Genetic Sequencing

dna sequencing

NGS Detects Structural Variants in Diseases Including LAL-D and Pompe Disease

Next-generation sequencing (NGS) may be a useful tool for the detection and diagnosis of lysosomal storage diseases (LSDs) including lysosomal acid lipase deficiency (LAL-D) and Pompe disease. According to a review article published in Biomedicines, as NGS technologies advance and become more available, they offer faster, cheaper, and higher-resolution testing options to identify point mutations,…

genetic testing

Large Hemophilia Genotyping Project Sheds Light on Factors Affecting Disease Severity

Hemophilia genotyping is a high-yield test, with reportable variants identified in more than 98% of patients with type A and B disease. This is the conclusion of the largest hemophilia genotyping project to date, called MyLifeOurFuture. “Our findings support the need for comprehensive genotyping approaches in order to accurately detect the presence of multiple variants…

Newly Developed Multiplex Network Could Improve Rare Disease Research

Researchers in Austria developed a multiplex network by mapping genes and their interactions on multiple levels, which can help better identify genetic defects and study their consequences.  To build the network, the team led by Jörg Menche, PhD, adjunct principal investigator at the CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences…

DNA gel close-up

Genetic Variant Identified as a Cause of Childhood-Onset PAH

Researchers identified a new biallelic variant in the ATP13A3 gene that causes dose-dependent childhood-onset pulmonary arterial hypertension (PAH) associated with high morbidity and mortality. This finding has implications in terms of disease prognosis and treatment strategies. The authors of the study, published in the Journal of Medical Genetics, stated, “Taken together, these findings demonstrate the…

Genetic research

Molecular Genotyping Widely Used Across Europe for Aggressive Thyroid Cancers

A survey conducted by a group of European researchers found that most respondents from European countries regularly used gene sequencing in rare thyroid cancers such as medullary thyroid carcinoma, according to a poster presented at the European Society for Medical Oncology (ESMO) Congress 2021. This is despite the fact that selective targeted therapies may not…

MD Therapies

DNA Sequencing May Be a Useful Tool in Diagnosing Pompe Disease

Canadian researchers proposed that DNA sequencing followed by a dried blood spot acid alpha-glucosidase activity assay represents the best method for diagnosing Pompe disease, in view of the widespread availability of molecular testing, according to a study published in the Journal of Clinical Medicine.  “Pompe disease is an autosomal recessive disorder caused by pathogenic variants…

Genes Associated With Grey Matter Atrophy in Multiple Sclerosis

Grey matter atrophy in multiple sclerosis (MS) could be caused by the combined effect of several genes, according to the authors of a study recently published in the Journal of Neurology. “These results provide potential neurobiological pathways that account for [grey matter volume] reduction and cognitive decline in MS patients,” the authors wrote. Understanding the…

sma genetics

Genotype-Phenotype Association in Pompe Disease

Researchers have identified 3 new compound heterozygous Pompe disease patients with symptoms starting in childhood. One of them had a genetic modification that lowered the activity of the acid alpha-glucosidase (GAA) enzyme, while the others had modifications that acted on processes downstream of GAA enzyme activity. The most common genetic mutation causing Pompe disease is…

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