Autism spectrum disorder (ASD), developmental epileptic encephalopathies and other neurodevelopmental disorders are driven by the disruption of genes regulating neuronal proliferation, differentiation and synaptic maturation. Researchers from Shanghai Jiao Tong University School of Medicine generated Csnk2b haploinsufficient (Csnk2b+/-) mice mimicking the most relevant disease features to investigate the effects of reduced gene dosage.
Researchers at UCLA have shown that divergent neuronal signaling in fragile X mice converges on EPAC2, a druggable target whose inhibition restores circuit activity and alleviates core behavioral impairments.
A new systematic review and meta-analysis of studies looking at a possible association between Tylenol (acetaminophen) use in pregnancy and neurodevelopmental disorders in children concludes there is no evidence of any meaningful risk. The study was carried out by researchers in the U.K., Italy, Sweden and Norway, in response to U.S. Secretary of Health and Human Services Robert Kennedy saying last September that there is a link. Unless medically necessary, it is “irresponsible” to take Tylenol during pregnancy, Kennedy said.
Neurodevelopmental disorders related to protein phosphatase 2A (PP2A) have been recently renamed as Houge-Janssens syndrome and they are caused by heterozygous, de novo pathogenic genetic variants in the PPP2R5D, PPP2R1A or PPP2CA genes. The syndrome is characterized by features such as intellectual disability, autism, developmental delay, seizures or brain abnormalities, among others.
Researchers from Guangzhou Medical University and affiliated organizations presented data from a study that aimed to investigate the disease-causing mechanism of EP400, a gene that encodes the E1A binding protein p400, which is a core catalytic ATPase subunit of ATP-dependent chromatin remodeling complexes.
WD repeat domain 83 opposite strand (WDR83OS) encodes the 106-aa (amino acid) protein Asterix, which is a binding partner for CCDC47. More specifically, Asterix heterodimerizes with CCDC47 to form the protein associated with ER translocon (PAT) complex that specifically chaperones large proteins containing transmembrane domains.
Adherens junction-associated protein 1 (AJAP1) is a transmembrane protein that inhibits tumor cell migration and is a susceptibility gene for migraine. Recent hypotheses have pointed toward the potential involvement of AJAP1 in epilepsy and other neurological disorders.
Ractigen Therapeutics Co. Ltd. has entered into a formal collaboration with University Medical Center Utrecht, affiliated with Utrecht University, to advance the development of small activating RNA (saRNA)-based treatments for a spectrum of intractable neurodevelopmental disorders.
Stalicla SA announced the first close of a series B round at $17.4 million, which provides the means to complete preparations for both a phase III trial of the lead program, STP-7, in the treatment of cocaine misuse disorder, and of a phase II trial of STP-1 in autism spectrum disorder (ASD).
At the recent American Society of Human Genetics meeting, researchers from Stanford University reported clinical and functional evidence of the involvement of ARHGAP1, a Rho GTPase-activating protein (GAP) gene, in a patient exhibiting a syndromic neurodevelopmental disorder.
