University of Oxford scientists have presented data from deep proteomics of cerebrospinal fluid (CSF) in search of proteins with diagnostic or prognostic value in amyotrophic lateral sclerosis (ALS). Analysis was performed using CSF samples from 40 ALS patients, 15 controls (healthy individuals) and 8 mimicking conditions.
It is known that heterozygous mutations in the HBB gene, which encodes β-globin, are the cause of inherited β-thalassemia. A new case report describes a novel frameshift mutation in the HBB gene leading to a dominant form of β-thalassemia.
Researchers have defined an amyotrophic lateral sclerosis (ALS) reversal phenotype as having an initial diagnosis of ALS but subsequently showing a progressive and sustained clinical improvement, based on an unusual case they found.
MicroRNAs (miRNAs) play an important role in modulating neuronal stress responses, but their impact on neuroprotection has been poorly studied. Multiple sclerosis (MS) is the most common inflammatory disease affecting the central nervous system. Researchers have recently attempted to identify potential miRNAs that play a protective role in neuroinflammation.
Researchers from The Brigham and Women's Hospital presented data from a study that aimed to evaluate the role of somatic variants in drug-resistant mesial temporal lobe epilepsy (MTLE). High-coverage whole-exome sequencing was conducted using DNA samples derived from the hippocampus and paired brain tissue and/or blood samples.
CAMK2B encodes calcium/calmodulin-dependent protein kinase type II subunit β, a kinase expressed in the brain that has an important role in synaptic plasticity. Genetic variations are associated with neurodevelopmental disorders.
The GOBACK study analyzed germline susceptibility in children with birth defects and a cancer diagnosis, including a total of 47 probands. Whole-genome sequencing was performed, and researchers evaluated single-nucleotide variants, insertion/deletion variants, as well as copy number variations.
While the human epididymis protein 4 (HE4) has been previously identified as a blood biomarker of fibrosis, the relationship HE4 has with other blood biomarkers has not been established.
Inborn errors of immunity comprise a group of several diseases, the most severe of which are immunodeficiency disorders. The latter are characterized by defective T-cell functioning leading to impaired immunity.
Researchers from the University of Lausanne and affiliated organizations recently presented data from a study that aimed to identify novel candidate causative genes of visual impairment.
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