All articles tagged with #rare diseases
Originally Published 2 days ago — by Fierce Biotech
Menlo Ventures has invested $16 million in Aurora Therapeutics, co-founded by CRISPR pioneer Jennifer Doudna and Fyodor Urnov, to develop personalized CRISPR therapies targeting rare diseases like PKU, leveraging recent regulatory and technological advances to make treatments for ultra-rare conditions more feasible.
Originally Published 23 days ago — by BioMarin Pharmaceutical
BioMarin is acquiring Amicus Therapeutics for $4.8 billion to expand its portfolio in rare disease treatments, including marketed products Galafold and Pombiliti + Opfolda, which generated $599 million in revenue over the past four quarters. The deal aims to accelerate revenue growth, diversify BioMarin's product offerings, and create shareholder value, with the transaction expected to close in Q2 2026 and be immediately accretive to earnings.
Originally Published 25 days ago — by Gizmodo
The article reviews some of the strangest medical cases of 2025, including a cholesterol-leaking man from a carnivore diet, a rabies transmission via organ transplant, a brain-eating amoeba infection, accidental THC-laced pizza, and a rare death linked to red meat allergy, highlighting the bizarre and sometimes dangerous surprises in modern medicine.
Originally Published 26 days ago — by U.S. Department of Health and Human Services (HHS) (.gov)
U.S. Secretary of Health and Human Services has approved adding Duchenne Muscular Dystrophy and Metachromatic Leukodystrophy to the newborn screening panel, enabling earlier diagnosis and treatment to improve outcomes for affected children.
Originally Published 28 days ago — by CBS News
A mother was overjoyed to learn a drug could save her baby's life, but the $2 million cost of the treatment highlights the high prices of new gene therapies, raising concerns about affordability and the impact on the healthcare system.
Originally Published 2 months ago — by Reuters
Novartis is acquiring Avidity Biosciences for about $12 billion to expand its portfolio in rare muscle disorders and strengthen its US presence, with Avidity's early-stage cardiology programs to be spun off into a new company, Spinco.
Originally Published 3 months ago — by The New York Times
Gene therapies for rare diseases often get developed but are abandoned due to high costs, leaving some patients like Tracy Atteberry with potential cures that are no longer available, highlighting economic barriers in medical innovation.
Originally Published 3 months ago — by fda.gov
The FDA has granted accelerated approval to Forzinity (elamipretide) as the first treatment for Barth syndrome, a rare and serious mitochondrial disease, based on improvements in muscle strength that are likely to benefit patients, with further studies required to confirm these benefits.
Originally Published 4 months ago — by Inquirer.com
A rare genetic disorder called complement factor I deficiency, which is more common in the Amish community due to the founder effect, was identified as the cause of brain inflammation in an Amish girl at CHOP, leading to better diagnosis and treatment for similar cases in the community.
Originally Published 4 months ago — by BBC
Charlotte Chapman-Hart, a woman with a rare neurological condition, was misdiagnosed with an eating disorder after rapid weight loss caused by medication side effects, leading to traumatic hospital experiences and PTSD. Her story highlights the importance of accurate diagnosis and attentive healthcare for rare diseases.
Originally Published 4 months ago — by The Times
A groundbreaking gene therapy developed by UCL and GOSH has transformed the life of 19-year-old Remi Pereszczak, who suffered from a rare genetic condition called CGD. The therapy, which involves reprogramming his own stem cells, has enabled him to live a healthier, more normal life and attend university. GOSH's new capacity to produce personalized gene therapies in-house promises to accelerate treatment for rare diseases and has broader implications for medicine, including potential cancer cures.
Originally Published 5 months ago — by The Economist
The FDA is currently facing turmoil after approving Sarepta Therapeutics' gene therapy for Duchenne muscular dystrophy in 2023, which was later linked to three patient deaths from liver failure, leading to a suspension request and a sharp decline in Sarepta's stock value.
Originally Published 5 months ago — by BuzzFeed
The article lists 21 Wikipedia pages related to body horror, covering topics like rare diseases, unethical experiments, and bizarre medical conditions, highlighting the dark and often disturbing aspects of medical history and science.
Originally Published 5 months ago — by Sarepta Therapeutics
Sarepta Therapeutics announced a strategic restructuring to focus on high-impact programs, including a workforce reduction and cost savings of approximately $400 million annually, while updating on ELEVIDYS' label and safety measures. The company aims for long-term growth by prioritizing its siRNA platform and maintaining its Duchenne muscular dystrophy portfolio, with key executive appointments and financial highlights for Q2 2025.
Originally Published 6 months ago — by CBS News
A new drug, Vykat XR, has been approved to help manage hyperphagia in Prader-Willi syndrome, offering hope for improved quality of life, but broader obesity research faces challenges due to federal funding cuts, potentially hindering progress in understanding and treating various obesity causes.