#rare-disease

Researchers using patient-derived tissue and stem-cell models reported that RNA therapy reduced harmful protein aggregation in a form of inherited cardiomyopathy linked to the PLN R14del variant.

Encoded Therapeutics reported that an experimental gene therapy reduced seizures by 76% in children with Dravet syndrome, but the supplied source text indicates the result was observed in only three patients.

The FDA is rolling out a framework that could allow certain individualized gene therapies to reach patients with rare genetic disorders without human clinical trials, accelerating access while raising serious safety and信

Angelini Pharma has agreed to buy Catalyst Pharmaceuticals for $4.1 billion, a move that would add three FDA-approved rare-disease medicines to its neurology portfolio.

A study in Immunity points to malfunctioning natural killer cells, not macrophages alone, as a key driver of mevalonate kinase deficiency, opening a possible path toward JAK inhibitor treatment.

St. Jude researchers report that an antisense oligonucleotide therapy reversed key features of HNRNPH2-related neurodevelopmental disorder in preclinical models, offering mechanistic support for a move toward human study

A Nature Medicine feature describes how a trial built around one baby is becoming a practical example of patient-driven research moving from exception to model.

Research that began with cystinuria, a rare genetic disorder causing recurrent cystine stones, is being explored for broader therapeutic potential in kidney stone patients.

Researchers used tiny retinas grown in the lab to show how subtle changes in a growth-controlling protein may drive a rare condition that causes serious eye defects from birth.

Neurocrine Biosciences is buying Soleno Therapeutics for $2.9 billion, gaining an approved treatment for a rare disease associated with insatiable hunger.

An opinion essay on mitochondrial disease argues that medical nutrition is essential to keeping some patients healthy, yet insurers still often treat it as optional rather than medically necessary.

Tanabe Pharma says it has posted positive Phase 3 data for an oral drug targeting two rare disorders associated with pain on light exposure, marking a major clinical milestone after its Bain Capital acquisition.

A correspondence in Nature Medicine argues that bespoke pediatric gene therapies are arriving faster than the traditional drug model can handle, and calls for a new regulatory framework built for individualized medicines

Prime Medicine reverses course to seek FDA approval for a previously sidelined rare immune disease therapy, citing the agency's evolving stance on rare diseases.