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2013-04-12 00:38:51 (0 comments, 0 reshares, 1 +1s)

"Fragile X syndrome is the most common inherited cause of intellectual impairment, formerly termed mental retardation, and is the leading known single-gene cause of autism spectrum disorder. The United States Centers for Disease Control and Prevention estimates that about 1 in 4,000 males and females have the disorder. The condition is caused by a mutation in a single gene, FMR1, found on the X chromosome."

2013-04-09 01:01:00 (0 comments, 0 reshares, 0 +1s)

A gene called “mindbomb 1″ may be involved in repairing injured cells in the stomach and pancreas, report researchers, who say it may be linked to cancers of those organs.

2013-03-26 00:51:26 (0 comments, 0 reshares, 1 +1s)

Venezuela join the Project - The Human Variome Project is pleased to announce that Venezuela has joined the international Project as an HVP Country Node. The HVP Venezuelan Node is a combined initiative of the Venezuelan Genetics Society and several academic and research institutions actively involved in the field of human and medical genetics.

 
The Venezuelan Node was established in the Hospital de Clìnicas Caracas- Unidad de Genética , Hospital Vargas de Caracas, E... http://ow.ly/2vJ2mk

2013-03-21 01:28:53 (0 comments, 0 reshares, 0 +1s)

“We wanted the ability for someone to give a head to toe description of a patient, as deep as they knew, in a way that would then be searchable.”

2013-03-12 22:16:08 (0 comments, 0 reshares, 1 +1s)

Tarantula venom as a potential treatment for a genetic disorder...not one for the arachnophobes I guess.

2013-02-25 00:24:20 (0 comments, 0 reshares, 0 +1s)

2013-02-25 00:15:03 (0 comments, 0 reshares, 0 +1s)

2013-01-21 01:52:12 (0 comments, 0 reshares, 1 +1s)

Great coverage of the Human Variome Project Malaysian Node in the New Straits Times yesterday.

2013-01-21 01:37:35 (1 comments, 0 reshares, 0 +1s)

DNA: not just double-stranded anymore...

2013-01-10 23:23:00 (0 comments, 0 reshares, 0 +1s)

Combining Monty Python and Prof. Brian Cox? Genius move by the BBC.

2013-01-10 22:48:34 (0 comments, 0 reshares, 0 +1s)

This method of sampling foetal DNA has been around for a while, but now it has been shown to be just as effective as the more invasive, traditional techniques like amniocentesis. If these results hold up, the implications for prenatal screening and diagnosis are huge.

2013-01-10 22:43:21 (0 comments, 0 reshares, 0 +1s)

While we don't want to start up a debate about the evolution of language, this article does raise a good point: the misuse of scientific terms, either intentionally or by accident, does make it more difficult to communicate accurately to non-scientists. Thoughts?

2012-11-30 00:38:47 (0 comments, 0 reshares, 2 +1s)

HVP and the World Health Organisation: a call for participation http://ow.ly/2ttVR9

2012-09-12 23:16:39 (0 comments, 0 reshares, 0 +1s)

http://newsroom.melbourne.edu/news/n-902

2012-08-18 02:40:09 (0 comments, 0 reshares, 1 +1s)

Check out this quick little video over at Scientific American on genes and how they influence our behaviour.http://ow.ly/d1RXl

2012-08-17 04:45:09 (0 comments, 0 reshares, 0 +1s)

The EU has approved a gene therapy treatment for the first time. http://ow.ly/d1S5d

2012-08-17 02:05:15 (0 comments, 1 reshares, 0 +1s)

HVP Consortium member Melissa Southey from the University of Melbourne explains the Human Genome Project. http://ow.ly/d1RJt

2012-08-17 01:50:19 (0 comments, 0 reshares, 0 +1s)

Move over mice, dogs are the new model organism. Wait...what?
http://ow.ly/d1Ry9

2012-08-17 01:25:14 (0 comments, 0 reshares, 0 +1s)

Some good news and some bad news in this...but of course it's not the end of the story. This will be in the courts for a while.
http://ow.ly/d1RrK

2012-08-17 00:36:31 (0 comments, 0 reshares, 0 +1s)

2012-08-17 00:09:54 (0 comments, 0 reshares, 0 +1s)

There's a fascinating article, video and podcast over at +Nature News & Comment on a study that maps the genetic roots of food preference and the senses that contribute to it.

2012-08-16 01:40:09 (0 comments, 2 reshares, 1 +1s)

“A number of genes and environmental factors have been shown to be involved in autism, but this study points to a mechanism—how one gene defect may trigger this type of neurological behavior.” http://ow.ly/d07ya

2012-08-15 23:36:16 (0 comments, 0 reshares, 0 +1s)

"The finding has important clinical implications because it suggests that several existing drugs may be effective in treating breast cancers with missing NF1. It also suggests that the commonly used breast cancer drug tamoxifen could make the disease worse in these specific cancers."

