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rare disease

News on rare diseases, including the development of new treatments, the challenges of diagnosis and treatment and the stories of patients and their families. The page features in-depth reporting on genetic diseases, immunodeficiencies, metabolic disorders and more.

Most Read

Pharmalot Ed Silverman

STAT Plus: Brazilian government advisory committee says a Vertex cystic fibrosis drug is not cost-effective and should not be reimbursed

Health Andrew Joseph

STAT Plus: A devastating skin condition could soon get its first medication, as the frontiers of gene therapy expand

Biotech Jonathan Saltzman — Boston Globe

STAT Plus: A young boy’s nightmare diagnosis, and the $3 million one-time treatment that will likely save his life

Health Joyce Cohen

A quest to explain the whooshing in her head

Health Joyce Cohen

When even soft noises feel like a knife to the eardrums

Medical Mystery Allison Bond

‘I had trouble getting enough air in’: When a cough is not just a cough

Exclusive Damian Garde

Lavishly funded Moderna hits safety problems in bold bid to revolutionize medicine

First Opinion Judy Stecker

My son’s time is running out due to a rare disease. The FDA needs to add more clinical trial flexibility

All Coverage

In the Lab Jason Mast

STAT Plus: Researchers devise new strategies to overcome a key CRISPR flaw

Biotech Jason Mast

STAT Plus: Top FDA official: Agency needs to start using accelerated approval for gene therapies

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First Opinion Bruce Bloom

2022 was a breakthrough year for understanding rare diseases. 2023 needs to be better

Biotech Jonathan Saltzman — Boston Globe

STAT Plus: Gene therapy can transform life for people with hemophilia. But some patients don’t want it.

First Opinion Emil D. Kakkis

STAT Plus: As it turns 40, the Orphan Drug Act for rare diseases needs a refresh

In the Lab Megan Molteni

In a first, children with rare genetic diseases get mitochondrial transplants from their mothers

Biotech Matthew Herper and Jason Mast

STAT Plus: Amgen’s $27.8 billion Horizon merger is latest industry bet on pricey rare disease drugs

Health Ambar Castillo

STAT Plus: ‘All the tech in the world doesn’t solve this’: Rare disease experts push biopharma on equity

In the Lab Megan Molteni

On the long road to treating Huntington’s genetic stutter, scientists return to overlooked clues

Biotech Ryan Cross — The Boston Globe

STAT Plus: Muscular dystrophy patient who was first in line for a custom CRISPR therapy dies

Politics Ambar Castillo

STAT Plus: House Democrat presses bill to encourage more diversity in clinical trials run by NIH

Health Matthew Herper

At a fashion show for people with spinal muscular atrophy, models take back their own stories

First Opinion Karen Quandt

The FDA needs to be more flexible in assessing treatments for rare diseases, like the one that seemed to help my son

Biotech Matthew Herper

STAT Plus: Blueprint Medicines drug reduces mastocytosis symptoms in a new study, meeting investor expectations

Exclusive Ed Silverman

STAT Plus: Novartis reports two children died from acute liver failure after treatment with Zolgensma gene therapy

A STAT Investigation Allison DeAngelis, Adam Feuerstein and Jason Mast

STAT Plus: At pioneering center for gene therapy, Jim Wilson presided over toxic, abusive workplace, staffers say

First Opinion Irene Shapiro

The Morris ALS Principles: A model for empowering all disease communities

Pharmalot Ed Silverman

STAT Plus: ‘No magic bullet’: For drugmakers and the FDA, clinical trials on ultra-rare diseases pose thorny challenges

First Opinion Craig Martin

There’s no ‘Moonshot’ or ‘Warp Speed’ for rare diseases. There should be

Biotech Damian Garde

STAT Plus: FDA advisers endorse Bluebird gene therapy for rare blood disorder

Biotech Damian Garde

STAT Plus: FDA advisers unanimously endorse Bluebird’s gene therapy for rare disorder

First Opinion Darcy Krueger and Emanual Maverakis

The Access to Rare Indications Act could be a game changer for millions of Americans

In the Lab Andrew Joseph

Child’s autopsy from 2008 becomes a clue to mystifying polio-like illness

First Opinion Brian Wallach and Mike Braun

Take a stand for those who can’t with the Promising Pathway Act

First Opinion Walter G. Johnson and Diana M. Bowman

It’s time for Congress to stop blocking mitochondrial replacement therapy