In the Lab By Eric Boodman This family carried a rare mutation that should have been lethal. What was keeping them alive?
Health By Jared Whitlock A mother, shaped by tragedy, embarks on a mission to advance custom medicines
In the Lab By Megan Molteni Provocative new findings suggest a surprising cause of Down syndrome: cells linked to aging
Health By Usha Lee McFarling Millions of Americans carry the sickle cell trait, many without knowing it. Could they be at risk for severe Covid-19?
Health By Damian Garde A new treatment promises to make little people taller. Is it an insult to ‘dwarf pride’?
Health By Adam Feuerstein and Matthew Herper ‘A game-changer’: How Vertex delivered on cystic fibrosis
First Opinion By Brian Wallach and Mike Braun Take a stand for those who can’t with the Promising Pathway Act
First Opinion By Walter G. Johnson and Diana M. Bowman It’s time for Congress to stop blocking mitochondrial replacement therapy
First Opinion By Bernard Zipprich Will the shadow of Aduhelm cloud FDA’s decision-making on an ALS therapy?
Pharmalot By Ed Silverman A $2.1 million price tag for Bluebird Bio’s gene therapy is cost-effective, analysis finds
Health By Jonathan Wosen Researchers shatter the speed record for diagnosing rare genetic diseases with DNA sequencing
In the Lab By Megan Molteni Last-gasp gene therapy saved a Syrian refugee’s life. Five years later, the boy is thriving and a clinical trial is starting
Biotech By Matthew Herper Acadia drug meets endpoints for treating Rett syndrome, a rare neurological disease
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 By Emily Milligan and Katherine R. McCurdy Aduhelm backlash threatens to reverse progress in FDA’s reviews of rare and ultra-rare disease drugs
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
Health Tech By Katie Palmer With a nudge from AI, ketamine emerges as a potential rare disease treatment
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