The plight of persons living with a rare disease is a critical unmet need of patients in healthcare. The statistics are concerning; there are 7000 rare diseases in the world that affect 350 million people. Three-quarters of persons living with a rare disease are children and only half of patients receive an accurate diagnosis. The average delay for a patient to receive a diagnosis with a rare disease is 1 1/2 years. One in four patients living with a rare disease waits four years for an accurate diagnosis. There is an urgent need to communicate knowledge and expertise in the field of rare disease detection.

Research has been fueled by rapid genome sequencing, precision medicine, cancer research, artificial intelligence and big-data analysis — and the lessons learned from COVID-19. The advent of new technologies such as RNA-based therapies and CRISPR has prompted optimism for new therapies for rare diseases, many of which are currently untreatable.

But covering rare diseases has been a particular challenge for journalists because the word “rare” itself implies that the topic isn’t of particular interest to mass-market news audiences.

In fact, rare disease is not particularly rare among humans – an estimated 8% to 10% of the global population has one.  And though the number of people diagnosed with a particular rare disease in each country is often small, taken together, the number of rare disease patients and those who love and care of them may easily number half a billion people – and the advances being made in diagnosis and treatment may benefit far more.

After the remarkable success of last year’s program, for the second year, the National Press Foundation is offering an online conference for journalists who wish to cover rare diseases from Oct. 17-19, 2022. The program is free, on the record, and open to journalists from around the world.

The program will consist of online briefings and question-and-answer sessions from top world experts in rare diseases, diagnostics, targeted testing and drug development, as well as from leaders of patient advocacy groups and journalists who have been covering the issues.

In addition, NPF has selected 25 journalists as reporting grant recipients to execute a rare diseases project of their choosing. The fellows will also attend private online sessions with experts and coaches in narrative journalism.

Fellows’ work will be published first in the journalists’ chosen outlets, then reprinted in a compilation book produced by Fondation Ipsen, a Paris-based nonprofit that focuses on rare diseases, detection, inclusion and disability.

The volume produced from the 2021 NPF fellows’ work is available for free download here.

Support for this training comes from Fondation Ipsen. NPF is solely responsible for the content.