Posts by Sam Rose

Jeans for Genes Day: putting the spotlight on genetic diseases

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While not all rare diseases are genetic, individual genetic disorders are rare. But despite individual genetic disorders being rare, collectively they affect 1 in 25 children. Furthermore, 80% of rare diseases are caused by faulty genes. Therefore when we discuss genetic diseases it is in essence a discussion on rare diseases.

Today marks Jeans for Genes Day, a fundraising event organized by Genetic Disorders UK to raise money for causes that help children with genetic diseases. There are more than 6,000 known genetic disorders, and this number is constantly increasing as patient sequencing technologies become more accessible. Genetic diseases can affect a person’s senses, movement, ability to learn or appearance, and can range from split-hand/split-foot malformation, a congenital …

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Santa Fe loves mobile DNA

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The field of mobile DNA is currently a very exciting area of genetics and genomics research. It was once assumed that transposable elements were useless DNA sequences that incorporated into host genomes, forming ‘junk DNA’. In recent years, however, the significance of these genetic elements has been increasingly realized, with studies regularly being published hinting at the function of transposable elements in the host genome.

It seems that some of these suspected functions are damaging to the host, and others may even be beneficial; either way, the contribution of mobile elements to genome evolution is now a hugely interesting area, providing new insights into the evolutionary ‘arms race’ between organisms.

 

On March 9-14th, BioMed Central attended the Keystone meeting Mobile …

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Joining together for better care: celebrating Rare Disease Day 2014

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Rare Disease Day is an annual, awareness-raising event co-ordinated by the European Organization for Rare Diseases (EURORDIS), national alliances and patient organisations. Rare diseases are easily neglected, and this international advocacy day is important because everyone living with a rare disease should be able to receive high-quality services, treatment and support. Although these diseases are rare individually, collectively they are not, with 1 in 17 people being affected by a rare disease at some point in their life.

The theme of Rare Disease Day 2014 is “care”, with a focus on encouraging the rare disease community to join together for better care,  from practitioners to policymakers, social services to scientists, policy makers, …

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Proceedings from the 39th Indian Society of Human Genetics conference

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The proceedings from the International Conference on Human Genetics and 39th Annual Meeting of the Indian Society of Human Genetics have been published as a supplement in Molecular Cytogenetics. The meeting took place on the 22-25 January, 2014, in Ahmedabad, India.

Former President of India, Dr A. P. J. Abdul Kalam, inaugurated the conference, and can be seen handing the journal supplement to the Molecular Cytogenetics Co-Editor-in-Chief Thomas Liehr (Friedrich Schiller University, Jena, Germany).

From left: Prof. Jayesh Sheth (head of FRIGE’s Institute and organizer of this annual meeting); Hon’ble Former President of India Dr A P J Abdul Kalam; Mr. Akshay Saxena (Mission director, Gujarat State Biotech Mission); Prof. Alok Dhawan …

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One to three men fathered most western Europeans

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A recent study published in Investigative Genetics has shown that the genetic lineage of most Western Europeans started from just one to three men, sparking many and varied online discussions.

The study, led by Chris Tyler-Smith, involved producing a model to investigate the expansion of Neolithic genetic lineages throughout Africa and Europe. Both Africa and Western Europe have a predominant genetic lineage, or haplogroup, and genetic and archaeological evidence show that both of these haplogroups expanded in their respective populations during the Neolithic period (from about 10,000BC to 3000BC).

The haplogroups investigated in this study are variations of the Y chromosome, only present in men. Using advanced sequencing tools it was therefore possible to produce a model …

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‘Non-coding RNA’ thematic series – call for submissions

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Epigenetics & Chromatin is inviting submissions for a thematic series on non-coding RNA, edited by Frank Grosveld (Erasmus University Medical Center, Netherlands) and Steven Henikoff (Fred Hutchinson Cancer Research Center, USA).

This article collection focuses on understanding the mechanisms of non-coding RNA, describing insights into the biogenesis and activity of non-coding RNAs, their interaction with chromatin, and novel methods for analysis and manipulation of RNA-mediated regulation.

The thematic series is open for the submission of Research articles on all aspects of non-coding RNA, including novel findings related to long-, short- and micro- RNAs. Articles already published in the series include an insight into the silencing mechanism by the long non-coding RNA XIST that …

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Journal of Biological Research-Thessaloniki is now open for submissions!

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Journal of Biological Research-Thessaloniki (Impact Factor 0.62) is a peer-reviewed, open access, international journal that publishes articles providing novel insights into the major fields of biology. The journal has transferred to publishing with BioMed Central after being self published since 2004, and is now accepting submissions via the new website. All back content can be found in the archive.

Topics covered in Journal of Biological Research-Thessaloniki include, but are not limited to: molecular biology, cytology, genetics, evolutionary biology, morphology, development & differentiation, taxonomy, bioinformatics, physiology, marine biology, behavior, ecology and conservation. The journal will consider original Research, Reviews, Short Reports and Hypotheses that present novel findings advancing any field of biology. In addition, the journal will …

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Expert insights into epigenetic interactions and processes

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To mark the BioMed Central conference Epigenetics & Chromatin: Interactions and processes that took place in Boston earlier this year, the open access journal Epigenetics & Chromatin has published a series of review articles that focus on addressing some of the biggest questions in epigenetics today.

 

The final review of the series, by Anton Wutz (ETH Zurich, Switzerland), has been published today, discussing how haploid genomes illustrate epigenetic constraints and gene dosage effects in mammals. In this review the authors, who have significantly advanced our understanding of haploidy in mammals, provide an insightful summary of systems available to study haploid genomes.

 

Other reviews in the series include a description of the role of the …

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DNA fingerprinting series: a tribute to Professor Sir Alec Jeffreys

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Alec Jeffreys

Professor Sir Alec Jeffreys invented the technique of DNA fingerprinting in 1984, a technique that changed forensic science forever. To mark his retirement in 2012 from the University of Leicester, Investigative Genetics has published a series of articles today that discuss DNA fingerprinting, the impact it’s had in divergent fields, and the man himself.

 

The series launch articles include an introductory editorial by the Editors-in-Chief Manfred Kayser, Antti Sajantila and Bruce Budowle; an personal opinion piece by Mark Jobling on the DNA fingerprinting story; and two reviews outlining the past, present and future of DNA fingerprinting in

forensics (by Lutz Roewer) and in anthropological genetics (by Michael Crawford …

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Mobile DNA welcomes two new co-Editors-in-Chief

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We are very pleased to announce that  Dr Henry Levin and Dr Cedric Feschotte have recently been appointed as co-Editors-in-Chief of Mobile DNA, working alongside Nancy Craig (Johns Hopkins University School of Medicine, USA) and Thomas Eickbush (University of Rochester, USA).

Dr Levin heads the Section on Eukaryotic Transposable Elements in the Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, USA, which analyzes LTR retrotransposons as a model for the replication of retroviruses. Over the past 18 years Levin’s studies of LTR retrotransposons in fission yeast identified mechanistic details of particle formation, reverse transcription, and integration.

 

 

 

 

 

Dr Feschotte is an Associate Professor of Human …

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