Meet the editors

Dr. Sinem Nalbantoglu is senior investigator in the field of molecular medicine and bioengineering, and chief senior researcher at the Laboratory of Molecular Oncology at the Gene Engineering and Biotechnology Institute, TUBITAK Marmara Research Center. She performed her postdoctoral studies at Georgetown University School of Medicine and National Institutes of Health. Dr. Nalbantoglu's research and teaching focus on systems and

molecular medicine, including omics-based clinical biomarkers for precision oncology and autoinflammation. She holds a TUBITAK R&D Women Entrepreneur Innovation Award, and works as principal investigator, senior researcher, and co-investigator of several partnering projects; she also supervises MSc and PhD students. She publishes her work in peer-reviewed national and international journals, and has authored/coauthored book chapters and conference proceedings. In addition, she has presented national/international invited talks, and has been a reviewer for many scientific journals.

Dr. Hakima Amri is a professor at Georgetown University School of Medicine in the Department of Biochemistry and Cellular and Molecular Biology and the Division of Integrative Physiology. She holds a Master of Science degree in Reproductive Physiology and a PhD in Steroid Biochemistry from Pierre and Marie Curie University-Sorbonne, Paris, France. She then moved to the United States, where she joined the Georgetown University Faculty.

Dr. Amri's research focus is on understanding the action mechanism of disease processes using comprehensive systems biology approaches. She investigates cancer biomarkers and bio-signature identification using big data. Her project is enhanced by the novel analytical approach she recently developed in collaboration with her colleagues. She uses this novel method to translate cancer omics, from genomics, proteomics, and metabolomics high-throughput data, into molecular signatures that are then presented in a multidimensional and dynamic model best suited for precision medicine. Dr. Amri is currently working on translating Phylomics® (http://phylomics.com) into a cost-effective and noninvasive diagnostic tool. Her work is supported by a recently granted patent by the US Patents Office. Dr. Amri has taught a significant number of students in classroom and laboratory settings, spanning undergraduate, graduate, doctoral, and postdoctoral levels. She received funding from both government and private sectors. Her scholarly activities are marked by her published work in peer-reviewed journals, presentations at national and international conferences, and authorship of a book on Avicenna's medicine, several book chapters, and reviews.

Contents

Medicine

Alzheimer's Disease

*by Munindra Ruwali*

Hyperpigmentation

*Pingshen Hu and Xiaodong Su*

*and Gustavo Acosta-Altamirano*

*by Sinem Nalbantoglu*

Cancer

**Preface III**

**Chapter 1 1**

**Chapter 2 11**

**Chapter 3 35**

**Chapter 4 49**

**Chapter 5 71**

**Chapter 6 89** A Novel P53/POMC/Gas/SASH1 Autoregulatory Feedback Loop and Pathologic

**Chapter 7 113**

**Chapter 8 137**

Energy Metabolism Heterogeneity-Based Molecular Biomarkers for Ovarian

*by Ding'an Zhou, Jiawei Zeng, Xing Zeng, Yadong Li, Zhixiong Wu, Xin Wan,* 

Introductory Chapter: Insight into the OMICS Technologies and Molecular

Precision Medicine: Role of Biomarkers in Early Prediction and Diagnosis of

*by Liming Shen, Sijian Xia, Huajie Zhang, Fang Yao, Xukun Liu, Yuxi Zhao,* 

Pharmacogenetics and Cancer Treatment: Progress and Prospects

*by Sinem Nalbantoglu and Abdullah Karadag*

CTCs as Liquid Biopsy: Where Are We Now? *by Laure Cayrefourcq and Catherine Alix-Panabières*

*by Na Li, Xiaohan Zhan and Xianquan Zhan*

Molecular Diagnosis of Invasive Aspergillosis

Metabolomics: Basic Principles and Strategies

*by María del Rocío Reyes-Montes, Esperanza Duarte-Escalante, María Guadalupe Frías-De-León, Erick Obed Martínez-Herrera* 

*Ming Ying, Javed Iqbal and Qiong Liu*

## Contents


*by Sinem Nalbantoglu*

Preface

Molecular medicine is an applied science focused on human genes/transcripts, proteins, metabolites, and metabolic networks that describe molecular and cellular processes of health and disease onset and progression. Molecular medicine aims to define associated predictive, diagnostic, and treatment assessment biomarkers for personalized diagnostic/therapeutic strategies, and for a targeted approach to providing the best healthcare for the twenty-first century. Here, in *Molecular Medicine*, a collection of scientific contributions addressing specifically the field of molecular biology and genetics, genetic epidemiology, laboratory medicine, molecular diagnosis, next-generation sequencing, mass spectrometry, omics technologies, biomarker discovery, liquid biopsy, cell heterogeneity, circulating tumor cells, cancer, *inflammation,* infectious diseases, systemic and chronic diseases, neurodegenerative disorders, pharmacogenetics and pharmacogenomics, and precision/personalized

In the first chapter entitled "Introductory Chapter: Insight into the OMICS Technologies and Molecular Medicine" by Sinem Nalbantoglu and Abdullah Karadag, an overview of the latest headlines of molecular medicine, including promising research strategies and their emerging roles in biomedical research, has been compiled. Throughout the chapter, primary objectives of molecular medicine, involving prediction of potential future pathologies, identifying disease state through effective screening and early diagnosis systems, decision-making on effective treatment strategies, monitoring prognosis and health status, as well as predicting recurrence earlier to apply alternative treatments, have been

In the chapter "Precision Medicine—Role of Biomarkers in Early Prediction and Diagnosis of Alzheimer's Disease" by Liming Shen, Sijian Xia, Huajie Zhang, Fang Yao, Xukun Liu, Yuxi Zhao, Ming Ying, Javed Iqbal, and Qiong Liu, the authors precisely outline clinical biomarkers and precision medicine for Alzheimer's disease, which is a chronic and irreversible neurodegenerative disorder. In this chapter, the authors introduce promising research efforts and progress in the development and validation of invasive, minimally invasive, and non-invasive personalized diagnostic strategies and their applications, neuroimaging techniques and neurochemical assays, novel ultrasensitive immunoassay, genetic testing, mass spectrometry methods, metabolomics, and

Munindra Ruwali, the author of the chapter "Pharmacogenetics and Cancer Treatment: Progress and Prospects," contributes a comprehensive review on the developments and recent advances in cancer research, pharmacogenetics, and oncogenetics. As precisely addressed by the author throughout the chapter, cancer pharmacogenetics has great importance for considering genotypic and phenotypic heterogeneity among patients, and offering personalized treatment leads to improved response to therapy and decreased side effects in

medicine is presented.

emphasized.

exosomes.

individuals.
