Activated phosphoinositide 3-kinase δ syndrome type 1 (APDS1) is a rare disease caused by gain-of-function (GOF) mutations in the PIK3CD gene that presents with combined immunodeficiency due to decreases in IgA, IgG, naive CD4 and naive CD8 cells. Nearly all APDS1 patients suffer from recurrent respiratory tract infections with most presenting with bronchiectasis and chronic viral infections.
The autosomal dominant form of osteopetrosis, referred to as autosomal dominant osteopetrosis type 2 (ADO2), is caused by single allele dominant negative mutations of the CLCN7 gene. In a recent paper, researchers from Sisaf Ltd. detailed the development and preclinical evaluation of novel silicon stabilized hybrid lipid nanoparticles (sshLNPs), SIS-101-ADO, designed to deliver small interfering RNA (siRNA) specific against the human CLCN7 G215R mRNA.
Proteome analysis with artificial intelligence has made it possible to create a catalog of all possible missense mutations in the human genome to predict diseases.
Proteome analysis with artificial intelligence has made it possible to create a catalog of all possible missense mutations in the human genome to predict diseases. The new Alphamissense tool from the technology company Google Deepmind, available online, will allow scientists to refine diagnoses and design more tailored treatment strategies for patients suffering from pathologies associated with these variants.
A large-scale genetic study found 26 risk loci for epilepsy, a chronic brain disease with multiple forms, not all of them heritable. The work, by more than 300 authors from the International League Against Epilepsy (ILAE), investigated seven different subtypes of this neurological condition. “There are over 100 genes that we know can harbor mutations that cause epilepsy,” the co-corresponding author Gianpiero Cavalleri told BioWorld. These genes have rare forms that cause that epilepsy. However, “this particular GWAS is focused more on common forms of epilepsy,” he said.
“The size of a chromosome does not correlate with complexity of the sequences within,” Jackson Laboratory professor Charles Lee told BioWorld. Which is why the Y chromosome, which is the runt of the litter as far as human chromosomes are concerned, was the last to be fully sequenced. Now, 20 years after publication of the first near-complete human genome sequence and 16 months after the telomere to telomere (T2T) consortium announced it had completed “gapless assemblies for all chromosomes except Y,” of the human genome, it really is done.
Phenylketonuria (PKU) is an inborn error of metabolism caused by heritable phenylalanine hydroxylase gene mutations that result in decreased metabolism of phenylalanine (Phe) causing brain damage. The most severe phenotype termed PKU occurs when untreated individuals achieve plasma Phe concentrations of >1200 microM/L, which are neurotoxic.
By using machine learning techniques to scour electronic health records, researchers have identified individuals who were likely to have binge eating disorder (BED) but had not received a formal diagnosis. Genomewide association studies including such patients enabled the investigators to identify several risk variants that were correlated with BED irrespective of body mass index (BMI), which covaries with BED and is a potential confounding factor.
RSS
