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Posts Tagged ‘Genetic testing’

Personal freedom of genome access vs. innovation-crushing government regulation

Posted in Uncategorized, tagged , , on July 23, 2010 | Leave a Comment »

Image via Wikipedia Pointer to Daniel MacArthur’s (Genomes Unzipped) post on the recent political grandstanding in consumer genetics. This blog is more genomes, brains, social entrepreneurship and health 2.0 – than politics.   Hopefully the political phase will soon pass and some sensible regulations will preserve the right of consumers to access their genomes, while protecting [...]

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echoblog: Dad, Mom ‘n kids go all-in for full sequence

Posted in Uncategorized, tagged , , , , on April 22, 2010 | Leave a Comment »

Image via Wikipedia just a pointer to: Genetic Future’s pointer to the recent article, “Family become first to have DNA sequenced for non-medical reasons“.    The father suggests, “it will be ethically improper if you don’t have your children sequenced“. Early days.

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Bigger genetic studies, more missing heritability

Posted in Chromosome structural variants, Intronic or repetitive sequences, Uncategorized, tagged , , , , , , , , , , , , , , , on April 5, 2010 | 1 Comment »

Twin studies have long suggested that genetic variation is a part of healthy and disordered mental life.  The problem however – some 10 years now since the full genome sequence era began – has been finding the actual genes that account for this heritability. It sounds simple on paper – just collect lots of folks [...]

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Genes in the brain are like genes in muscles

Posted in Basal Ganglia, Caudate nucleus, DAT, Dopamine, Putamen, Substantia nigra, Subthalamic nucleus, tagged , , , , , , , , , , , , , , , , on March 5, 2010 | 1 Comment »

Image by theloushe via Flickr ** PODCAST accompanies this post** I have a little boy who loves to run and jump and scream and shout – a lot.  And by this, I mean running – at full speed and smashing his head into my gut,  jumping – off the couch onto my head,  screaming – [...]

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A look inside brains that carry (my) genetic risk for autism

Posted in CNTNAP2, Cerebellum, Frontal cortex, Frontal pole, Fusiform gyrus, Rostral fronto-occipital fasciculus, Thalamus, White matter, tagged , , , , , , , , , , , , , , , , , on March 5, 2010 | Leave a Comment »

Image via Wikipedia The A-to-T SNP rs7794745 in the CNTNAP2 gene was found to be associated with increased risk of autism (see Arking et al., 2008).  Specifically, the TT genotype, found in about 15% of individuals, increases these folks’ risk by about 1.2-1.7-fold.  Sure enough, when I checked my 23andMe profile, I found that I’m [...]

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Genetic road signs for super-size coffee SUV drivers

Posted in ADORA2A, DRD2, Uncategorized, tagged , , , , , , , , , , , , , , , , , on March 4, 2010 | Leave a Comment »

If you’re a coffee drinker, you may have noticed the new super-sized portions available at Starbucks.  On this note, it may be worth noting that caffeine is a potent psychoactive substance of which – too much – can turn your buzz into a full-blown panic disorder.  The Diagnostic and Statistical Manual for psychiatry outlines a [...]

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APOE and the silent brain speak loudly of our destiny

Posted in Cingulate cortex, Hippocampus, Temporal lobe, tagged , , , , , , , , , , , , , , , , on January 22, 2010 | Leave a Comment »

e. e. cummings via last.fm ***PODCAST ACCOMPANIES THIS POST*** In his undergraduate writings while a student at Harvard in the early 1900′s E. E. Cummings quipped that, “Japanese poetry is different from Western poetry in the same way as silence is different from a voice”.  Isabelle Alfandary explores this theme in Cummings’ poetry in her [...]

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On the genetics of epigenetics (part un)

Posted in Uncategorized, tagged , , , , , , , , , , , on January 5, 2010 | 3 Comments »

Last year I dug a bit into the area of epigenetics (indexed here) and learned that the methylation (CH3) and acetylation (OCCH3) of genomic DNA & histones, respectively, can have dramatic effects on the structure of DNA and its accessibility to transcription factors – and hence – gene expression.  Many of the papers I covered [...]

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SLC1A1 SNPs as tiny deliveries on payment of big promise

Posted in SLC1A1, tagged , , , , , , , , , , , , , , , on December 15, 2009 | Leave a Comment »

Image via Wikipedia In their forecast “The World in 2010” special issue, the Economist points to “The looming crisis in human genetics” wherein scientists will reluctantly acknowledge that, even with super-cheap genome sequencing tools, we may not soon understand how genetic variation contributes to complex illness.  The argument is a valid one to be sure, [...]

