Uncovering Hope for Rare Neurodegenerative Diseases
Shih Lab is a research laboratory that is dedicated to advancing the understanding of rare neurodegenerative diseases. We employ the latest cutting-edge technology to help us identify and study potential cures for these diseases so that we can work towards groundbreaking medical advancements. Our team is motivated and committed to exploring every avenue of research to better understand these diseases and, ultimately, to find new treatments that can improve the lives of our loves.
Research projects
01
4H Leukodystrophy
4H leukodystrophy is a rare genetic disorder that affects the white matter of the brain, leading to its progressive degeneration. This disorder is characterized by four significant symptoms: hypomyelination, hypodontia, and hypogonadotropic hypogonadism. Its symptoms usually develop during infancy or early childhood and include developmental delays, motor impairments, seizures, and cognitive decline. The disorder is caused by mutations in genes such as POLR3A, POLR3B, POLR3K, POLR3G, and POLR1C, which disrupt the function of RNA polymerase III, crucial for cellular processes. Due to it is incurable severity, our research team is focusing on generating zebrafish models to understand the pathological mechanisms of the disorder better. We also conduct compound screening to discover therapeutic drugs for individuals and families with rare genetic conditions.
03
Gene variant validation
Validation of gene variants is a crucial aspect of scientific inquiry, which ensures the accurate interpretation of genetic data. Various rigorous methodologies, such as PCR, Sanger sequencing, and next-generation sequencing, are utilized to identify and confirm these variants. Functional assays are also important as they help in understanding the effects of these variants on gene expression, protein function, and cellular pathways. The validation processes help maintain data integrity, thereby enabling robust conclusions in the field of genomics research and clinical diagnostics.
02
Wolfram syndrome type II
Wolfram syndrome, also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), is a rare autosomal recessive neurodegenerative disorder characterized by juvenile-onset diabetes mellitus and progressive optic atrophy. It is caused by mutations in the WFS1 gene (WS1), which encodes the protein Wolframin, and in some cases, by mutations in the CISD2 gene (WS2). The syndrome presents a broad spectrum of clinical manifestations, including diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, with additional features such as neurodegeneration, renal anomalies, and primary gonadal atrophy. Unfortunately, there is currently no cure for WS2. Our team aims to uncover the pathological mechanisms for discovering therapeutic drugs.
04
Gene function in neural development
Gene function in neural development orchestrates the construction of the central nervous system. Genes regulate crucial processes like cell proliferation, migration, and synapse formation. They specify neuronal cell types, ensuring precise neural circuit assembly. Dynamic gene expression refines connections, guiding axons and modulating synapses for adaptability and learning. Dysregulation leads to neurodevelopmental disorders. Understanding gene roles illuminates brain complexity and disorder origins, offering therapeutic avenues.
