Search results for Rare Disease

Rare Disease Hunger Games

Rare Disease Hunger Games Anonymous (not verified) Wed, 04/22/2026 - 11:12 field_thread_url https://cafepharma.com/boards/threads/rare-disease-hunger-games...

Recordati Rare Disease

Recordati Rare Disease Anonymous (not verified) Sat, 04/18/2026 - 08:08 field_thread_url https://cafepharma.com/boards/threads/recordati-rare-disease.68363...

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-...

Rare Disease Business As Usual

Rare Disease Business As Usual Anonymous (not verified) Sun, 05/10/2026 - 08:23 field_thread_url https://cafepharma.com/boards/threads/rare-disease-busines...

Rare disease salary?

Rare disease salary? Anonymous (not verified) Tue, 05/05/2026 - 02:20 field_thread_url https://cafepharma.com/boards/threads/rare-disease-salary.679410/...

Rare disease turned into Primary Care sales force

Rare disease turned into Primary Care sales force Anonymous (not verified) Tue, 05/12/2026 - 11:23 field_thread_url https://cafepharma.com/boards/threads/r...

‘Living with a rare disease like Hurler syndrome hasn’t held me back – it’s given me the best life’

One in every 17 people has a rare disease – I’m one of those people. I have mucopolysaccharidosis type I. It’s more commonly known as ‘Hurler syndrome’, but even when I use that te...

Father of rare disease patient fears losing 'second son'

Patients with rare diseases and their families travelled to Leinster House to call for action on access to new medicines.

Children with rare debilitating brain diseases suffer from mutations in a little-known protein complex

Thousands of times per year, a family's moment of joy turns to unexpected grief. A seemingly healthy infant stops smiling or making eye contact. Their limbs grow weak. The tiny chi...

Raising awareness: Versailles family faces diagnosis of rare syndrome

A father and all three of his children in Versailles have been diagnosed with a very rare syndrome - Loey Dietz Syndrome. It's a genetic connective tissue disorder.

Small pools, big ideas: How the rare disease community is reimagining clinical trials

The traditional gold standard of clinical trials with a randomized, placebo-controlled design involving hundreds of patients has inherently been unfeasible for the rare disease com...

New Rare Genetic Neurodevelopmental Disorder Identified

Researchers discovered RPN1-CDG, a new rare genetic disease. The condition is caused by an RPN1 gene mutation that disrupts how cells attach sugar molecules to proteins.

Rare Disease Research, myTomorrows team up to help patients access trials

Clinical trial site network Rare Disease Research (RDR) is partnering with health tech company myTomorrows to increase trial visibility and support more referrals from community an...

Rapid genomic testing helps 1,100 families worldwide target treatment for rare childhood disease

An international partnership designed to improve equality in access to genomic medicine for a rare disease has now provided potentially life-saving genetic testing for over 1,100 f...

<![CDATA[The Long Wait for Rare Disease Treatment Approval: Q&A with Dr. Patricia E. Greenstein]]>

Doctor shares insight on having siblings with a rare disease

When a child has a rare disease, it affects the whole family. Dr. Dawn-Marie Gotkiewicz, pediatrician at Akron Children’s Urgent Care, knows what it’s like. She lost both of her yo...

Sanofi and Wave post AATD updates in race to end genetic disease’s 40-year new treatment drought

Sanofi and Wave Life Sciences are using their time at the annual meeting of the American Thoracic Society in Orlando to share updated data for their next-gen attempts to treat a pr...

Relay drug shows early promise against rare blood vessel diseases

While early, the findings suggest the therapy could be superior to Novartis’ Vijoice at treating “vascular anomalies,” a cluster of chronic conditions with few available treatments...

Raising awareness: Versailles family faces diagnosis of rare syndrome

WOODFORD COUNTY, Ky. (ABC 36 News Now) — A Woodford County family has beaten the odds, but not in a way they want. A father and all three of his children have been diagnosed with a...

New genetic roadmap offers targeted treatment for rare inflammatory disorder

Not all broken genes fail in the same way: some simply stop working, while others interfere with what still works.

Interoperable Integration of a National Rare Disease Registry Into a Rare Eye Disease Data Warehouse: Implementation Stu...

Background: In France, clinical data on rare diseases are primarily collected through BaMaRa (Base Maladies Rares), a software platform used by national expert centers to populate...

Scientists find promising new drug against rare, life-threatening kidney disease

A groundbreaking oral drug, N-propargylglycine (N-PPG), has shown remarkable success in preventing fatal kidney damage in mice with Primary Hyperoxaluria Type 2 (PH2). This rare ge...

FDA Issues Recommendations for the Development of Individualized Therapies for Patients With Ultra-Rare Diseases

As discussed previously (“New FDA Guidance Allows Biosimilar Applicants to Use Data From Outside the U.S. To Accelerate Their Approval in the U.S.”), the U.S. Food and Drug Adminis...

Rare skin condition patients gain access to new treatment

The first authorised treatment for a painful and incurable skin condition has been made available in Ireland, in what has been described as a "transformative moment".