skip navigation nih record
Vol. LXVI, No. 6
March 14, 2014
cover

previous story

next story


Thinking Globally
Genomics Research Holds Key to Improving World Health

On the front page...

Genomics can help us dig for clues toward curing disease; the discipline also proved useful when digging up royal remains buried under a parking lot in England.

Last year, archaeologists unearthed the skeleton of King Richard III. The king was 32 when killed in battle in 1485 and legend said he had a hunchback. The exhumed skeleton was of a young man with severe scoliosis and massive head and face wounds, presumably from battle. But was it really Richard?

Dr. Turi King, a geneticist at the University of Leicester, U.K., has led the DNA analysis team that confirmed this most improbable discovery. Naturally, the DNA was fairly degraded, she said, so to be sure they had the right chap, they had to compare it with a living descendant. After genealogists located two of Richard’s maternal-line relatives, King’s team found that the DNA matched. King and her team are now getting ready to sequence Richard’s genome by extracting DNA from a sample of his bone. Deciphering Richard’s genetic code may offer clues about the late king’s health and ancestry.

Continued...

Genomics, or the interaction of genes with each other and with the environment, can help solve historical riddles, such as identifying a 15th-century king. The burgeoning field is now shaping all areas of health, from infectious and non-communicable diseases to inherited conditions. The impact of genomics around the world was discussed at the NIH symposium, “The Role of Genomics Research in Global Health,” on Feb. 6 in Natcher Bldg.

NIMH’s Dr. Thomas Lehner discussed “The Genetic Architecture of Mental Disorders Across the Globe” NEI’s Dr. Gyan Prakash offered opening remarks at the symposium.
NIMH’s Dr. Thomas Lehner (l) discussed “The Genetic Architecture of Mental Disorders Across the Globe” and NEI’s Dr. Gyan Prakash (r) offered opening remarks at the symposium.

Diseases such as cancer, cardiovascular disease, diabetes and autism affect people worldwide across all demographics. “These are all diseases that have been linked to changes in a larger microbial community as a whole,” said Dr. Julia Oh, a postdoctoral fellow at NHGRI. “Changes in the fundamentals of these microbial communities, our microbiome, not only are themselves associated with disease, but also pathogens don’t work alone. Community context can influence the transmission, susceptibility to, or severity of a disease-causing pathogen.”

Studying genomic diversity can be a key to unlocking answers about infectious diseases around the globe. Scientists are sequencing and comparing the genome composition of multiple isolates of the same species to uncover the genetic basis of phenotypes of interest, such as drug resistance, and to identify antigens with the goal of designing new vaccines.

Dr. Joana Carneiro da Silva, assistant professor, Institute for Genome Sciences at the University of Maryland School of Medicine, has been studying the tick-borne parasite that causes East Coast fever (ECF) in cattle in Africa. More than 20 million cattle are at risk in 11 countries of sub-Saharan Africa; 1 million cattle die from ECF each year.

Scientists have devised a new approach to sequence the genome of this cattle parasite without sacrificing the host and are now studying host specificity as well as improved vaccine design. Said Carneiro da Silva, “This is transformational also for human pathogens as we work to develop highly effective vaccines.” One such clinical trial under way is for the PfSPZ vaccine that would immunize people against malaria.

Dr. Mark Guyer, deputy director of NHGRI, discusses H3Africa (Human Heredity and Health in Africa), a collaboration between NIH and the Wellcome Trust. The partnership aims to increase collaborations among African investigators and expand genomic research infrastructure across the African continent.

Dr. Mark Guyer, deputy director of NHGRI, discusses H3Africa (Human Heredity and Health in Africa), a collaboration between NIH and the Wellcome Trust. The partnership aims to increase collaborations among African investigators and expand genomic research infrastructure across the African continent.

Photos: Bill Branson

Food-borne parasites are another global challenge. Certain parasites might make you violently ill for a couple of days. Others might cause cancer. Dr. Paul Brindley, a microbiology professor at George Washington University School of Medicine and Health Sciences, said millions of people in East Asia have, or risk getting, liver fluke infection, a chronic inflammatory disease often contracted from worms consumed in raw or undercooked seafood. These worms alter the gastrointestinal tract microbiome; the resulting infection greatly raises the risk of developing bile duct cancer.

Genomics is also having a profound effect on cancer research worldwide. Dr. Thomas Gross, deputy director of science at NCI’s Center for Global Health, said the rate of cervical cancer is 10 times higher in developing countries than developed ones. But it’s been difficult in many regions to get women into clinics to test for human papillomavirus (HPV). New molecular biology techniques may soon pave the way for commercial HPV tests. In China, lung cancer is the second leading cause of cancer-related deaths among women, even among non-smokers. Now scientists have identified different gene mutations in smokers and nonsmokers to help researchers develop more targeted therapies.

Genomics studies are also helping mental health researchers gain a better understanding of characteristics unique to certain ethnic groups. Genomic sequencing is helping to unlock clues about bipolar disorder in Latin American populations, said Dr. Thomas Lehner, chief of the Genomics Research Branch at NIMH. Scientists also are studying gene variants of schizophrenic patients in African countries.

Various conditions and treatments affect different people around the world in distinct ways. Genomics is helping to identify and address a wide range of global health problems; there’s plenty more to be done.

“We need funding for grants for global field research through schools of public health and medicine,” urged Dr. Jim Herrington, director of the International Relations Division at the Fogarty International Center. “The outcome will be interdisciplinary teams and cross-fertilization of these interactions between people with various backgrounds to solve the difficult problems that we’re coming across today and into the future.”


back to top of page