Rare Diseases News Monitoring

Two more rare diseases added to heel prick test

Published: Wed 15 Apr 2026, 10:46 AM Babies born in CUMH and maternity hospitals across the country will now be tested for another two rare diseases during the heel prick test, it was announced this week. On Monday, Minister for Health Jennifer Carroll …

Opinion: FDA delays on rare disease drugs put my son and other children with rare diseases at risk

⏰ Last chance to share your voice. Our reader survey closes soon — tell us what’s working and what’s missing. Take the survey. By Angelina Olivera When Dr. Vinay Prasad leaves the Food and Drug Administration this month, my husband and I will raise a toast …

Opinion: My brother can’t access a just-approved breakthrough drug for his rare disease

For most of my life, my family has been advocating for therapies to help my twin brother. While the recent approval of a new drug should give us reason to celebrate, there is still more work to do. My twin brother is 28 years old and has severe Hunter …

Valley Fever: Student diagnosed with rare disease fighting for his life

PHOENIX - A 21-year-old student visiting Arizona for school faces a grueling recovery after contracting a rare fungal infection. What we know: Kaha Kelau came from Hawaii to Arizona for a brief time to study mechanics. But he left with a paralyzing illness …

“I’m not that person anymore” Live Oak teen’s life transformed by rare disease treatment

Hainan's 1.6-day approval: A rare disease lifeline

Once requiring years for overseas pharmaceuticals to enter the Chinese market, the Boao Lecheng International Medical Tourism Pilot Zone in Hainan has slashed the average approval timeline for globally advanced medical products to just 1.6 days. As China…

Artificial Intelligence (AI) Platforms Could Enhance Jaguar Health's Development and Anticipated Commercialization of ...

Global Market for Short Bowel Syndrome, Including Intestinal Failure (IF), Estimated to Reach $8.0 Billion by 20331 AI data mining of real world clinical and symptom manifestation is beneficial in the development of credible links between genetics, …

Where there’s a will, there’s a champion!

‘FebRAREuary2026’ was a month-long campaign on spreading awareness about rare diseases organized by World Without GNE Myopathy, Delhi. Shubhra Sinha shares her story written for the campaign Symptoms of rare diseases often creep up quietly, rather than …

Seven State Hospitals under Review Over Up to 16-Fold Price Dfferences in Medicines

Significant disparities in the prices paid for medicines used to treat children with rare diseases have been uncovered in Bulgaria, following an inspection by the Ministry of Health in seven state hospitals. In one case, a hospital in the capital, Sofia, …

Upcoming event looks to bring awareness to rare disease

Posted: Apr 13, 2026 12:12 PM CDT Updated: Apr 13, 2026 2:11 PM CDT by WAKA Action 8 News MONTGOMERY, Ala. (WAKA) – An upcoming event looks to bring awareness to rare and serious disease. Amyloidosis is caused by abnormal proteins depositing in organs and …

COLUMN: A diagnosis isn’t care — inside Ontario’s failure to treat rare disease patients

Timely access to care at every stage is key, writes Gabrielle Gallant, who shares her personal experience with Ehlers-Danlos Syndrome Editor's note: This article originally appeared on The Trillium, a Village Media website devoted exclusively to …

Dr. Tiffany Mackey to Serve as Awards Day 2026 Speaker at Shaw University

Dr. Tiffany Mackey Shaw University will welcome alumna Dr. Tiffany Mackey as the featured speaker for Awards Day 2026, scheduled for Thursday, April 16th at 11 AM in Thomas J. Boyd Chapel. A Savannah, Georgia native, Mackey is a recognized rare disease …

Rare disease advocates push for local insurance reforms, improved access to care

Odds are, most people have probably met someone with a rare disease — or even has one themself. While each condition on its own might be uncommon, altogether there are about 25-30 million people in the U.S. currently living with a rare disease, according …

Base editing repairs mutation and liver function in mouse model of Zellweger spectrum disorder

The authors tested two different base editors in mice — one called ABE8e and a modified version called ABE8e-V106W — and found that both efficiently corrected the PEX1 mutation, but ABE8e-V106W was significantly better tolerated in the animals and made …

How to Fix a Diagnosis Crisis

In her first year of medical school, Diana Cejas discovered a lump in her neck. She went to the student medical center to have it evaluated and was told that it was likely benign. But the lump kept growing, and she returned to her doctors, who reassured …

5 biopharma M&A deals where the workforce was the prize

Pharma M&A deals tend to revolve around key assets that can bolster the pipeline and provide growth. But sometimes, the buyer sees a lot more in the expertise within the target organization. That was the case with Gilead Sciences’ recent acquisition of …

BIO Coffee Chat explores venture philanthropy

Patient advocacy is a driving force behind some of today’s most promising breakthroughs in biotechnology—where progress is increasingly powered by strong, productive collaboration between biopharma companies and patient advocacy leaders. Together, they are …

Deep dive: Checking in with the FDA

The FDA in 2025 was marked by a constant state of turmoil, from a massive workforce reduction that cut some 3,500 staffers and resulted in delays on new drug applications to reversals of guidance that led to surprise rejections. Then there was a leadership …

FDA bolsters bespoke therapy framework with new draft safety guidelines

The FDA has unveiled new draft guidance for gene editors, specifically those using next-generation sequencing techniques to pinpoint unintentional consequences associated with certain gene therapies. The safety guidance is intended to help standardize …