Sponsored

The role of rare disease education in the diagnostic odyssey

Redefining the rare disease launch to reach every patient

Rare Diseases 2025

The vision for a competitive Europe that rare diseases offer

Family in the park on bicycles. two sibling brothers kids boys compete in riding. view from back

Connecting, cycling and changing children’s lives

Vibrant blood test tubes are arranged neatly in a sleek holder, showcasing their unique colors and caps, symbolizing the critical role of laboratory testing in health assessments and diagnostics

Rare Diseases 2025

Diagnosing the world’s forgotten children through genomic testing

Rare Diseases 2025

Reality series star Andy Ryan reveals rare KTWS diagnosis

Doctor and little boy patient. Ultrasound equipment. Diagnostics. Sonography.

Rare Diseases 2025

Building the evidence for genomics supporting newborn screening

A study led by Genomics England in partnership with NHS England is looking to understand whether we can improve the ability to diagnose and treat genetic conditions from birth. Following the Generation Study’s launch in 2024, we’re seeing real impact for families living with rare conditions. Earlier diagnoses and treatment The Generation Study is looking … Continued

Truth and trust go hand in hand in rare disease information

Doctors, conversation and people in hospital, tablet and teamwork with email for treatment approval. Employees, coworking and medical with healthcare, discussion and tech with results and schedule

Rare Diseases 2025

Improving equity for rare diseases through global policy

Supportive doctor soothing a worried overweight patient, discussing test result in emergency room. Illnesses and diseases in middle-aged men's health. Compassionate physician supporting stressed

Protected: Joining the dots for patients living with rare primary immunodeficiencies

The rare disease community — why it’s more than you can imagine

Asian caregiver talking senior male patient checkup in living room at home. Older elderly man consults after physical therapy. Nurse assistance rescue concept

Integrating patient insights into rare disease research drives meaningful change

Serious doctor

Primary biliary cholangitis symptoms, support and campaign for better care

Learn about primary biliary cholangitis (PBC), a rare autoimmune liver disease. Discover where to find global support, be part of advocacy and join initiatives to improve care. Primary biliary cholangitis is a rare autoimmune disease that affects the bile ducts within the liver. In simple terms, the body’s immune system mistakenly targets and attacks its … Continued

Shining a light on rare cancers: the role of continuing medical education

Rare Diseases 2025

Gain insights from the largest orphan drug and rare disease event globally

People, medical team and laptop for collaboration, advice and discussion for surgery or patient records. Doctor, technology and professional opinion for help, results and health in clinic or hospital

Rare Diseases 2025

Clinical clues pointing to rare disease

Rare Diseases 2025

Rare diseases and health equity: shifting the paradigm through global action

Children’s charity campaigns for awareness and education of NF1

Genomic analysis visualization. Dna genomes sequencing, deoxyribonucleic acid genetic map and genome sequence analyse vector concept

Rare Diseases 2025

Investigating genomic newborn screening for rare conditions

A new study is investigating the feasibility and acceptability of using whole genome sequencing to screen newborns for rare conditions where early treatment is available. I have met many families impacted by rare conditions and collectively we must do more for them. That means finding ways to diagnose rare conditions earlier so that support and … Continued

AI-powered drug discovery company in phase 2 clinical trial for NF1 treatment

Why patient voices can help unlock rare disease treatment breakthroughs

Mom, nurse and black child patient in hospital for recovery of surgery for congenital heart disease. Checkup, sick and cardiology medical worker with happy mother and kid for postoperative care

A brighter future for children with cancer

Rare voices, bold advances: how MPN patients are helping shape medicine

Rare Diseases 2025

More than you can imagine: rare diseases in focus