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Reciprocal genetics of autism vs. schizophrenia

Posted in Chromosome structural variants, Intronic or repetitive sequences, tagged , , , , , , , , on December 7, 2009 | 1 Comment »

The recent paper, “Comparative genomics of autism and schizophrenia” by Bernard Crespi and colleagues provides a very exciting take on how genetic data can be mined to understand cognitive development and mental illness.  Looking at genetic association data for autism and schizophrenia, the authors point out that 4 loci are associated with both schizophrenia and [...]

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Indulging my inner rat over a few drinks

Posted in ADH1C, Amygdala, CDH13, Caudate nucleus, GATA4, Striatum, tagged , , , , , , , , , , , , , on November 16, 2009 | Leave a Comment »

Image by Scrunchleface via Flickr A recent GWAS study identified the 3′ region of the liver- (not brain) expressed PECR gene (rs7590720(G) and rs1344694(T)) on chromosome 2 as a risk factor for alcohol dependency.  These results, as reported by Treutlein et al., in “Genome-wide Association Study of Alcohol Dependence” were based on a population of [...]

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echoblog: Larry David makes genetics fun(ny)!

Posted in Uncategorized, tagged , , , , , on November 13, 2009 | Leave a Comment »

Image by roberthuffstutter via Flickr pointer to: Eye-on-DNA’s post of last nights episode of “Lopez Tonight” where Larry David shared the unveiling of his “Ancestry-by-DNA” results.  He was good sport and it was great to see science as FUN.  His results made me wonder if such ancestry tests are reliable though.

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Krill-sized genetic risk factors caught with fine NRG1 netting

Posted in NRG1, tagged , , , , , , on November 10, 2009 | Leave a Comment »

Image via Wikipedia The neuregulin-1 (NRG1) gene is widely known as one of the most well-replicated genetic risk factors for schizophrenia.  Converging evidence shows that it is associated with schizophrenia at the gene expression and mouse model levels which are consistent with its molecular functions in neural development.   However, in several recent genome-wide association studies [...]

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Interview with Dan Weinberger, M.D. on KCNH2 and schizophrenia

Posted in Uncategorized, tagged , , , , , , , on October 27, 2009 | Leave a Comment »

Image by Oliver Lavery via Flickr Daniel R. Weinberger, M.D., Chief of the Clinical Brain Disorders Branch and Director of the Genes, Cognition and Psychosis Program, National Institute of Mental Health  discusses the background, findings and general issues of genes and mental illness in this brief interview on his paper, “A primate-specific, brain isoform of [...]

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Catecholaminergic genes may help my son hear things more clearly

Posted in ADRA2A, Frontal cortex, Noradrenaline, Parietal cortex, TH, tagged , , , , , , , , , , , , , , , on October 9, 2009 | Leave a Comment »

This year, my 5 year-old son and I have passed many afternoons sitting on the living room rug learning to read.  While he ever so gradually learns to decode words, eg. “C-A-T”  sound by sound, letter by letter – I can’t help but marvel at the human brain and wonder what is going on inside.  [...]

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podcast: Rett Syndrome Research Trust

Posted in MECP2, tagged , , , , , , , , on October 1, 2009 | Leave a Comment »

It was a delight today to chat with Monica Coenraads, Executive Director of the Rett Syndrome Research Trust.  The RSRT has teamed up with a deeply focused world-class team of research scientists to translate the fruits of basic research on Rett syndrome into viable cures.   Whether you are a scientist, student or concerned family member, [...]

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echoblog: “survey says” folks for genetic testing

Posted in Uncategorized, tagged , , , on September 19, 2009 | Leave a Comment »

Image via Wikipedia pointer to: Razib Khan’s results (600+ respondents!) survey on genetic testing and psychiatric illness.  Very informative!

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homebrew comics 13

Posted in Uncategorized, tagged , on September 5, 2009 | Leave a Comment »

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echoblog: Buzz on direct-to-consumer genetic (hype) testing

Posted in Uncategorized, tagged , on September 2, 2009 | Leave a Comment »

Image via Wikipedia pointers to: “Personalized Genetics: DTC Genetic Tests Are Hype” and “The World of Genetic Genealogy and DTC Genetic Testing Never Sleeps…“ Even though the data collection technology still outpaces the deeper understanding of the data, we’re learning more and more all the time.

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Webcast to NIH conference on family history information

Posted in Uncategorized, tagged , , on August 21, 2009 | Leave a Comment »

pointer to next week’s conference in Bethesda NIH State-of-the-Science Conference: Family History and Improving Health.  From the website, “Family history is also critical to determining who will benefit from genetic testing for both common and rare conditions, and can facilitate interpretation of genetic test results.”  You can watch live or later via an archived webcast!

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