities and address the unique challenges they face. We spoke to Laura Russo, U.S. patient engagement lead for Pfizer, discusses how the company’s patient-facing teams work to...

Hunter syndrome is caused by the body’s inability to produce a critical enzyme needed to break down cellular waste. The condition can cause damage to organs throughout the body as well as to the brain. A new generation of therapies in development, including a gene therapy currently under review by the U.S. Food and Drug Administration, that has the potential to address the neurological symptoms of...

Developmental and epileptic encephalopathies are a group of rare disorders that are characterized by frequent seizures that often don’t respond to existing medications. These are complex conditions that involve progressive cognitive and behavioral manifestations that can pose significant burdens on patients and their families. In both clinical practice and within the biopharmaceutical industry, th...

Achondroplasia is the most common form of dwarfism. Beyond short stature, people living with achondroplasia can experience serious health complications, including compression of the brainstem and upper spinal cord due to impaired development of the skull. Tyra Biosciences is developing a next-generation medicine to precisely target FGFR3, an overactive growth factor that causes achondroplasia...

Recurrent high-grade glioblastoma is a rare and aggressive brain tumor, which today is generally treated with surgery and chemotherapy. Outcomes are poor, with survival ranging from three to nine months and five-year survival rates less than 10 percent. Candel Therapeutics is developing viral immunotherapies that both kill tumor cells directly and enlist the patient’s own immune system in the figh...

While there has been enormous innovation in the treatment of cancer over the past two decades, much of this has been focused on adult cancers. Despite the advent of targeted therapies and immunotherapies, the treatment of childhood cancers relies largely on chemotherapy and radiation, both of which can create lifelong side effects in developing bodies. And cancer remains the leading cause of death...

Avion was a healthy and athletic 15-year-old who became critically ill when he was admitted into a pediatric intensive care unit. For Robin Williams, assistant professor of pediatric hematology/oncology at the University of Minnesota Masonic Children's Hospital, Avion offered a medical puzzle she couldn’t crack on her own. His immune system was on overdrive and it was attacking healthy cells and o...

Recurrent respiratory papillomatosis is a potentially life-threatening disease of the upper and lower respiratory tract caused by chronic infection with human papillomavirus type 6 or type 11. In the absence of approved therapies, people with the condition often undergo repeated surgeries to clear their airways. The U.S. Food and Drug Administration in August approved Precigen’s Papzimeos, an immu...

Tris Dyson founded Challenge Works to incentivize innovators to solve societal problems. Dyson, who was diagnosed with amyotrophic lateral sclerosis, is now using the platform to find new treatments for the progressive neurodegenerative disease. The $10 million Challenge Works' Longitude Prize on ALS harnesses AI, open collaboration, and big data to find new treatments for the condition. We spoke...

When Daniel Fischer’s daughter Natasha was diagnosed with the rare genetic epilepsy, Dravet syndrome, his search for treatments eventually led him to tRNA therapies, an emerging area of genetic medicines that work to correct so-called nonsense mutations. Nonsense mutations prematurely cause the translation of a gene to stop before a protein is fully formed. What’s particularly compelling about the...

Prader-Willi syndrome is a rare and complex genetic condition, the hallmark of which is hyperphagia, an intense and insatiable hunger. Hunger and appetite, though, are different things, particularly from a biological perspective. Aardvark Therapeutics is developing an experimental therapy to treat Prader-Willi syndrome by targeting hunger as opposed to appetite. We spoke to Tien Lee, CEO of Aardva...

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...