RARECast

Families of children with the ultra-rare mitochondrial disorder pyruvate dehydrogenase complex deficiency, or PDCD, are fighting to get the U.S. Food and Drug Administration to provide a path...

Rett syndrome is a rare neurodevelopmental disorder that disrupts a child’s ability to purposely use their hands, communicate, and move around. It creates a lifelong caregiving burden for fam...

Rare diseases are often thought about in terms of the financial burden they create, but a new paper from the World Economic Forum urges policymakers, payers, and business leaders to see them ...

A single genetic diagnosis can ripple through generations and reshape medical care for an entire family. Cascade genetic testing, the offering of targeted genetic testing to biological relati...

Autoimmune diseases like myasthenia gravis have long forced patients to trade daily function for chronic immunosuppression, but Cartesian Therapeutics is betting that its experimental RNA‑eng...

Drug development has long been a costly, trial-and-error effort, with nine out of ten clinical programs failing despite major scientific advances. One reason is that biological information re...

Shimon Sakaguchi shared the 2025 Nobel Prize in Physiology or Medicine for his identification of regulatory T cells that suppress autoimmune responses. His work laid the foundation for RegCel...

When a toddler with a neurodevelopmental delay, poor muscle tone, and no hair came to Caleb Bupp’s genetics clinic, it led not only to the discovery of a new, ultra-rare disease, but the iden...

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 literatur...

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 o...

​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 Kingdo...

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 b...

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 functi...

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...

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 conditio...

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-mediate...

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 ...

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...

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 o...

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 p...

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 f...

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, companie...

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 ...

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 cond...

Achondroplasia is the most common form of dwarfism. Beyond short stature, people living with achondroplasia can experience serious health complications, including compression of the brai...

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 ...

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 imm...

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 hematolo...

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...

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 tre...

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 genet...

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, parti...

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 ...

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 h...

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 gen...

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...

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...

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...

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...

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...

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 t...

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 ...

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 meas...

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 trea...

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 add...

Drug development activities focused on the rare, neuromuscular condition Duchenne muscular dystrophy have translated into functional improvements and an extension of life expectancy. Regenxbi...

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-fa...

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-ye...

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 tha...

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 cond...