Posts By: Yannis Trakadis

Suboptimal cognitive functioning in Tyrosinemia I despite treatment?

Posted by & filed under Treatment.

A cross-sectional study was performed by  Bendadi et al. to assess the cognitive functioning of children with tyrosinemia type I under treatment (with nitisinone and protein-restricted diet) compared with their unaffected siblings. Intelligence was measured using age-appropriate Wechsler Scales. Average total IQ score in 10 patients with tyrosinemia type I receiving nitisinone was significantly lower […]

RNAi therapy in Transthyretin amyloidosis

Posted by & filed under _.

Transthyretin amyloidosis is caused by the deposition of transthyretin amyloid in peripheral nerves and the heart. RNA interference (RNAi) targeting messenger RNA transcribed from a disease-causing gene could theoretically be used in the management of the disease by reducing the production of transthyretin. Coelho et al. identified a potent antitransthyretin small interfering RNA, which was […]

Neonatal seizures

Posted by & filed under Part 28: NEUROGENETICS.

Neonatal seizures: Aetiology by means of a standardized work-up. Loman et al. Eur J Paediatr Neurol. 2014 Feb 17. PMID: 24630570 This study explored the incidence of different aetiologies of neonatal seizures in a real cohort of patients. All full-term born neonates from January 2002 till September 2009 with neonatal seizures, admitted to the local neonatal ICU were […]

De novo mutations in schizophrenia implicate synaptic networks.

Posted by & filed under _.

It is known that the genetic risk for schizophrenia is mostly accounted for by inherited alleles. However, recently, de novo mutations (large chromosomal copy number changes) have been shown to occur in a small fraction of cases and disproportionally disrupt genes encoding postsynaptic proteins. Fromer et al. demonstrated that small de novo mutations, affecting one […]

A polygenic burden of rare disruptive mutations in schizophrenia.

Posted by & filed under _.

Purcell et al. analysed the exome sequences of 2,536 schizophrenia cases and 2,543 controls and identified a polygenic burden primarily arising from rare, disruptive mutations distributed across many genes. The genes encoding voltage-gated calcium ion channel and the signalling complex formed by the ARC protein of the postsynaptic density were particularly enriched. A polygenic burden […]

External stressors reprogramming somatic to pluripotent cells

Posted by & filed under Tools, Treatment.

A new means of reprogramming somatic cells into pluripotent cells has been recently published by Obocata et al. in Nature. The method is called stimulus-triggered acquisition of pluripotency (STAP) and, in contrast to previous methods; it does not require nuclear transfer or genetic manipulation. Rather, STAP involves exposure of the cells to an external stressor […]

Duplications of 22q11.2 protect against schizophrenia?

Posted by & filed under _.

Rees et al analyzed a cohort of 47,005 individuals for large duplications (1.5-3.0Mb) at 22q11.2 -the reciprocal of the well-known, risk-inducing deletion of this locus. These duplications were found to be substantially less common in schizophrenia cases than in the general population (0.014% vs 0.085%, OR=0.17, P=0.00086). The authors suggest that duplications of the genomic […]

Genome editing in hemoglobinopathies?

Posted by & filed under Part 19: BLOOD.

Genome-wide association studies (GWAS) in Hemoglobinopathies have identified genes, other than the globin genes, as potential modulators of the pathology of these diseases. These potential modulators are thought to act by influencing the amounts of fetal hemoglobin (HbF). One of these genes is BCL11A. Bauer et al. characterized a common SNP in the BCL11A gene which […]

Newborn screening for pyridoxine-dependent epilepsy

Posted by & filed under Part 17: VITAMINS, Treatment.

LC-MS/MS based newborn screening for pyridoxine-dependent epilepsy (PDE) appears to be feasible based on Jung et al. (2013).  ?-AASA and P6C were measured retrospectively in original newborn DBS of five patients with PDE. Both compounds appeared to be significantly increased compared to samples from unaffected individuals (in newborn DBS stored at -20°C; but also in […]

Standardizing clinical info for research and diagnosis

Posted by & filed under _.

This article is describing an open source software for collecting and analyzing phenotypic information for patients with genetic disorders (PhenoTips). The PhenoTips’ user interface resembles clinician workflows to facilitate recording observations made during the patient encounter. It allows for efficient data entry, standardization of collected patient phenotypes, and sharing of anonymized patient phenotype data thus rendering it very useful […]