Genetic Diseases and Syndromes in Neurosurgery

Neurosurgical genetics is an evolving field, and the study of genetic diseases and syndromes in neurosurgery is at the forefront of efforts to reduce morbidity and mortality across a wide range of neurosurgical conditions. Cerebrovascular genetics, including aneurysm genetics, remains a central concern given its role in subarachnoid hemorrhage (SAH), but genetic and syndromic contributions extend well beyond the cerebrovascular system to encompass tumors, neurodevelopmental malformations, and other structural and functional disorders addressed by neurosurgeons. Despite significant advances in imaging and surgical interventions, the underlying genetic mechanisms that contribute to the development, progression, and clinical course of these conditions remain incompletely understood. Ongoing debates center on the interplay between hereditary factors, acquired risk, phenotypic variability, and pathological features, while significant studies have begun to identify the influence of specific genetic variants and syndromes and their association with clinical outcomes. However, knowledge gaps persist around population-specific genetic associations, gene-environment interactions, and the clinical application of genetic findings in both sporadic and familial cases.Recent breakthroughs have emerged from large-scale genome-wide association studies in humans, comparative studies in animal models, machine learning-driven genomic analyses, and the exploration of risk factors that modulate disease formation, progression, and rupture or recurrence. Notably, investigations have uncovered novel genetic loci and implicated diverse pathways in different ethnic groups and familial clusters, while technological advancements in artificial intelligence and genomics have accelerated gene discovery across neurosurgical disease categories. Despite these advances, there remains a critical need for integrative research that bridges basic genetic discoveries with clinical neurosurgical practice, explores the utility of genetic information in risk stratification and surgical decision-making, and addresses disparities across populations.This Research Topic aims to provide a comprehensive overview of the genetic underpinnings of diseases and syndromes relevant to neurosurgery, synthesizing data from pathology, risk assessment, gene discovery, and translational research. By assembling interdisciplinary perspectives, the Research Topic seeks to elucidate how genetic insights can inform clinical decision-making, improve patient stratification, and guide the development of targeted therapies—ultimately aspiring to achieve precision neurosurgical care.To gather further insights into the genetic architecture, risk factors, and clinical implications of genetic diseases and syndromes in neurosurgery, we welcome articles addressing, but not limited to, the following themes:• Pathology and morphology of cerebral and extracranial aneurysms• Genetic and non-genetic risk factors for SAH and aneurysm rupture• Genetic syndromes associated with neurosurgical tumors (e.g., neurofibromatosis, tuberous sclerosis, von Hippel-Lindau disease)• Neurodevelopmental and congenital syndromes with neurosurgical manifestations• Gene discovery using animal models and functional studies• Application of machine learning and artificial intelligence in gene identification• Population genetics and ethnicity-based studies in human cohorts• Familial and twin studies elucidating hereditary contributions• Comparative genomics of intra- and extracranial aneurysms• Genotype-phenotype correlations guiding surgical planning and prognosis• Genetic counseling and screening implications for neurosurgical patients and families Topic editors: Redi Rahmani, Anna Huguenard, Philipp Taussky Source: https://www.frontiersin.org/research-topics/76528/genetic-diseases-and-syndromes-in-neurosurgery