Open access peer-reviewed Edited Volume

Common Disease Genetics

Maria Puiu

Victor Babeș University of Medicine and Pharmacy Timișoara


Andreea Dobrescu

Victor Babeș University of Medicine and Pharmacy Timișoara


Complex Counseling Inheritance Multifactorial Non-mendelian GeneticsRisk Factors Environmental Factors Recurrence Cleft Lip/Palate Neural Tube Defects Congenital heart disease

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About the book

Multifactorial heredity refers to the action of several genes, which interact with each other and together with environmental factors and determine a certain phenotype. These genes have a minor effect but their action adds up and creates the genetic predisposition.

Genetic predisposition is converted into a pathological phenotype only under the effect of environmental factors.
Multifactorial disorders are considered to be the most common features that affect people, such as diabetes, high blood pressure, coronary heart disease, and cancer, as well as some of the common isolated birth defects, including cleft lip or palate, neural tube defects, congenital heart disease, and clubfoot.

Multifactorial inheritance did not follow a simple Mendelian pattern. However, the recurrence risk of multifactorial disorders is higher in relatives of affected individuals than in the general population. The empirical risks of a multifactorial disorder are based on large population studies.

It is important to understand the multifactorial transmission model for proper genetic counseling and for avoiding environmental factors, a measure that could ensure the prophylaxis of these common diseases.
This book intends to provide valuable evidence-based information, a comprehensive overview of this complex pathology. The aim will be to highlight the importance of collaboration and multidisciplinary teams for multifactorial disease management in an easy-to-follow format.

Publishing process

Book initiated and editor appointed

Date completed: October 30th 2019

Applications to edit the book are assessed and a suitable editor is selected, at which point the process begins.

Chapter proposals submitted and reviewed

Deadline Extended: Open for Submissions

Potential authors submit chapter proposals ready for review by the academic editor and our publishing review team.

Approved chapters written in full and submitted

Deadline for full chapters: January 19th 2020

Once approved by the academic editor and publishing review team, chapters are written and submitted according to pre-agreed parameters

Full chapters peer reviewed

Review results due: April 8th 2020

Full chapter manuscripts are screened for plagiarism and undergo a Main Editor Peer Review. Results are sent to authors within 30 days of submission, with suggestions for rounds of revisions.

Book compiled, published and promoted

Expected publication date: June 7th 2020

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About the editor

Maria Puiu

Victor Babeș University of Medicine and Pharmacy Timișoara

Maria Puiu is a professor and chief of human genetics department at the University of Medicine and Pharmacy 'Victor Babes” Timisoara, Romania. She is also chief of genetics department in the Emergency Hospital for Children 'Louis Turcanu” Timisoara. Between 2010-2018, she has been the President of the Romanian Society of Medical Genetics. She is an expert in both genetics and pediatrics. During her professional career, Professor Puiu has published over 300 articles in national and international journals, along with more than 35 books, guidelines and courses. Her career focus is centered on rare diseases, influencing research and awareness in this field. She is a founding member and vice-president of the National Alliance for Rare Diseases, and works on improving policies and implementing projects for the National Rare Diseases Plan. She was involved in grant projects focused on rare diseases and she is an expert evaluator for the European FP7 on rare diseases program.

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Book chapters authored 3

Books edited 1

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