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Posts Tagged ‘Genetic testing’

That awkward moment …

Posted in Uncategorized, tagged , , on February 27, 2012 | Leave a Comment »

when you realize that the genetic risk of that allele you carry was calculated using a small population from south-western-upper-middle-eurasia-stan … and doesn’t really apply to your individual situation.

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Will consumers and insurance companies be able to screw each other with access to personal genomes?

Posted in Uncategorized, tagged , , on February 4, 2012 | Leave a Comment »

Perhaps just a little bit.  One Law Professor’s experience. “As it happens, … It turned out that I had a genetic variant that implied a moderately increased risk of meningioma, the second most common type of brain tumor. The information came a little late to be useful. Last summer, … found me half conscious on [...]

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Genetic testing across the US of A

Posted in Uncategorized, tagged , on August 16, 2011 | 6 Comments »

Having some fun here learning to visualize data using Processing.  Here is a map showing the relative number of genetic testing laboratories.  California is listed with the most (35 labs).  *Note, these are genetic testing laboratories which may service a wide range of health care providers and clinics.

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Large brain-function genes confound case-control studies

Posted in Chromosome structural variants, tagged , on June 14, 2011 | Leave a Comment »

Thinking of bragging about the large size of your brain-function genes? Brain-function genes can be very large.  Genetic variation – specifically, copy number variation (CNV) – is often found in brain-function genes in populations with mental disability … but … not much more often than in healthy populations. To demonstrate the potential impact of confounders, [...]

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Maps of maps of maps of maps …

Posted in Uncategorized, tagged , , , , , on June 14, 2011 | Leave a Comment »

THE ultimate guide to your genome … ‘nuf said. The mission of the Encyclopedia of DNA Elements (ENCODE) Project is to enable the scientific and medical communities to interpret the human genome sequence and apply it to understand human biology and improve health. The ENCODE Consortium is integrating multiple technologies and approaches in a collective [...]

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Is the human genome too big for our planet?

Posted in Uncategorized, tagged , , , on February 10, 2011 | Leave a Comment »

I mean, how many people are really needed to run a sufficiently powered genome-wide association study?  Are there enough people on the planet?  Heather J. Cordell’s review, Detecting gene-gene interactions that underlie human diseases, seems optimistic, but, at this point, it seems a valid question … at least if you want to detect gene-gene interactions. [...]

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A neurotic search gets lost in the statistical seas

Posted in MDGA2, Uncategorized, tagged , , , , on February 7, 2011 | Leave a Comment »

A LOT of genetic data is out there … and more coming all the time … easy to get excited about, but hard to make sense of.  Here’s an epic story of just one SNP. One of the best research teams in the business performed a genomewide association study (GWAS) of neuroticism in 1,227 US [...]

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That 70s personal genome

Posted in Chromosome structural variants, tagged , , , , on February 3, 2011 | 1 Comment »

“Listen Eric, you should think about how useful your newfangled Personal Genome is going to be.  There are a lot of reasons why all this information doesn’t tell you much” “For example, have you thought about epigenetic effects that might be environmentally induced and can be transmitted across multiple subsequent generations?  Genotypes of individuals in [...]

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John Cleese punches me in the head

Posted in Uncategorized, tagged , on December 20, 2010 | Leave a Comment »

I probably deserve a punch in the head (see video). I will try harder to emphasize that this blog is NOT about “genes cause this” and “genes cause that”, but rather about the way we can use our genetic information as a tool – just one of many – to explore our relationships with each [...]

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Dorothy Bishop profiles mygeneprofile

Posted in Uncategorized, tagged , on December 12, 2010 | Leave a Comment »

Great commentary by neuroscientist Dorothy Bishop on the limits of personal genomics …

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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 Cerebellum, CNTNAP2, 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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