Topic: Patient-derived iPSCs

Neurodevelopmental disorders (NDDs) are a heterogeneous group of syndromes that typically manifest early in development. NDDs are characterized by intellectual disability/developmental delay (ID/DD) and resulting cognitive deficits. In our studies, we focus on Witteveen-Kolk Syndrome (WitKoS) characterized by mild ID, growth and feeding difficulties, autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) and some types of language developmental delay (Balasubramanian et al., 2021). This syndrome is caused by heterozygous loss-of-function mutations in SIN3A, a gene t

Parkinson’s Disease (PD) is a neurodegenerative disorder characterised by progressive and selective neuronal loss of specific brain regions, including brainstem and cortical regions. Mutations and/or deletions in specific genes result in a high probability of developing PD characterised by distinct presentation. For example, complete loss of parkin function (PRKN KO) causes early onset PD and motor deficits due to the ventral midbrain dopaminergic neurons (VmDA) degeneration. Patients with disease-causing mutations in SCNA and LRRK2 genes show a widespread pathology with high aggregate burden

Brown–Violette–Van-Laere syndrome (BVVLS) is a childhood-onset motor neuron disorder. Autosomal recessive mutations in riboflavin transporter genes can be identified in half of the patients, and the genetic cause is not known for the rest. Recently, we performed whole exome sequencing in a family with five siblings diagnosed with BVVLS and identified an autosomal recessive missense variant in the KIF13A gene that codes for a kinesin motor protein. In this study, we aimed to explore the role of KIF13A in motor neuron degeneration.We first transfected 293T cells with wild-type (WT) and mutant (M