Opinion: It’s time for Congress to stop blocking mitochondrial replacement therapy
Australia has become the second country in the world to explicitly authorize and regulate mitochondrial…
Category: rare disease
Opinion: Will the shadow of Aduhelm cloud FDA’s decision-making on an ALS therapy?
On March 30, an FDA advisory panel voted 6 to 4 against recommending approval of…
STAT+: A $2.1 million price tag for Bluebird Bio’s gene therapy is cost-effective, analysis finds
As the U.S. health care system braces for expensive gene therapies, a new analysis suggests…
Virtual Event: CRISPR Quest
Editor’s note: A livestream of the event will be embedded below at 1 p.m. ET…
Provocative new findings suggest a surprising cause of Down syndrome: cells linked to aging
Down syndrome is the most common genetic disorder, impacting about 1 in 700 newborns around…
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How medicine erased Black women from a ‘white man’s disease’
What Christi Taylor-Gentry remembers most about third grade are the times when the teaching stopped…
Sequencing whole genomes helps diagnose far more rare diseases, study shows
When the U.K.’s National Health Service started to use whole genome sequencing, doctors were able…
STAT+: Centessa drug shows early promise for inherited lung disease, but liver safety issue seen in small study
An experimental “corrector” drug from Centessa Pharmaceuticals normalized the levels of a target protein in…
STAT+: Drug makers failed to block House provision cracking down on orphan drug tax credits
WASHINGTON — Drug makers mounted a last-minute, and so far unsuccessful, campaign to kill a surprise…
Opinion: Aduhelm backlash threatens to reverse progress in FDA’s reviews of rare and ultra-rare disease drugs
The FDA’s approval of Aduhelm to treat Alzheimer’s disease has unleashed criticism about the decision…
Opinion: Listen: A father describes the legacy of his son’s ultra-rare disease
Bertrand Might was born with a rare disease that had never before been diagnosed, an…
STAT+: Startup Spotlight: Vigil Neuroscience hopes to eventually target the rare disease ALSP
Vigil Neuroscience has revealed the first condition that it will target: a rare, genetic neurodegenerative…
Opinion: Scientific, moral imperatives underlie the ARPA-H mandate to include rare disorders
The response to Covid-19 by the biomedical research community in the U.S. and around the…
Billions in new research funding sparks a lobbying frenzy among patient advocates
WASHINGTON — President Biden’s vision for an ambitious new government research center is never quite…
With a nudge from AI, ketamine emerges as a potential rare disease treatment
In the seven difficult years since their son Mateo was diagnosed with a rare disease,…
STAT+: Congress presses the FDA to move faster on ALS drugs
WASHINGTON — Lawmakers pressed a top Food and Drug Administration official Thursday for answers on…
Opinion: 21 states give rare disease patients a seat at the table. The other 29 need to follow suit
A powerful movement is taking shape in the U.S. rare disease community that could transform…
With fewer than 400 progeria patients worldwide, testing a CRISPR cure will be challenging
When Sammy Basso was diagnosed with progeria at 2, it seemed likely that the disease’s…
Landmark gene therapy trial points to a wider window to alter course of rare disease
The suspicion that something was wrong started when the 1-year-old girl’s parents noticed she had…
STAT+: FDA extends shelf life for glaucoma drug discontinued by Pfizer, but patients remain concerned
In a bid to calm anxious patients, the Food and Drug Administration has extended the…
Opinion: Aduhelm’s accelerated approval offers a promising roadmap for rare neurological diseases
The FDA’s decision to grant accelerated approval to Biogen’s aducanumab (Aduhelm) for the treatment of…
STAT+: STAT+ Conversations: A conversation about in vivo gene editing to treat rare disease
Editors note: A livestream of the conversation will be embedded below at 1 p.m. ET….
