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The International Journal of the Royal Society of Thailand
Volume XI - 2019

Precision Medicine in

Hereditary Neurological Disorders:
From Diagnosis to Treatment

Ponghatai Boonsimma 1,2
Kanya Suphapeetiporn 1,2

Abstract

Over the past few decades, the field of precision medicine has grown
rapidly with advancements in medical sciences, molecular biology,
bioinformatics and sequencing technologies. It has a tremendous potential
for improving the quality of healthcare and patient outcomes. In this review,
we describe advances and challenges of strategies and tools particularly next-
generation sequencing for precise diagnosis of hereditary neurological
disorders. The emerging technologies for targeted therapies are also discussed.

Keywords: next-generation sequencing; neurology; whole exome sequencing,
whole genome sequencing, precision medicine

Introduction

It is evident that genetic factors contribute to several neurological disorders.
Before the era of next-generation sequencing (NGS), a large proportion of
patients were diagnosed with umbrella terms describing their clinical features
such as epileptic encephalopathy, leukodystrophy, congenital myopathy, and
polyneuropathy. Due to high genetic heterogeneity, conventional genetic testing
is time-consuming and ineffective in the diagnosis of most neurological disorders.

1 Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine,
Chulalongkorn University, Bangkok, 10330, Thailand
2 Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital,
the Thai Red Cross Society, Bangkok, 10330, Thailand
Correspondence to Kanya Suphapeetiporn (M.D., Ph.D.)
Division of Medical Genetics and Metabolism, Department of Pediatrics, Sor Kor Building 11 th
floor, Faculty of Medicine, Chulalongkorn University, Bangkok10330, Thailand. Tel: 662-256-4951;
Fax: 662-256-4911; E-mail: kanya.su@chula.ac.th

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