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Amy Swearingen

Maurice Treacy to Speak on Precision Planet Panel

By | Conferences and Meetings, GMI News | No Comments

GMI Co-Founder, Maurice Treacy, will be speaking this Thursday on the Precision Planet Panel at 11.30am PDT for the Precision Medicine Leadership Summit in San Diego, California. The geographically and experientially diverse group of leaders will explore the various challenges that governments, industry, and the nonprofit sector face when implementing the evolving technologies of precision medicine.

The Tearaway

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david-kavanagh-for-profileAn Interview with Clinical Partnerships Leader, David Kavanagh, by Eimear Doyle

Having it every-which-way: Part -time farmer/ Full- time scientist, David talks with me about start-ups, air-miles, science, transience, and goats, of course!

David, what made you want to work in science?

My parents would say I was always asking questions …Why? Why? Why? I was a “tearaway” in school…. Really! But I was always good at biology, had a great teacher, so I gravitated towards it.

First year General Science was tough though as I hadn’t had the opportunity to study physics and chemistry for the Leaving Cert–I did a Biochemistry undergrad in UCC, then a PhD in biochemistry -cardiovascular research. It was cell level work, lab work in UCD, so I moved up to the big smoke. Read More

The YouTube Hunter Gatherer

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david-cotter-for-profileAn Interview with Senior Software Developer, David Cotter, by Eimear Doyle.

As usual, I am out of my comfort zone. Software Development is the unenviable terrain I am about to traverse this time. Think patterns? Think Big Data? Apparently not!

According to our Head of Software Development, DavidCotter, it’s …think deep! Think Magic!

Tell me about your background before GMI?

I’ve worked in three main areas of software development. My first job was in email servers, and then telecoms, then payment card security. So life sciences was a very big change! Read More

Firefighting

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raonyAn interview with Senior Bioinformatician, Raony Guimarães, by Eimear Doyle.

It was not without trepidation that I approached this interview with Raony. A what? A Bioinformatician? Never heard of it! Would I even know what to ask him? Give me accountants, business development geeks, salespeople, financiers any day, and I can talk the talk…

So here goes…an insight into the world of “Science and Genomics”

Raony, tell us what you do on a typical working day?

My typical day usually is a mixture of reading, writing, coding, meetings, replying to e-mails, doing interviews and preparing presentations.

It always starts with coffee, because there is nothing better than coffee to start a good day!

Read More

From the Classroom to the Coal Face

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jackie-dolan-for-profileAn Interview with Clinical Partnerships Leader, Jackie Dolan, by Eimear Doyle.

I talked to Jackie Dolan about her transition from research in university to GMI, from working at her own pace on a linear plane to participating in a collaborative project. The challenges. The pitfalls. The rewards.

Jackie, can you tell us about your background in genetics?

I achieved my Ph.D. working on the genetics of neuro-developmental disorders in the Genetics Department in Trinity College Dublin. My beautiful sister has a rare undiagnosed neuro-developmental disorder and has always been my inspiration to work in this area to try and increase our knowledge of what causes of these diseases and how prevent or treat them. During my Ph.D. I was lucky to identify a gene which we got to name ELFN1. Read More

The Beachcomber

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judith-conroy-profileAn Interview with Research Programme Manager, Judith Conroy, by Eimear Doyle

I talk to Judith Conroy, our resident geneticist, about moving beaches, digging for bodies in the bogs…and death beds…honestly, it’s all in a day’s work!

Tell me about yourself and your background?

I’m a geneticist. I started in the academic world; a degree in Human Genetics in Trinity followed by a Ph.D. in Neuropsychiatric genetics, specialising in Autism. Read More

GMI’s Raony Guimaraes Develops Mendelian Disease Diagnosis Tool

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raony-guimaraesGMI Bioinformatician, Raony Guimaraes, was featured on GenomeWeb for his work alongside a team of colleagues from the Federal University of Minas Gerai in Brazil who developed an open-source software tool to enable researchers and clinicians to home in on disease-causing variants for Mendelian disorders in genomic data.

Their tool, called Mendel,MD, analyses and annotates exome or genome data, compares it against a number of databases, and filters it to identify a list of candidate disease-causing mutations.