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29 Oct, 14 | by hqqu

Inherited optic neuropathy can be isolated or syndromic and are associated with mutations in genes encoding proteins involved in various mitochondrial functions. We identified mutations in ACO2 encoding the mitochondrial aconitase, an enzyme of the tricarboxylic acid cycle, in five patients with optic atrophy isolated or associated with severe neurological signs. By using a yeast model we demonstrated that all these mutations were deleterious and observed a good correlation between severity of the clinical phenotype of patients and growth deficiency in yeast. These results illustrate the wide clinical expression associated with mutations in the same gene. (By Dr. Agnès Rötig, )JMG_Blog_v2

International requirements for consent in biobank research. Qualitative review of research guidelines

29 Oct, 14 | by hqqu

It is uncontroversial that, if any possible, biobank researcher should seek consent from the individuals whose biomaterials they use. However, a gold standard for consent procedures in Biobank research does not yet exist. Also research guidelines do not explicitly mention all potentially relevant issues for consent in biobank research. Based on a qualitative review of internationally-recognized research guidelines, we present a list of all 41 consent issues that are of potential relevance to biobank research. Furthermore, we explain similarities and differences between the analysed guidelines. Our findings can inform the balanced development and evaluation of consent forms, as well as the development and revision of corresponding research guidelines. (By Dr. Daniel Strech, )

Recent advances in primary ciliary dyskinesia genetics

29 Oct, 14 | by hqqu

This review presents the latest data on the relations between the genetic basis of primary ciliary dyskinesia (PCD) and improvement of its diagnosis. PCD is a rare disorder caused by mutations in one of many ciliary genes. The PCD diagnosis is challenging and requires a well described clinical phenotype combined with the identification of abnormalities in ciliary ultrastructure and beating pattern, as well as of the underlying genetic cause. New technologies available in the genetic studies have a great influence on the number of identified PCD-causative genes and mutations and this number is bound to rise. The current knowledge can already be used to create new genetic tests for PCD which can accelerate the correct diagnosis. (By Dr. Małgorzata Kurkowiak, )

Clinical, histological and genetic characterization of patients with tubular aggregate myopathy caused by mutations in STIM1

18 Oct, 14 | by hqqu

Tubular aggregate myopathies (TAM) are progressive muscle disorders characterized by abnormal accumulations of densely packed membrane tubules on biopsies. The implicated gene STIM1 controls intracellular calcium balance and plays an important role in the regulation of muscle contraction. Here we describe patients with new STIM1 mutations clustering the calcium-binding domain and impairing normal protein function. Patient phenotypes ranged from childhood onset muscle weakness to adult-onset myalgia without muscle weakness, expanding the spectrum associated with this muscle disorder. Our study indicates a genotype/phenotype correlation for tubular aggregate myopathies, and has an important diagnostic relevance. (By Dr. Johann Böhm, )


OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium

8 Oct, 14 | by hqqu

Pattern dystrophy (PD) of the retinal pigment epithelium is a slowly progressive genetically heterogeneous autosomal dominant disorder. As the name suggests, the disease manifests as changes in the retina that display a certain ‘pattern’. We performed genetic analyses in two families with PD; different approaches that included linkage analysis and whole exome sequencing were used. We identified a novel missense variant (E79K) in OTX2 gene to underlie PD in both families. OTX2 has been previously associated with developmental eye and pituitary anomalies in humans. Our work is the first to associate OTX2 to cause PD and shows that mutations OTX2 can also lead to progressive retinal diseases. (By Dr. Ajoy Vincent, )

Defining and managing incidental findings in genetic and genomic practice

16 Sep, 14 | by hqqu

Our review explored questions about the management and disclosure of incidental genomic findings—those discovered through whole-genome approaches, but unrelated to the question that was asked. We have discussed the various terms used for such findings; factors that determine disclosure; differences in clinical, research and commercial settings; and ethical/practical issues about familial implications and re-contacting testees. Our recommendations include that greater international consensus is developed around disclosure and management; findings are referred to in appropriately different ways according to context; clear consent processes are used, but the absence of consent should not always preclude disclosure; and ways to use the genome output as a resource, accessible over time, are identified, particularly to facilitate disclosure and re-contact when previously unclear findings are clarified. (By Dr Sandi Dheensa, )

Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis

2 Sep, 14 | by hqqu

This study identified a SLC17A9 missense variant c.932G>A in a DSAP family by exome sequencing. The c.25C>T variant in additional family supported an important role of SLC17A9 in DSAP.

