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Your genome is a recipe book that’s inside each one of your cells.  It tells your body how to make YOU.  There are about 20,000 different recipes (called genes) in this book.  Sometimes the recipes have mistakes in them and they make a non-working ‘dish’ (called a protein or enzyme), sometimes the recipes are missing entirely.   When this happens you can (but not always) get very very sick.

My work involves ‘reading’ (called sequencing) the recipe book and trying to figure out what is wrong with the sick kids.  Because the recipe book is over 3 BILLION characters long we need to do this with computers.  I write programs that help sort through all the sequencing data to try and find the small mistakes that is causing a kid to get sick.

Some genes are known to cause illness but some genes do not.  A lot of my work is trying to see if a typo in a gene with no known disease could actually be causing a disease in a kid.  This is called ‘gene disease discovery’.  So far I have been involved in finding about 10 new disease genes. These genes might cause heart disease, or epilepsy (a disease where you sometimes shake uncontrollably) or cause the kids to be very sick and disabled.  I often work with other scientists, parents and doctors to find these new disease genes and right now I’m working on 2 brand new ones.

You can read about some of my work below:

http://www.chron.com/news/houston-texas/article/Twins-recovery-signals-key-step-in-genetic-2082044.php

http://www.cnn.com/2014/03/20/health/ngly1-genetic-disorder/

http://www.nature.com/news/data-barriers-limit-genetic-diagnosis-1.12414

http://calderconnection.blogspot.com/2013/06/dellas-asxl3-genetic-research-published.html

I often wake up in the middle of the next and think of a new way to analyze data.  So usually the first thing I do in the morning is write computer code to see if my idea finds something new.  (It usually doesn’t).  I’ll then look at some unsolved cases that have been analyzes by my coworkers but couldn’t be figured out.  This is the machine that actually sequences the kids.  More of my coworkers actually know how to run it. .

My office is very boring but I get to run my code on a fairly large computer cluster.   .  The cluster is actually 10 miles away from where I work.  I’ve never even been there.

Like most jobs I have lots of meetings.  I’ll meet with coworkers, parents of sick kids, and doctors.  I also do a lot of writing.  Scientists write “papers”, which is how they tell the rest of the world new things we’ve found.  We also write grants, which is how we ask the government for money to fund us so we can find new diseases and diagnose more kids.

I think science fairs are a great way to get kids excited about science.  It’s also a good way for them to interact with scientists who they might otherwise never get to meet.