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Topic: Newborn Screening II - Patients Perspectives on NBS

A special issue of Rare Disease and Orphan Drugs Journal

ISSN 2771-2893 (Online)

Submission deadline: 30 Jun 2023

Guest Editor(s)

  • Prof. David A Pearce

    Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, SD, United States.

    Website | E-mail

Special Issue Introduction

Newborn screening (NBS) is a public health measure. By conducting screening tests on newborns, it aims to achieve early diagnosis of severe but treatable genetic diseases that may not have obvious symptoms at the early stage, thereby reducing morbidity and mortality. Different NBS programs have been practiced in many countries since the 1960s. However, access to screening at birth remains unequal in many countries, and many even do have comprehensive newborn screening and follow-up. The International Rare Diseases Research Consortium (IRDiRC), as a global organization, is ideally suitable to present papers on the application of NBS, patient perspectives, and the different approaches adopted around the world. Apparently, NBS is a huge topic, so RDODJ put together three topics and proposed this special issue covering three general areas. Some topics of interest include:
● Real World Applications and Technologies
● Patients Perspectives on NBS
● Policy and Ethics

This special issue will be devoted to patient perspectives on NBS.

Most patients with rare diseases will sooner or later have multiple organ function involvement, especially respiratory, circulatory and nervous systems, which may lead to respiratory failure, liver and kidney damage, physical and mental retardation, inability to take care of themselves, and even life risk. The sooner treatment is intervened, the better the effect. According to statistics, about 80% of rare diseases are caused by genetic defects, 50% are onset during birth or childhood, 30% of them cannot live past the age of 5, and about 35% of neonatal deaths are caused by rare diseases. NBS is the most cost-effective means of preventing rare diseases. This special issue will focus on:
1. The diagnostic odyssey of rare diseases: up to 6 years to be diagnosed
2. How do I get access to NBS?
3. What are the implications of NBS for rare diseases?

Submission Deadline

30 Jun 2023

Submission Information

For Author Instructions, please refer to
For Online Submission, please login at
Submission Deadline: 30 Jun 2023
Contacts: Yuna Ding, Assistant Editor,

Published Articles

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