Search results for Rare Diseases

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...

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-...

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...

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...

‘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...

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...

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.

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/...

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...

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...

'Give us some hope' - Families seek access to rare disease drugs

Families, campaigners and clinicians are calling for more public money to be provided to pay for access to drugs which could help people with rare diseases.

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...

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.

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...

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...

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...

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

Experts zoeken twee dagen lang naar een diagnose voor patiënten met een zeldzame ziekte

A Simple Vitamin May Hold the Key to Treating Rare Genetic Diseases

A new study suggests that certain genetic diseases may be treatable with carefully matched vitamins, including a deadly childhood disorder that responded strikingly to vitamin B3....

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.

Children’s Hospital of Philadelphia researchers develop new RNA sequencing platform for diagnosing rare diseases

RNA sequencing using targeted long-read approaches enables detection of disease-causing variants by revealing how genetic changes disrupt full-length RNA molecules...

Access to generic Risdiplam sought under policy for rare diseases for people with Spinal Muscular Atrophy

The recent availability of India-manufactured generic Risdiplam offers a practical pathway, patients write in an appeal to the PM; access to treatment is time sensitive, with delay...

Tu1731 MEDICAL EXPERIENCES AND UNMET NEEDS IN VISCERAL MYOPATHY SYNDROMES: A PATIENT-REPORTED STUDY

Data on the Effective Long Term Treatment of Transthyretin Amyloidosis

Transthyretin is one of a small number of proteins that can misfold and aggregate to cause pathology in tissues, primarily the cardiovascular system, but other organs as well once...