STAT+: In an about-face, Health Canada allows a controversial rare disease drug back on the market
In yet another twist in a complicated tale, Health Canada has reinstated approval of a…
Opinion: FDA should lead the way on new ALS treatments, not Canada and Europe
Following the Food and Drug Administration’s recent decision to give the green light to aducanumab,…
Why two scientific powerhouses are teaming up to tackle rare cancers long overlooked in research
As a medical school student, oncologist Vinod Ravi felt like he understood what it took…
Opinion: Unaffordable treatment for severe malaria highlights U.S. drug market pitfalls
When Eli Lilly announced in 2017 that it would stop producing quinidine, it was the…
STAT+: The parents hoped an existing drug might keep their kids from having seizures. Then they saw the price
When Amber Freed heard in 2020 that a drug might help save her young child…
Listen: Scott Gottlieb on Covid and grilling, plus how Zolgensma has changed SMA
What does “one-and-done” treatment actually mean? Do we really need a permanent FDA commissioner? And…
‘There’s so much uncertainty’: As Mallinckrodt sells rare disease drug, parents worry about access
As it looks to emerge from bankruptcy, Mallinckrodt (MNK) has sold an experimental medicine that…
Huntington’s community grieves not just one therapeutic setback, but two
For the community of people affected by Huntington’s disease — a group that is no…
STAT+: In restarted study, Solid Bio reports no serious toxicity in Duchenne patient given ‘safer’ gene therapy
Solid Biosciences said Monday that it has restarted a clinical trial involving its experimental gene…
Sarepta wins new drug approval for patients with Duchenne muscular dystrophy, its third marketed treatment
The Food and Drug Administration on Thursday approved a new medicine from Sarepta Therapeutics that…
Opinion: Ultra-rare but not forgotten: New drug development paradigms to treat the rarest of diseases
In addition to the most visible effects of Covid-19 — tragic deaths, lingering illness, economic…
Novartis and the Gates Foundation aim to create a more practical gene therapy for sickle cell patients around the world
Novartis and the Bill and Melinda Gates Foundation are joining forces to discover and develop…
STAT+: Moncef Slaoui, departing Warp Speed, raises $250 million to test his R&D philosophy in a new company
Moncef Slaoui, who headed the Operation Warp Speed vaccine-development effort under the Trump administration, is…
Opinion: The Biden administration needs to look beyond ICER for evaluating drug therapies
As breakthrough drugs stream out of biopharmaceutical laboratories, how much they should cost and who…
STAT+: In a stem cell experiment that seemingly failed, scientists see a possible way to prevent a devastating disease
The tiny mouse embryos were off to a promising start, many of them progressing from…
‘Frustrated and panicking’: For some rare disease patients, shortages of protective gear pose a continued threat
When the coronavirus sent cities across the United States into shutdown in March, Laura Bonnell…
STAT+: Ovid’s treatment for a rare, untreatable disease fails in a key trial
Ovid Therapeutics’ experimental drug for a devastating rare disease proved no better than placebo in…
STAT+: House passes a bill to close a loophole in a law that gives drug makers ‘unfair’ monopolies
Seeking to boost competition in the pharmaceutical industry, the House passed a bill that would…
Millions of Americans carry the sickle cell trait, many without knowing it. Could they be at risk for severe Covid-19?
Sickle cell disease, which causes Covid-like symptoms — clotting, strokes, and severe oxygen deprivation — …
Opinion: Using telehealth to revolutionize the speed of making rare disease diagnoses
For a person living with a rare disease, it can take five years or longer…
Wary hemophilia patients say they’re willing to wait longer for a safe gene therapy
The Food and Drug Administration’s rejection of a gene therapy for hemophilia A on Wednesday…
STAT Plus: Stunning FDA rejection signals potential new hurdles for gene therapies
The Food and Drug Administration’s unexpected rejection of a gene therapy for the bleeding disorder…
STAT Plus: A long-awaited report on orphan drugs in Europe suggests incentives to pharma need change
After being kept under wraps for a year, an expansive review of European regulations designed…
Gene-editing discovery could point the way toward a ‘holy grail’: cures for mitochondrial diseases
Biologist David Liu was in the middle of his morning commute to the Broad Institute…
Opinion: A pandemic, a funeral, and a chance to help heal the world
At the J.P. Morgan Healthcare Conference for biotech investors in San Francisco this January, I…
Opinion: I’ve been cared for by dozens of clinicians in nearly 20 years. I’m in awe of their work on Covid-19
To health care workers on the front lines: thank you. As a rare disease patient…
STAT Plus: FDA closes review of Novartis data integrity scandal without punishing the drug maker
An embarrassing scandal that Novartis (NVS) endured over data integrity has quietly come to a…
STAT Plus: To quell unpredictable allergic reactions, an experimental drug takes aim at a genetic cause, not symptoms
The last time Melanie Wardell was thrown into anaphylactic shock, an ad for Macy’s was…