Hot Keywords
rare disease orphan drug

Topic: Newborn Screening I - Real World Applications and Technologies

A special issue of Rare Disease and Orphan Drugs Journal

ISSN 2771-2893 (Online)

Submission deadline: 31 Mar 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

  • Dr. Virginie Bros-Facer
    EURORDIS-Rare Diseases Europe, Paris, France.

    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
● Patient Perspectives on NBS
● Policy and Ethics

This special issue will be devoted to real-world applications and technologies on NBS.

At present, the screening of neonatal genetic diseases is mainly based on the detection of metabolite biochemical indicators. Most NBS is performed with a small blood sample obtained from each infant's heel, and biochemical screening techniques to detect specific metabolites in dried blood spots play an important role in screening newborns for genetic diseases. In recent years, genetic testing technologies for screening neonatal genetic diseases have gradually developed, including quantitative polymerase chain reaction technology and high-throughput sequencing technology. High-throughput sequencing is further divided into gene package sequencing, whole-exome sequencing and whole-genome sequencing. With the advancement of genetic testing technology, genetic screening will help to expand the screening scope of neonatal genetic diseases. The combination of biochemical index detection of some inherited metabolic diseases and genetic testing technology will improve the screening efficiency of neonatal genetic metabolic diseases. This special issue will focus on:
1. What technologies are being used today for NBS?
2. Practical experiences in delivering results of NBS?

Submission Deadline

31 Mar 2023

Submission Information

For Author Instructions, please refer to
For Online Submission, please login at
Submission Deadline: 31 Mar 2023
Contacts: Yuna Ding, Assistant Editor,

Published Articles

© 2016-2022 OAE Publishing Inc., except certain content provided by third parties