2012-07-27 06:31:46 (0 comments, 1 reshares, 1 +1s)

At this year's American Society of Human Genetics meeting in San Francisco we're holding a satellite meeting that will be tackling the difficult, but important issue of describing phenotype in a systematic way.

2012-07-19 23:32:40 (0 comments, 0 reshares, 1 +1s)

Ever wondered who Gregor Mendel is, or how modern genetics got its start? Sir Paul Nurse, 2001 Nobel Laureate, gives a great primer on genetics in this lecture at the Royal Institution.

2012-07-19 23:24:13 (0 comments, 0 reshares, 0 +1s)

2012-07-18 00:37:20 (0 comments, 1 reshares, 1 +1s)

"Is it ethical for genetic counselors, who advise patients on whether to undergo testing, to be paid by the companies that perform the tests?"

2012-07-13 01:54:19 (0 comments, 0 reshares, 0 +1s)

2012-07-09 05:47:19 (0 comments, 0 reshares, 1 +1s)

2012-07-05 00:08:53 (0 comments, 0 reshares, 2 +1s)

With the discovery of the Higgs Boson yesterday, we thought we'd bring you some news of an interesting intersection between particle physics and molecular biology: using DNA to detect Dark Matter.

2012-07-02 00:16:39 (0 comments, 0 reshares, 0 +1s)

2012-07-02 00:10:12 (0 comments, 0 reshares, 0 +1s)

2012-06-01 00:12:44 (0 comments, 0 reshares, 0 +1s)

Just a little bit of news this morning. Oh, wait. This is BIG! Welcome to the US of A.

2012-05-31 23:30:56 (0 comments, 0 reshares, 0 +1s)

Vítejte Česká republika!

2012-05-31 23:30:14 (0 comments, 0 reshares, 0 +1s)

The Australian state of New South Wales is proposing a change to laws around disclosing genetic information to family members. This is a thorny ethical question. Do the collective potential benefits to the extended family outweigh the right to privacy of the individual patient?

2012-05-29 00:01:12 (0 comments, 0 reshares, 0 +1s)

2012-05-21 02:12:12 (0 comments, 0 reshares, 0 +1s)

"By sequencing more people more thoroughly than ever before, researchers have affirmed that rare genetic variants — those carried by fewer than five people in a thousand — are widespread and likely to have an important role in human health."

2012-05-21 02:11:37 (0 comments, 0 reshares, 0 +1s)

2012-05-14 23:36:12 (0 comments, 0 reshares, 0 +1s)

Daniel MacArthur over at Genomes Unzipped takes on some of the alarmists who maintain that costs for the analysis of whole genomes will continue to balloon.

2012-05-06 23:48:16 (0 comments, 0 reshares, 1 +1s)

2012-05-04 04:08:20 (0 comments, 0 reshares, 0 +1s)

2012-05-04 00:31:03 (1 comments, 0 reshares, 0 +1s)

2012-05-04 00:30:36 (0 comments, 0 reshares, 0 +1s)

Ever wondered what an 'ome' is?

2012-04-26 01:24:48 (0 comments, 0 reshares, 0 +1s)

"Researchers have found that children who are physically abused and bullied tend to have shorter telomeres—structures at the tips of chromosomes whose shrinkage has been linked to aging and disease." If true, then this is fascinating, yet extremely troubling.

2012-04-26 00:59:33 (0 comments, 0 reshares, 1 +1s)

Need an easy to understand primer on genetics? Head on over to Khan Acadamy who have partnered with 23andme to produce this four part video series.

2012-04-23 03:33:59 (0 comments, 0 reshares, 0 +1s)

Confused about which sequencer to put on your Christmas wish-list? This paper in Nature Biotechnology has you covered.

2012-04-23 03:32:31 (0 comments, 0 reshares, 0 +1s)

Artificial DNA is now easier to make in large quantities thanks to the creation of enzymes able to replicate XNAs.

2012-04-13 01:46:28 (0 comments, 0 reshares, 0 +1s)

Science is reporting on the intriguing response by the NIH to the recently published paper that demonstrates that individuals with data held in Gene Expression databases can be identified if you have a sample of their DNA. The response is markedly different from the response 4 years ago when similar discoveries were made concerning pooled SNP data.

The new study's author's comments are also interesting. "...there may be no way to protect privacy "[of individual genetic data]." Interesting, concerning or obvious? As Hamlet was fond of saying, "That is the question."

2012-04-04 01:28:02 (1 comments, 0 reshares, 0 +1s)

This article raises some very good points about the current utility of WGS as a predictor of disease risk. But what happens when we know more about what changes cause what diseases...well, the predictive value will increase surely.

2012-04-03 23:59:50 (0 comments, 0 reshares, 0 +1s)

Registrations for the 4th Biennial Human Variome Project Meeting are still open and with just over a week until the Earlybird discount is over, why not register today?