University professor earns accolades for research on genome sequencing

Photo Illustration by Marlene Lacasse/Daily
Biostatistics professor Goncalo Abecasis describes the basics of genome and DNA mapping. Buy this photo

By Will Greenberg, Daily Staff Reporter
Published June 12, 2013

Successful research must be in the genes of Biostatistics Prof. Goncalo Abecasis, as he secured his third recognition from the Intellectual Property & Science business of Thomson Reuters as one of the “Hottest Researchers” of 2012.

The program names researchers in various fields each year based on the total number of citations their papers receive throughout the year. Abecasis, who is also the director of the Michigan Genomic Initiative, was recognized by Reuters for his work in biostatistics.

Abecasis has been with the University since 2001 and his work has focused primarily on genetics and genomics. He has worked to “map” the human genome, finding all the genetic variations for each gene to create a better understanding of the body. He then studies these discrepancies in order to find their links to diseases.

Abecasis said the diseases he investigates are those that are largely genetic, such as macular degeneration or diabetes.

“Once you know, for example, if I can ‘break’ this gene I will lower your risk of disease,” Abecasis said, “Then you might say, ‘Well, it may be a good idea for trying to prevent disease is to design a drug that also blocks the gene.'”

Fellow Biostatistics Prof. Michael Boehnke helped recruit Abecasis to University in 2001 and now works with him. Boehnke said the two have been able to locate hundreds of genome locations and specific genes linked to different diseases.

Boehnke said Abecasis’s research award is “easily” well deserved, and Abecasis is “intellectually brilliant” and a great collaborator. His ability to locate and find solutions for problems is what sets him apart in the scientific community, Boehnke said.

Abecasis said the Reuters award tends to fit better in different fields because his line of work naturally gets cited more often. He said while it was satisfying to have so many people cite his papers, the award was never his goal.

“If something like this happens it’s kind of nice and it’s kind of the icing on the cake,” Abecasis said. “But you don’t plan your research to say, ‘Oh, I’m going to get a lot of citations,’ you say, ‘Hey, what are the big questions?’ and you try and tackle them.”

While a combination of genetic and genomic projects helped sustain Abecasis’s recognition from Reuters, Abecasis said one of his favorite projects was the “1000 Genomes Project,” an effort with Oxford University to sequence human genomes of people across the world. Abecasis said before this project started in 2007, there were only about 20 fully sequenced human genomes ever completed.

“We really managed to take sequencing technologies and what we know about human variation forward quite a bit,” Abecasis said. “Now it’s a basic resource for genetic studies.”

Boehnke discussed another successful project for Abecasis: the developing of statistical method where genomic data from other people is used to more efficiently build a new human genome. Boehnke said this method is hugely beneficial to biostatistics work for the future.

“A half dozen years ago when Goncalo was the key developer of this, there were many people who were skeptical it would work,” Boehnke said. “Now you don’t even necessarily question where this came from because it’s so standard and fundamental to what we all do.”

Currently, Abecasis continues to help build a database of genetic information through projects possibly involving thousands of patients. Abecasis said he is working on finding a better method of obtaining the human genome, saying that current strategies often don’t include all the details and variations.

“Right now most analysis typically compares a genome to the reference that was built in part manually and over a long period of time so they miss things where any individual is very different from that referenced genome,” Abecasis said. “We’re working to come up with methods where we can rebuild an individual’s genome almost from scratch.”

In the past, the limitations of sequencing genomes had much to do with goals that reached beyond the technology available as well as financial constraints. However, Abecasis said, just within the past decade there have been major advancements that make sequencing more efficient through the use of micro-arrays, allowing several genes and their variations to be observed all at once.

Abecasis said he hopes his work will be the next step in advancing genome sequencing.