Genetics and Inherited Diseases
A special issue of Medicina (ISSN 1648-9144). This special issue belongs to the section "Genetics and Molecular Medicine".
Deadline for manuscript submissions: closed (30 April 2023) | Viewed by 16714
Special Issue Editors
2. Centre for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia
Interests: inherited diseases; genetic variations; genotype–phenotype correlation
Special Issue Information
Dear Colleagues,
Individually, genetic diseases are rare. However, collectively, they form a large group of disorders of more than 7000 different conditions. They affect, approximately, 1 in 10 individuals worldwide. Delineating the disease-causing mechanisms underying genetic diseases is important not only for the development of targeted therapies but also for a more comprehensive understanding about the genetic processes taking place in our body that direct development and tissue regeneration. From a clinical perspective, advancement in our understanding of the genetic basis of rare diseases might enable the development of new biomarkers to assess future risk and help in identifying novel therapeutic targets that could have potential for future treatments.
In this Special Issue, our aim is to (a) publish research studies on rare genetic ocnditions, including, but not limited to, skeletal deformities, neurodevelopmental disorders, ectodermal dysplasia, (b) provide a rapid turn-around time regarding reviewing and publishing, and (c) disseminate the articles freely for research, teaching, and reference purposes.
We encourage our eminent authors to contribute feature papers reflecting the latest progress in their research field. Topics include, but are not limited to:
Genetics of:
- Neurodevelopmental disorders,
- Ectodermal dysplasias,
- Skeletal deformities,
- Exome sequencing in rare inherited diseases,
- Genotype–phenotype correlation in genetic diseases.
Dr. Sulman Basit
Dr. Asmat Ullah
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. Medicina 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 1800 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
- genetic disorders
- skeletal deformities
- neurodevelopment disorders
- genetic variations
- mutations
- exome sequencing
- segregation