Orphanet Journal of Rare Diseases

"Student Voice" Winner: "Unmasked"

We are proud to publish the winner of Findacure/ M4RD's "Student Voice” contest, a moving reflection from Barts and The London School of Medicine and Dentistry student Catriona Chaplin, on three patients and their families living with mastocytosis. Catriona discusses the difficulties faced and how these challenges can resonate more widely with other patient groups in the community. Read this great article, here.

Rare Disease Day blog: CDER’s Progress in Rare Diseases

This piece is authored by the Rare Diseases Team within the FDA's Division of Rare Diseases and Medical Genetics (Center for Drug Evaluation and Research), taking us through its productive efforts in approving new and/or repurposed treatments, for patients with rare diseases. Click here to read this blog.

Rare Disease Day blog: Rare Diseases – a Research Priority for Everyone

In this Rare Disease Day blog, Dr. Anne R. Pariser (Director of the Office of Rare Diseases Research, at the NIH's National Center for Advancing Translational Sciences) discusses the milestones reached and benefits achieved for patients of both rare and common diseases, via rare disease research. This great piece is now available for all to read, here!

Rare Disease Day blog: Rare Disease Day Quiz 2021

The 2021 editon of our annual Rare Disease Day quiz, which aims to see how much you may already know about rare diseases and teach you some facts along the way. Along with research taken from content published in our journal over the last year, be prepared to see how often rare diseases show up in popular culture. Be sure to share your score @OJRareDiseases, using #RareDiseaseDay.

Rare Disease Day blog: Exercise Capacity Restored by Yoga in LAM

We hope you will take great interest in a blog by one of our journal's Section Editors, Kai-Feng Xu (Peking Union Medical College Hospital, China), an inspiring account of yoga effectively improving the exercise capacity of patients with lymphangioleiomyomatosis (LAM). Please read this interesting piece, here.

Rare Disease Day blog: What challenges have presented in a global pandemic?

Our content continues with another finalist from Findacure & Medics4RareDiseases’ "Student Voice” contest. Sanjana Ashok, a student at St George’s, University of London discusses COVID-19’s negative effects on rare disease research and patient care. You can read this revelatory and important blog, here.

Rare Disease Day blog: What is Leigh Syndrome?

Our first Rare Disease Day blog from Findacure and Medics4RareDiseases’ "Student Voice” contest, was a finalist. University of Edinburgh student Molly Bowden uses her experiences with a Leigh Syndrome patient, to discuss some of the changes which need to be made in patients’ care in order to improve lives. Please read this piece on our blog network, here!

Rare Disease Day blog: Journey of a rare disease patient

Our final blog from the finalists of Findacure and Medics4RareDiseases’ "Student Voice” contest, comes from Caitlyn Taylor, a student from the University of Edinburgh. She tells us of her time with an Addison’s disease patient, and how she learned of the importance for doctors to be aware of the rare conditions they do not expect to encounter in their careers. The journey begins here.

Do you have an idea for a thematic series? Let us know!