Transforming the medical community's approach to rare diseases

Our mission is to ​develop a novel platform for reporting clinical information regarding rare diseases that enables data-pooling, synthesis and collaboration with the goal of advancing care for patients with rare conditions.

Our Story

Gaining knowledge is the first step to wisdom
Sharing knowledge is the first step to humanity.
- Author unknown
Since childhood, my mother and I journeyed together through her recovery, complications of neurosurgery and the disappointment of recurrence from a jugular foramen schwannoma – a rare tumor location.

Then came my sister’s wedding. Her future mother-in-law did not attend. Six months prior she danced at her daughter’s wedding but that day she relied on a ventilator to sustain her breaths. The diagnosis at autopsy - Fatal Familial Insomnia.

A rare hereditary disease? A new, de novo, mutation in a patient with no family history – even more rare. Her case remains unpublished. Would knowledge of other cases change her outcome? Unlikely. Could knowledge of non-hereditary cases help guide the diagnosis, medical care and counseling for her children? Absolutely.
Later, during my medical training at least once a year, I met a patient with a rare disease. We consulted case reports but rarely wrote our own - it was an arduous task. 

I started to ask, are we limited in our understanding of rare diseases by lack of knowledge or lack of shared knowledge?

Thus, arose the question - How can we design a platform that compels providers and patients to share data by harnessing tools of the modern era to revolutionize archaic publishing models and advance the care of patients with rare diseases?

The RDOD was created to lead this initiative.

                                             - Shivani Sud, RDOD Editor-In-Chief
Read about our mission, aims and how we plan to achieve our promise to advance care for patients with rare diseases

What diseases are eligible for inclusion?

Rare diseases are defined differently by various organizations and nations. We recognize that any threshold set to define rarity is artificial. The goal of the RDOD is to advocate for patients with rare diseases, especially, in cases where very little is known about a disease. Read more about our inclusion criteria. 
The RDOD will undergo a phased roll-out. Our public launch in fall 2021 will feature the RDOD Oncology division which will prioritize reporting, organization and engagement efforts around rare tumors. 

Submissions

External submissions for the Oncology division will open in Spring 2022. Authors may submit case reports or systematic reviews on rare tumors with an existing page in the database or one that is not yet listed.