Global Outreach-The Rare disease patient journey and regulatory obstacles in India; USP7 as a case study

This project was conducted for Rare Science, a non-profit organization that works directly with patient families and foundations to accelerate therapeutic solutions for children with rare diseases. Introduction The famous philosopher once said, “Rare is the union of Purity and Beauty” - but this thought, however beautiful might not apply to diseases that are rare. In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people at any given time [1]. When a disease occurrence is seldom, it is difficult for parents to seek answers to procure a quick diagnosis, find the root cause, and identify a treatment plan. Rare Science aspires to connect patients, researchers, and physicians to accelerate discovery for therapeutic treatments. The Patient Outreach team focuses on a single rare genetic disease/condition each month. The overarching goal is to understand the disease, describe the common symptoms and identify closely related diseases (overlapping conditions). To accomplish this, physicians are interviewed, data is collected from the National Organization of Rare Disease (NORD), and a review of the literature is conducted. The information that is collected is uploaded through the RARE Hub which is a neutral common computational platform that links stakeholders including the patient family, foundation, research scientists and clinical entities. This then serves a valuable resource for any interested parties and may help with early diagnosis and intervention. Apart from the work of the patient outreach team, Rare Science aims to unite patient communities across the world by building registries rich in patient-reported information, clinical and research data.