Jeremy's Work Featured on NOVA!

Last night, NOVA (on your local PBS station) aired an episode titled "Cracking Your Genetic Code." It talked about how genetics are being used to play a role in diagnosing unknown diseases, how your genetics can tell you your probability for contracting known diseases, and the whole general premise behind Next Generation Sequencing.

Both Jeremy's boss, Dr. Elizabeth Worthey (the Scottish woman talking with Dr. Jacob near the end of the hour), and the head of the Human Molecular and Genetic Center where Jeremy works, Dr. Howard Jacob, were featured on the show. And they were talking about some of the work Jeremy and his co-workers (including our friend Brandon) are doing right now to try and save the lives of children. So cool!!

First up, they introduced a 5-year old boy who is presenting with various symptoms, including chronic fevers and strokes. This is a case that Jeremy has been working on for months now--continually analyzing DNA and finding suspect genes to be looked deeper into. (Jeremy didn't know his name until the program aired last night--he's only known him by a case number.) When Dr. Jacob and Liz were talking towards the end about a list Liz received with a "suspect gene" for the patient, that was a list that Jeremy remembers generating and sending to Liz! Unfortunately, the suspect gene was ruled out as being the cause of the boys unknown disease and so Jeremy, Brandon, Liz, and Howard are still searching for the mutation.

They also introduced a boy named Nicholas Volker, who was close to dying two years ago. But they found the one single DNA marker that had been mutated and were able to give him a donor's immune system and now he's doing much better. That single mutation was discovered by Liz! (He was the boy that Howard gave the present to and asked, "How many PhDs does it take to put together a Green Lantern?")

This is the way Jeremy described where he falls in the whole scheme of things at the center: Jeremy is the intermediate between the actual sequencer and the final analysis.
  1. You have the DNA sequenced
  2. A programmer inputs the information into a database
  3. Then Jeremy uses the information in the database and inputs it into a program he writes to find out whatever they need to find out
  4. Then it's analyzed (this includes Jeremy, Brandon, Liz, Howard, and others, sometimes only some of them, sometimes all of them)
  5. Then Liz, Howard, and clinicians use the data for final interpretation and to determine cause and possible treatments.
Pretty cool!

Last night on NOVA they also mentioned Apolipoprotein E4, which is a genetic risk factor for Alzheimer's disease. Jeremy is no longer working on this research, but it is one of the things that helped him get his current position at the HMGC (where he also just got a promotion and a pay raise to Bioinformatics Analyst I since Human Resources agreed to the job title!). He was working on it while he was at BYU and he presented on it during his interview process here at the Medical College. I've included that Powerpoint presentation below for anyone who is interested in looking through it.

Other Interesting Links:
  1. Local Write-Up of the NOVA Episode
  2. The story of Nicholas Volker and how he was finally diagnosed
  3. A write of a recent conference Liz went to and talked about GapMine - GapMine and what it does is mentioned in the section titled "Worthey Causes"
  4. My previous blog about Jeremy's GapMine project - with his poster presentation for the conference in New York