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For nearly 40 years, geneticists have looked to ancient DNA to find answers about our modern condition. And, beyond just ancient DNA, research institutionsincluding Penn Medicinehave sought to sequence current human DNA to better understand how genetic variations affect health and disease.

What Iain Mathieson wants to do is compare the past and present to understand how certain genes have evolved, in the process shining new light on some of today and yesterdays diseases.

What were interested in is, Can we say anything about the phenotypes of these ancient individuals? explains Mathieson, an assistant professor of genetics in the Perelman School of Medicine. A lot of people are trying to use present-day genomes to discover genetic variants in people today that are related to specific diseases. [We want to see if] we can take that information and use it to say anything about the ancient people and their diseases. What were doing is combining ancient genomes with information about genetic variants and diseases from present day people to learn about disease in ancient people.

This summer, Mathieson and postdoctoral researcher Samantha Cox are working with two rising second-year students to collate and analyze existing data from scientific literature conducted around the world. Carson Shin, of Herndon, Virginia, who is an anthropology major in the School of Arts & Sciences, conducts anthropological and archaeological literature reviews to find new archaeological and DNA data. Kaeli Kaymak-Loveless, a computer science major in the School of Engineering and Applied Science, then takes that data and tries to analyze it using the statistical computing program R. The students work is funded by the Center for Undergraduate Research and Fellowships.

While Mathieson is ultimately interested in answering big questions, like how the rise of agriculture influenced the genome, hes first looking to see if his method for comparison works. He and his team of CURF interns are collating DNA data, tracking down information on skeletons, and determining height. Theyre examining height in particular, Mathieson says, because theres already a lot known about genetic variants and their relationship to height in present-day people. If they can accurately predict the height of ancient people through genetics, then, the next question becomes, What else can we say?

What wed like is to be able to say things we cant measure in the skeletons, Mathieson says. One of the big technology changes in the last 10,000 years is the development of agriculture; before that, people lived by hunting and gathering, and in the last 6,000 to 8,000 years many transitioned to an agricultural diet. You might wonder if variants of diseases todayobesity, diabetes, or even some autoimmune diseasesmight have a genetic basis in that diet.

Shin began his first year at Penn as a global health major before switching to anthropology, concentrating in archaeology. Heading into the summer, he knew he wanted to work on a project thats hands-on and interdisciplinary; Mathiesons project felt like a perfect fit.

As an anthropology major, its fascinating to me that even though were so separated from our ancestors by time, so little has actually changed about us as humans, Shin muses. Biologically, were pretty much the same. If I met someone from 3,000 years ago, I wouldnt be looking down on them or looking uptheyd be almost the same height as me, eye to eye.

As hes worked, he says, hes realized that he needs more coding experience and plans to take a half-credit course on R in the Wharton School once he meets prerequisitesthe sort of flexibility he says brought him to Penn in the first place. He says he never expected to take a computer science course, coming to Penn, but has relented.

Ive got to know how to code, he says.

Kaymak-Loveless, meanwhile, began as a bioengineering major before switching to computer science. Shes been weighing what to concentrate in but says the internship has allowed her to settle on computational biology, with an aim to take more biostatistics courses.

Most freshmen struggle to find something meaningful to do in their first summer, and I honestly wasnt really expecting to be doing anything meaningful this summer, says Kaymak-Loveless. But I feel like Im applying myself and learningthis has been a great experience.

Mathieson says he usually works with fourth-year students, but has been really impressed with how quickly Kaymak-Loveless and Shin have learned. In the short-term, Mathieson plans to develop the project into a paper.

But once we establish this technique and the ability to do this [successfully], wed like to use this to learn about traits you cant see in skeletons, related to diet and disease, Mathieson says. Thats the end goal.

The rest is here:

What the genomes of ancient humans can teach us about modern health | Penn Today - Penn Today