Rare Disease

Biotech By Matthew Herper

Acadia drug meets endpoints for treating Rett syndrome, a rare neurological disease

Health By Andrew Joseph

Sequencing whole genomes helps diagnose far more rare diseases, study shows

Biotech By Adam Feuerstein

Centessa drug shows early promise for inherited lung disease, but liver safety issue seen in small study

Politics By Nicholas Florko

Drug makers failed to block House provision cracking down on orphan drug tax credits

First Opinion Podcast By Patrick Skerrett

Listen: A father describes the legacy of his son’s ultra-rare disease

Biotech By Kate Sheridan

Startup Spotlight: Vigil Neuroscience hopes to eventually target the rare disease ALSP

First Opinion By Matthew Might

Scientific, moral imperatives underlie including rare disorders in the ARPA-H mandate

In the Lab By Megan Molteni

Scientists plumbing mysterious RNAs in the human genome find a possible treatment for an inherited disorder

Politics By Lev Facher

Billions in new research funding sparks a lobbying frenzy among patient advocates

Politics By Nicholas Florko

Congress presses the FDA to move faster on ALS drugs

First Opinion By Guadalupe Hayes-Mota

21 states give rare disease patients a seat at the table. The other 29 need to follow suit

Health By Eric Boodman

With fewer than 400 progeria patients worldwide, testing a CRISPR cure will be challenging

In the Lab By Megan Molteni

Landmark gene therapy trial points to a wider window to alter course of rare disease

Pharmalot By Ed Silverman

FDA extends shelf life for glaucoma drug discontinued by Pfizer, but patients remain concerned

First Opinion By Emil D. Kakkis

Aduhelm’s accelerated approval offers a promising roadmap for rare neurological diseases

Biotech By Megan Molteni and Nicholas St. Fleur

STAT+ Conversations: A conversation about in vivo gene editing to treat rare disease

Pharmalot By Ed Silverman

In an about-face, Health Canada allows a controversial rare disease drug back on the market

Health By Kevin Lin

Why two scientific powerhouses are teaming up to tackle rare cancers long overlooked in research

First Opinion By Anne E.P. Frosch, Aileen Ahiskali and Chandy C. John

Unaffordable treatment for severe malaria highlights U.S. drug market pitfalls

Health By Erika Check Hayden

The parents hoped an existing drug might keep their kids from having seizures. Then they saw the price

The Readout LOUD By Damian Garde, Meg Tirrell and Adam Feuerstein

Listen: Scott Gottlieb on Covid and grilling, plus how Zolgensma has changed SMA

Pharmalot By Ed Silverman

‘There’s so much uncertainty’: As Mallinckrodt sells rare disease drug, parents worry about access

Health By Andrew Joseph

Huntington’s community grieves not just one therapeutic setback, but two

Biotech By Adam Feuerstein

In restarted study, Solid Bio reports no serious toxicity in Duchenne patient given ‘safer’ gene therapy

Biotech By Adam Feuerstein

Most Read

Aduhelm backlash threatens to reverse progress in FDA’s reviews of rare and ultra-rare disease drugs

With a nudge from AI, ketamine emerges as a potential rare disease treatment

FDA should lead the way on new ALS treatments, not Canada and Europe

Millions of Americans carry the sickle cell trait, many without knowing it. Could they be at risk for severe Covid-19?

Should ‘broken’ genes be fixed? My daughter changed the way I think about that question

A new treatment promises to make little people taller. Is it an insult to ‘dwarf pride’?

‘A game-changer’: How Vertex delivered on cystic fibrosis

I have spinal muscular atrophy. Critics of the $2 million new gene therapy are missing the point

All Coverage

Acadia drug meets endpoints for treating Rett syndrome, a rare neurological disease

Sequencing whole genomes helps diagnose far more rare diseases, study shows

Centessa drug shows early promise for inherited lung disease, but liver safety issue seen in small study

Drug makers failed to block House provision cracking down on orphan drug tax credits

Listen: A father describes the legacy of his son’s ultra-rare disease

Startup Spotlight: Vigil Neuroscience hopes to eventually target the rare disease ALSP

Scientific, moral imperatives underlie including rare disorders in the ARPA-H mandate

Scientists plumbing mysterious RNAs in the human genome find a possible treatment for an inherited disorder

Billions in new research funding sparks a lobbying frenzy among patient advocates

Congress presses the FDA to move faster on ALS drugs

21 states give rare disease patients a seat at the table. The other 29 need to follow suit

With fewer than 400 progeria patients worldwide, testing a CRISPR cure will be challenging

Landmark gene therapy trial points to a wider window to alter course of rare disease

FDA extends shelf life for glaucoma drug discontinued by Pfizer, but patients remain concerned

Aduhelm’s accelerated approval offers a promising roadmap for rare neurological diseases

STAT+ Conversations: A conversation about in vivo gene editing to treat rare disease

In an about-face, Health Canada allows a controversial rare disease drug back on the market

Why two scientific powerhouses are teaming up to tackle rare cancers long overlooked in research

Unaffordable treatment for severe malaria highlights U.S. drug market pitfalls

The parents hoped an existing drug might keep their kids from having seizures. Then they saw the price

Listen: Scott Gottlieb on Covid and grilling, plus how Zolgensma has changed SMA

‘There’s so much uncertainty’: As Mallinckrodt sells rare disease drug, parents worry about access

Huntington’s community grieves not just one therapeutic setback, but two

In restarted study, Solid Bio reports no serious toxicity in Duchenne patient given ‘safer’ gene therapy

Sarepta wins new drug approval for patients with Duchenne muscular dystrophy, its third marketed treatment