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Special Issue Introduction

The International Rare Diseases Research Consortium (IRDiRC) was launched in 2011 by a joint effort between the
European Commission and the US National Institutes of Health with the vision to enable, through research, all people
living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical
attention.

To accomplish this ambitious task, IRDiRC has established 3 main goals:
Goal 1: All patients coming to medical attention with a suspected rare disease will be diagnosed within one year if their
disorder is known in the medical literature; all currently undiagnosable individuals will enter a globally coordinated
diagnostic and research pipeline.

Goal 2: 1000 new therapies for rare diseases will be approved, the majority of which will focus on diseases without
approved options.

Goal 3: Methodologies will be developed to assess the impact of diagnoses and therapies on rare disease patients.

Though much progress has been made towards meeting these goals, much work remains ahead. It is becoming increasingly
apparent that newborn screening (NBS) is our greatest weapon in identifying rare diseases early but major challenges
exist in implementing national screening programs for all newborns. New emerging technologies, such as next-generation
sequencing (NGS), offer the opportunity to screen for genetic disorders through a single test but can pose a challenge in
cost, complexity and access to appropriate equipment. In addition, there are ethical considerations of screening newborns
for diseases that may not affect them until later life, as well as the potential social stigma. Different cultures may also view
NBS in different lights which will often guide national policy that can differ greatly between countries. Taken together,
these issues pose a serious challenge to implementing comprehensive NBS programs globally which ultimately impacts on
our ability to identify and diagnose rare disease at an early stage.

Given IRDiRC’s goal of shortening the diagnostic odyssey for RD patients, we have brought together international experts
to provide insight into the current state of NBS worldwide, highlighting technological advances, as well as the many
challenges, to implementing comprehensive screening programs.

Rare Disease and Orphan Drugs Journal