Preface

**Chapter 7 117**

**Chapter 8 131**

Clinical Validation of a Whole Exome Sequencing Pipeline

Integrating Evolutionary Genetics to Medical Genomics:

*by Ugur Sezerman, Tugce Bozkurt and Fatma Sadife Isleyen*

Evolutionary Approaches to Investigate Disease-Causing Variants

*by Debra O. Prosser, Indu Raja, Kelly Kolkiewicz,* 

*Antonio Milano and Donald Roy Love*

**II**

Understanding disease pathology and physiological pathways depends on research that examines how certain genes become abnormal. Disease processes with personal patterns can be elucidated through molecular medicine. The crux of the cure lies in precise detection and predisposition of the disease. Revealing molecular mechanisms helps create an effective personalized treatment and minimize side effects. Treatment risk and response to therapy prediction can be forecasted through early diagnosis, which improves prognosis reliability, and the effectiveness of therapies. Using this concept, monitoring health is a way to both make predictions and devise prevention. This book covers contemporary advances in molecular markers, disease-causing variants, retroelements, and the basis of distinct diseases.

> **Dr. Yusuf TUTAR** Professor, University of Health Sciences, Turkey

**1**

Section 1

Diseases

Section 1 Diseases

**3**

**Chapter 1**

**Abstract**

Diseases

Molecular Mechanisms of Distinct

*Adnan Batman, İrem Yalım Camci, Elif Kadioglu,* 

*Ezgi Nurdan Yenilmez Tunoglu and Yusuf Tutar*

the most common disease of each class.

immunology and infectious diseases

with the molecular mechanisms.

**1.1 Chromosomal diseases**

*1.1.1 Down syndrome*

**1. Introduction**

*Kezban Uçar Çifçi, Berçem Yeman Kıyak, Servet Tunoglu,* 

Molecular medicine describes molecular structures and mechanisms and this chapter focuses on molecular and genetics errors of diseases. Diseases can be classified into deficiency diseases, hereditary diseases, infectious diseases and physiological diseases and to get a glimpse of the mechanisms the chapter covers

**Keywords:** chromosomal diseases, cancer, neurodegenerative diseases, pulmonary

Distinct diseases have different etiology pattern and this chapter covers the chromosomal diseases, cancer, neurodegenerative diseases, pulmonary diseases, obesity-induced insulin resistance, lymphoblastic leukemia, viral immunology and infectious diseases. These communicable and non-communicable diseases negatively affect structure-function of the organism and specific symptoms are associated with these conditions. Pathogens or internal dysfunctions may lead these diseases. The chapter provides pathology of selected diseases from each class along

Down syndrome (DS) is the most common chromosomal genetic disorder. The disease is caused by the trisomy of human chromosome 21 (HSA21) and is also the most genetic mental disability [1]. The HSA21 mosaic can also lead to DS. Maternity age is an important aspect in the formation of an individual with DS [2]. The main cause of this disease is the absence of normal chromosome separation during meiosis and the production of gametes with two copies of chromosome copies instead of a single copy. As a result, DS individuals have trisomy 21 in some body cells, and a normal number of chromosomes in others. This is called mosaicism and is seen in approximately 4% of DS individuals. The term mosaicism was first reported in 1961

diseases, obesity-induced insulin resistance, lymphoblastic leukemia, viral
