You are leaving Medscape Education
Cancel Continue
Log in to save activities Your saved activities will show here so that you can easily access them whenever you're ready. Log in here CME & Education Log in to keep track of your credits.

PATHWAYS IN RARE DISEASE
Being Rare Together

Read Overview

 

 

 

 

 

 

 

 

A Medscape supported initiative with additional support provided by:
Actelion Pharmaceuticals Ltd, a Janssen pharmaceutical company of Johnson & Johnson; Amryt; Alexion Pharmaceuticals, Inc; Ipsen; Mirum Pharmaceuticals; Novartis; Roche; Takeda AG

Patient Journeys

CME Activities

Rare Disease Basics
Rare Disease Case Challenges
Allergy & Immunology
Cardiology
Critical Care
  • Did you know that frequent hospital visits for plasma infusions are a substantial burden for patients with congenital thrombotic thrombocytopenic purpura (cTTP)?
    0.25 CME
Dermatology
Diabetes & Endocrinology
Emergency Medicine
Family Medicine/Primary Care
Gastroenterology
Hematology
Internal Medicine
Medical Genetics
Nephrology
Neurology
Obstetrics and Gynecology
Oncology
Ophthalmology
Orthopedics
Pediatrics
Psychiatry
Pulmonology
Radiology
Rheumatology
Urology

Shorten the Journey

Earlier diagnosis to improve lives for patients and families with rare diseases

Resources

Steering Committee

Lucy McKay, MD
Lucy McKay, MD

Co-Chair

Chief Executive of Medics4RareDiseases
United Kingdom

William Evans, MD
William Evans, MD

Co-Chair

General Practitioner
Leeds, United Kingdom
Researcher
PRISM Research Group
University of Nottingham
Clinical Lead
Mendelian
Nottingham, United Kingdom

Gareth S. Baynam, MBBS, DCH, FRACP, PhD, A/FAIDH
Gareth S. Baynam, MBBS, DCH, FRACP, PhD, A/FAIDH

Steering Committee Member

Medical Director
Rare Care Centre
Perth Children's Hospital
Western Australia, Australia

Zainab Garba-Sani, MSc
Zainab Garba-Sani, MSc

Steering Committee Member

Harkness Fellow in Health Policy and Practice
Stanford University
Stanford, California, United States
Chair of Patient Advisory Board
Sickle Cell Health Inequalities Improvement
NHS England
Trustee, Sickle Cell Society
London, United Kingdom

Birutė Tumienė, MD, PhD
Birutė Tumienė, MD, PhD

Steering Committee Member

Associate Professor
Vilnius University Faculty of Medicine
Head of the Division of Clinical Genetics and Genomics Centre for Medical Genetics
Head of the Rare Disease Coordination Centre
Vilnius University Hospital Santaros Klinikos
Vilnus, Lithuania

Collaborators