A Study Exploring a New Mutation in Early-Onset Alzheimer’s Disease Alzheimer’s Disease (AD) is a common neurodegenerative disorder, accounting for 60-70% of all dementia cases. In recent years, with global population aging and environmental changes, the incidence of AD has been increasing annually. It is predicted that by 2050, the number of patie...

Preliminary Research Report on the Relationship between CYP46A1 Polymorphism and Suicide Risk Research Background Suicide, defined as the intentional act of ending one’s own life, is a major global public health issue. The incidence of suicide is higher among individuals with Major Depressive Disorder (MDD). However, the role of cholesterol in suic...

Association of NID2 gene single nucleotide polymorphisms with glioma risk and prognosis in Chinese Han population Academic Background Glioma is the most common primary intracranial tumor, characterized by high mortality and poor prognosis. Despite some progress in diagnostic and treatment strategies, conventional therapies have limited improvement ...

Neuromolecular Medical Research on Hereditary Leukodystrophy - A Research Report on the Discovery of a Novel ARSA Gene Mutation Research Background Hereditary leukodystrophies are a group of genetic disorders primarily affecting the white matter of the central nervous system. They encompass a wide range of conditions, mainly caused by enzyme defici...

Missense Mutation in AIFM1 Gene Leads to Mitochondrial Dysfunction and Riboflavin Deficiency Intolerance Research Background Mitochondria are double-membrane organelles found in eukaryotic cells with nuclei, primarily producing adenosine triphosphate (ATP) through oxidative phosphorylation to provide cellular energy. Mitochondria have their own gen...

Application of Quality Assurance in Future Advanced Sequencing Diagnostics Background Over the past decade, Next-Generation Sequencing (NGS) has made revolutionary progress in the diagnosis of Rare Neurological Diseases (RNDs). However, the lack of technical, interpretative, and reporting standards has posed challenges in ensuring consistent and hi...

Limitations of Next-Generation Sequencing-Based Genotyping for Breast Cancer Polygenic Risk Score Loci Background Introduction In the prediction of hereditary Breast Cancer (BC), Polygenic Risk Scores (PRSs) are increasingly being used as an important tool for individual risk prediction. The calculation of PRS relies on accurately reproducing varia...

Improving the Interpretation of PAX6 Gene Missense Variants Through Computational Methods Background The PAX6 gene is a highly conserved transcription factor that plays a crucial role in eye development. Heterozygous loss-of-function variants in PAX6 can lead to a range of ophthalmic disorders, including aniridia. However, many PAX6 gene missense v...

Structural Variant Detection and Clinical Interpretation in 6224 Unsolved Rare Disease Exomes Research Background The diagnosis and study of rare diseases have been significant challenges in genetics and clinical medicine. Structural variants (SVs), including large deletions, duplications, inversions, translocations, and more complex events, can di...

Dutch Pharmacogenetics Working Group Guideline for CYP2C9, HLA-A and HLA-B Gene-Drug Interactions with Antiepileptic Drugs Background Pharmacogenetics (PGx) studies how genetic variations affect individual drug responses, aiming to guide drug selection and dosing, optimize drug therapy, prevent adverse drug reactions, and achieve safer and more cos...