RARECast

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...

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...

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...

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 ve...

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 di...

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...

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 a...

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 disease...

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 neuro...

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 compa...

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 The...