15 months on and going well

posted Jan 10, 2016, 4:46 PM by Colm O'Dushlaine

We are now well above 75k exomes and thousands of phenotypes. Work is going very well; we have made major inroads towards understanding the genetic basis of several diseases but have focused largely on immune and cardiometabolic traits in the main. Our first major publication was CLAMMS, by far the most efficient versatile and scalable exome-specific CNV caller out there. Additional publications are in review and I will put the link up when the articles go live. Here's to another great year of great science!

Off to Regeneron!

posted Oct 20, 2014, 3:12 PM by Colm O'Dushlaine

I'm delighted to announce today that I'll soon be starting a new position in the Regeneron Genetics Center as Manager, Statistical Genetics! Will post some updates over the coming months. The overall aim of the company's work will be to leverage human genetics, through exome and related studies and numerous collaborations, to inform on new drug targets. See here for original press release and here for the company's website. Very excited about the challenges and opportunities that lie ahead. 

Given that I'm moving to New York, I say "Excelsior!"

108 loci associated with schizophrenia

posted Jul 23, 2014, 6:50 AM by Colm O'Dushlaine   [ updated Jul 24, 2014, 4:55 AM ]

Big big news this week in nature. I was a small part of this work. I believe there's still about 15-20 years ahead before we have new families of genetics-informed drugs for schizophrenia, but this is a major advance. It's sort of a human genome project for schizophrenia, identifying a large number of the genes implicated in the condition and setting forth an initial road map for drug development. 

To give you a context of how rapid we got here:
  • +/-1990-2000+/-: nothing really was discovered. Lots of underpowered linkage studies and candidate gene studies
  • ~2009: 1 genome-wide significant hit, an imputed variant in MHC
  • 2013: I co-first authored a paper identifying 13 new risk loci (22 total)
  • Today: 108 risk loci, several pathways implicated
Check out the paper, well worth reading. Nice News & Views commentary here also, and nature news item here.

Other media appearances: 
NY Times article here
BBC article here
Time article here
Boston Globe article here
Science news article here
The Scientist article here
NIMH news article here and Tom Insel's blog article here
LA Times news article here

[2013/08/27] Swedish SCZ paper published...yeahhhh!

posted Aug 27, 2013, 7:19 AM by Colm O'Dushlaine   [ updated Aug 27, 2013, 7:20 AM ]

New year, exciting things ahead

posted Jan 21, 2013, 9:42 AM by Colm O'Dushlaine   [ updated Jan 21, 2013, 9:43 AM ]

Once of my resolutions will be to actually update this site at a reasonable rate...

Workwise, on the immediate horizon are:
- lots of new GWAS significant candidates for schizophrenia will be published by the Swedish Schizophrenia consortium and then later by the PGC (psychiatric GWAS consortium)
- the Swedish group are also working on copy-number variation in about 11,000 individuals. Some interesting results have emerged so far but we're a few months off a viable paper. Stay tuned.
(follow @codushlaine on Twitter for work updates)

- some big motorcycle trips planned - Ohio and Atlanta
- I'm the best man for my brother's wedding in August, in Poland, whoohoo!

Long time...

posted Nov 16, 2012, 12:13 PM by Colm O'Dushlaine   [ updated Nov 16, 2012, 12:15 PM ]

Yikes, I haven't updated in a long time. Work going well. Exciting conference in Hamburg a month ago where we saw how successful GWAS was becoming for SCZ in particular. An example is below, highlighting emerging genomewide significant loci in schizophrenia over just 3 years!


June 20th 2011

posted Jun 20, 2011, 8:13 AM by Colm O'Dushlaine

- Working full time at the Broad now, going very well

Jan 25th 2011

posted Jan 25, 2011, 2:14 PM by Colm O'Dushlaine   [ updated Jan 25, 2011, 2:29 PM ]

- Working on pooled sequencing data this week
- got my 23andme results...very exciting!

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