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Paediatric Genomics: Diagnosing Rare Diseases in Children
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Paediatric Genomics: Diagnosing Rare Diseases in Children

A special issue of Journal of Personalized Medicine (ISSN 2075-4426).

Deadline for manuscript submissions: closed (29 February 2020) | Viewed by 4841

Special Issue Editors

Prof. Pritmohinder S. Gill

E-Mail Website
Guest Editor
Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Arkansas Children’s Research Institute, Little Rock, AR 72202, USA
Interests: pharmacogenomics; neurodevelopmental disorders; hepatotoxicity; precision medicine
Dr. Thomas Andrew Burrow

E-Mail Website
Guest Editor
Department of Pediatrics, College of Medicine, Universityof Arkansas for Medical Sciences, Little Rock, AR 72205, USA
Interests: clinical trials; lysosomal storage disease; neurodegeneration; inborn errors of metabolism

Special Issue Information

Dear Colleagues,

Paediatric rare diseases can impose a substantial medical, financial, and psychosocial burden on patients and families, as a result of the various implications of these conditions.  The past decade has been full of medical diagnostic and therapeutic promises because of the completion of human genome project (HGP), a great scientific achievement. Paediatric genomics is rapidly evolving in the 21st century with the advent of advanced genetic testing technology, including Next Generation Sequencing (NGS).  A wide variety of sequencing platforms are available such as whole exome sequencing (WES) and whole genome sequencing (WGS) to diagnose and treat rare diseases. For this reason, this special issue will explore the use of such technologies in diagnosing rare genetic conditions in children. Additionally, newer disease specific treatments are being developed, changing the outcome for children with previously untreatable genetic diseases.  Scientist and clinicians are encouraged to submit their scientific contributions in Paediatrics genomics, which will further the field of rare disease diagnostics in children.

Dr. Pritmohinder S. Gill
Dr. Thomas Andrew Burrow
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Personalized Medicine is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Paediatric genomics
  • rare diseases
  • whole genome sequencing
  • whole exome sequencing
  • genomic diagnostics

Published Papers (1 paper)

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Research

9 pages, 1109 KiB  
Article
Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency
by Laith N. AL-Eitan, Kifah Alqa’qa’, Wajdi Amayreh, Rame Khasawneh, Hanan Aljamal, Mamoon Al-Abed, Yazan Haddad, Tamara Rawashdeh, Zaher Jaradat and Hazem Haddad
J. Pers. Med. 2020, 10(1), 4; https://doi.org/10.3390/jpm10010004 - 21 Jan 2020
Cited by 5 | Viewed by 4210
Abstract
Biotinidase deficiency is an autosomal recessive metabolic disorder whose diagnosis currently depends on clinical symptoms and a biotinidase enzyme assay. This study aimed to investigate the mutational status and enzymatic activity of biotinidase deficiency in seven unrelated Jordanian families including 10 patients and [...] Read more.
Biotinidase deficiency is an autosomal recessive metabolic disorder whose diagnosis currently depends on clinical symptoms and a biotinidase enzyme assay. This study aimed to investigate the mutational status and enzymatic activity of biotinidase deficiency in seven unrelated Jordanian families including 10 patients and 17 healthy family members. Amplified DNA was analyzed by the automated Sanger sequencing method, and the enzymatic assay was performed using a colorimetric assessment. Biotinidase level was significantly lower (p < 0.001) in BTD children compare to their non-affected family members. Genetic sequencing revealed six different mutations in Jordanian patients. One mutation was novel and located in exon 4, which could be a prevalent mutation for biotinidase deficiency in the Jordanian population. Identification of these common mutations and combing the enzymatic activity with genotypic data will help clinicians with regard to better genetic counseling and management through implementing prevention programs in the future. Full article
(This article belongs to the Special Issue Paediatric Genomics: Diagnosing Rare Diseases in Children)
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