RARECast

For people with ultra-rare genetic diseases, a diagnosis can come with a devastating realization that there may be no treatment in development because the patient population is too small to attract traditional biopharma...

Genetic medicine has already begun to transform the treatment of some inherited diseases, but the brain remains one of its most formidable frontiers. For disorders such as Huntington’s disease and ALS, scientists may...

Kleefstra syndrome is a rare neurodevelopmental condition with significant unmet medical needs, but a growing understanding of its underlying biology is creating new opportunities for therapeutic development. Eric...

Congenital hyperinsulinism can turn a newborn’s first days into a medical emergency. The body produces too much insulin, blood sugar can fall to dangerous levels, and every delay in diagnosis or lapse in control can put...

Guillain-Barré syndrome is a rare, rapidly progressive autoimmune disorder in which harmful inflammation attacks peripheral nerves, potentially causing acute paralysis, respiratory failure, and lasting disability...

People with the rare genetic condition Gorlin syndrome can develop dozens or even hundreds of basal cell carcinomas over their lifetimes, often requiring repeated surgeries that carry physical, emotional, and financial...

Sickle cell disease is caused by a single mutation in the beta-globin gene that leads to painful crises, anemia, and organ damage. Despite advances in treatment, it remains a devastating and often overlooked global...

Many older adults may dismiss dropping objects, struggling with stairs, or tiring on short walks as a matter of just getting older, but it can be an early sign of a serious group of disorders known as late-onset...

Chiesi Global Rare Diseases has rapidly evolved from a small, regional rare‑disease business into a global organization, leveraging strategic deals and development bets to reshape standards of care for patients...

When Tom Sayiner was diagnosed with the fatal neurodegenerative disease ALS, he and his wife, Tamara, learned that tofersen had been approved in Europe as a therapy that could slow the progression of his genetic form of...

People with rare, severe autoimmune diseases often live for years with progressive, disabling conditions managed by chronic immunosuppression that rarely addresses the underlying cause. Kyverna is developing an...

The case of baby KJ Muldoon, an infant born with a lethal genetic metabolic disorder, demonstrates the potential to compress years of therapeutic development into months using an in vivo base editing approach. Jeff...

Families seeking a diagnosis for a rare disease often face a protracted diagnostic odyssey that can include ER visits, specialist referrals, and dead ends, even at world-class medical centers. Parents bounce from doctor...

Erythropoietic protoporphyria (EPP) is a rare, inherited metabolic disorder that triggers a toxic photochemical reaction in skin when exposed to light. A short time in the sun for someone with the condition can result...

Friedreich’s ataxia is a progressive, multisystem disease that robs people of coordination, independence, and often life itself. Until recently, there had been no approved therapies. In Friedreich’s ataxia, a genetic...