Posts By: Yannis Trakadis

MAOA & COMT polymorphisms modifying psychiatric symptoms in Huntington’s

Posted by & filed under Part 28: NEUROGENETICS.

A cohort of Danish CAG repeat-expansion carriers in HTT gene, diagnosed with Huntington’s disease (HD), was recently published by Vinther-Jensen et al. (2015). This study focused on symptom complexes and searched for modifiers of cognitive impairment and psychiatric symptoms. Based on the results of Vinther-Jensen et al., cognitive impairment and psychiatric symptoms in HD are […]

Progress in nanopore technology

Posted by & filed under Exome sequencing, In the news, Part 06: DIAGNOSTIC APPROACHES, Tools.

Feng et al. (2015) recently reviewed the progress in nanopore technology from the past as well as the latest advances. They describe the different types of nanopores and discuss recent and potential applications. Nanopore-based sequencers have the potential to quickly and reliably sequence the entire human genome “for less than $1000, and possibly for even […]

Tissue-based map of the human proteome

Posted by & filed under Tools, Websites.

Ulen et al. used an integrative omics approach to study the spatial human proteome. Samples representing all major tissues and organs in the human body were analyzed based on 24,028 antibodies corresponding to 16,975 protein-encoding genes, complemented with RNA-sequencing data for 32 of the tissues. A genome-wide analysis of the tissue specificity of RNA and […]

CRISPR tool (treatment & mutations assessment)

Posted by & filed under Tools, Treatment.

CRISPR-Cas9-based genome editing enables the rapid genetic manipulation of any genomic locus without the need for gene targeting by homologous recombination. It can be used in the search for new treatment modalities, e.g. studies focusing on the identification of physiological targets of drugs and bioactive small molecules (Zhu et al. 2015; Kasap et al 2014). One of the […]

Genomics to accelerate diagnosis of IEM

Posted by & filed under Part 06: DIAGNOSTIC APPROACHES, Tools.

Stranneheim et al. demonstrated how Massively parallel DNA sequencing (MPS) can aid in the diagnosis and early intervention of patients with Inborn Errors of Metabolism (IEM). Their method focuses on analysing pulsed whole genome sequence data in real time, using automated analysis combined with data reduction and parallelization. The genes targeted are 474 disease genes […]

HSCT transplantation in patients with CVID

Posted by & filed under Part 20: IMMUNE AND DEFENSE SYSTEMS.

Wehr et al explored the outcomes of hematopoietic stem cell transplantation (HSCT) in patients with Common variable immunodeficiency (CVID). Based on retrospective data collected from 14 centers worldwide, 25 patients with CVID, who received HSCT between 1993 and 2012, were identified. These patients’ ages ranged from 8 to 50 years at the time of transplantation. […]

Natural history of Leigh disease


Leigh syndrome is a neurodegenerative disease associated with primary or secondary mitochondrial dysfunction at the level of oxidative phosphorylation. Sofou et al. published a retrospective study describing patients with Leigh syndrome (n=130; 77 with pathogenic mutations) from eight European centers specializing in mitochondrial diseases. They described the natural history of Leigh syndrome and identified novel […]

Combined cysteamine bitartrate and N-acetylcysteine for NCL

Posted by & filed under Part 16: LYSOSOMAL DISORDERS, Treatment.

Levin et al (2014) recently reported on a study exploring the impact of combined oral cysteamine bitartrate (60 mg/kg per day) and N-acetylcysteine (60 mg/kg per day) in patients with neuronal ceroid lipofuscinosis (n=10, age range: 6 months to 3 years old). Assessments took place every 6-12 months until the patients had an isoelectric EEG […]

Antisense therapy in Galactosemia

Posted by & filed under Part 07: CARBOHYDRATES, Treatment.

Mutational analysis of patients with galactosemia Portugal revealed the intronic variation c.820+13A>G as the second most prevalent mutation. Coelho et al. functionally characterized this intronic variation and studied its pathogenic mechanism. Minigene splicing assays in two distinct cell lines and patients’ transcript analyses showed that the mutation activates a cryptic donor splice site, inducing an […]

zebrafish as a model for IEM research

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Wager et al. provide an interesting overview of how zebrafish can be used as a model for inborn errors of metabolism to understand their mechanistic basis. Available methods for creating and studying zebrafish disease models, advantages and disadvantages of using this model organism, novel mechanistic insights already provided using this model, and successful examples of […]