SLC17A9 encoded a vesicular nucleotide transporter (VNUT), which contributed to ATP vesicle formation and ATP release regulation. The two identified variants located in major facilitator superfamily domain, general substrate transporter. This domain functioned as lycerol-3-phosphate transporter and it consists of 12 transmembrane helix.

The probable mechanism of mutated SLC17A9 in DSAP may be associated with delayed ATP efflux and calcium release into periplasm. (By Dr. Hongzhou Cui, )


The 2014 International Conference on Intelligent Biology and Medicine

29 Aug, 14 | by hqqu

The 2014 International Conference on Intelligent Biology and Medicine (ICIBM 2014)  will be held on December 4-6, 2014 in San Antonio, TX, USA. Submissions are invited with unpublished original work describing recent advances on all aspects of Bioinformatics, Systems Biology and Intelligent Computing, including, but not restricted to the following topics:



•Genomics And Genetics, Including Integrative & Functional Genomics, Genome Evolution

•Next Generation Sequencing Data Analysis, Applications, And Software And Tools

•Big Data Science Including Storage, Analysis, Modeling And Visualization

•Personalized Medicine And Translational Bioinformatics

•Drug Discovery, Design, And Repurposing

•Proteomics, And Protein Structure Prediction, Molecular Simulation And Evolution

•Image Analysis And Processing


Systems Biology:

•Modeling and simulation of biological processes, pathways, and networks

•Mathematical and quantitative models of cellular and multi-cellular systems

•Multi-dimensional omics data integration

•Synthetic biological systems


•Self-organization in living systems (cells, organisms, swarms, ecosystems, etc.)

•Applications of systems biology approaches to biomedical studies


Intelligent Computing:

•Machine learning, data mining, pattern recognition, and knowledge discovery

•Natural langue processing, literature mining, semantic ontology, data privacy

•Neural computing, kernel methods, feature selection/extraction

•Evolutionary computing, swarm intelligence / optimization, ensemble methods

•Manifold learning theory, artificial life and artificial immune systems


Important Dates

Deadline for paper submission  September 1st, 2014

Notification to authors of papers  October 1, 2014

Deadline for highlight paper submission October 1, 2014

Notification to authors of highlight paper October 15, 2014

Deadline for abstract submission October 8, 2014

Notification to authors of abstracts October 15, 2014

Conference early registration October 15, 2014

ICIBM conference December 4-6, 2014



Travel Awards

Up to 20 travel awards are available to students/postdocs funded by a NSF grant.


Victor Jin on behalf of ICIBM 2014 Organizing Committee


Genotype phenotype associations across the voltage-gated sodium channel family

27 Aug, 14 | by hqqu

Mutations in genes which code for sodium ion channel proteins have emerged as the most important genetic factors associated with epilepsy, cardiac rhythm disorders, skeletal muscle channelopathies and pain disorders. Geneticists in partnership with neurologists and cardiologists are often asked to comment on the clinical significance of specific mutations. Comparing over 1300 sodium ion channel mutations in diseases affecting the central and peripheral nervous system, heart and muscle, we have identified many similarities in genetic and clinical characteristics across this ion channel family. These findings should lead to a better understanding of the clinical significance of specific mutations, aiding geneticists and physicians in the interpretation of genetic variants and in counselling individuals and their families. (By Dr Andreas Brunklaus, )


Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy

25 Aug, 14 | by hqqu

Our study investigated the relationship between rare gene variants, clinical features and natural history in arrhythmogenic right ventricular cardiomyopathy. In particular, we explored the phenotype and outcome of rare variant carriers of the giant gene titin and desmosomal genes in a cohort of families with a long-term follow-up, up to 22 years. We found that desmosomal gene rare variant carriers were characterized by a severe prognosis and specific clinical and electrocardiographic features, while titin gene carriers had an intermediate outcome, supraventricular arrhythmias and severe conduction defects, information that may be useful in the clinical practice. (Drs. Francesca Brun and Luisa Mestroni for the authors, )


photo (4) copy

The two first authors, Francesca Brun , MD, and Carl Barnes, MD, presenting their work at the AHA meeting in Dallas, 2013.

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