Simpler, more portable ECGs: Emory experts hosting computing challenge

Emory biomedical informatics specialists are hosting an international computing contest to support simpler, more potable electrocardiogram Read more

First (and massive) whole-genome study of IBD in African Americans

In African Americans, the genetic risk landscape for inflammatory bowel disease (IBD) is very different from that of people with European ancestry, according to results of the first whole-genome study of IBD in African Americans. The authors say that future clinical research on IBD needs to take ancestry into account. Findings of the multi-center study, which analyzed the whole genomes of more than 1,700 affected individuals with Crohn’s disease and ulcerative colitis and more than Read more

Emory researchers SNARE new Alzheimer’s targets

Diving deep into Alzheimer’s data sets, a recent Emory Brain Health Center paper in Nature Genetics spots several new potential therapeutic targets, only one of which had been previous linked to Alzheimer’s. The Emory analysis was highlighted by the Alzheimer’s site Alzforum, gathering several positive comments from other researchers. Thomas Wingo, MD Lead author Thomas Wingo and his team -- wife Aliza Wingo is first author – identified the targets by taking a new approach: tracing Read more

genetics

Personal genomics: out of the bottle

Do you really want to know? That’s the question more and more people will be faced with, as personal genetic testing becomes more widespread.

Andrew Faucett discussed some of the emerging issues in “personal genomics” that will confront both doctors and patients at Emory’s Predictive Health Symposium in December. Faucett is an expert in the field of genetic testing and genetic counseling and an assistant professor in Emory’s Department of Human Genetics.

For example, does a man want to find out whether he is really the father of a baby? A recent New York Times magazine article explores this issue.

Read more

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From the Predictive Health Symposium

Predictive Health logoEmory and Georgia Tech kicked off their fifth annual predictive health symposium, “Human Health: Molecules to Mankind,” Dec. 14-15. Researchers, physicians, health care workers, and interested community members were treated to some intriguing and provocative findings and commentary.

Emory President James Wagner and Georgia Tech President Bud Peterson introduced the symposium, along with Fred Sanfilippo, MD, PhD, CEO of Emory’s Woodruff Health Sciences Center. Sanfilippo emphasized that predictive-personalized health is one of the most innovative and promising solutions to our current health care crisis. Medicine today stands at the brink of an achievable goal to tackle the most serious issues facing the health of humans – the ability to predict, reduce, and in many cases eliminate the specific illnesses we each face.

To achieve this goal, he said, we must understand why each of us has a different risk and response to diseases and their treatment, based on our unique differences in biology, behavior and environment. And then we have to use that knowledge to determine the right treatment at the right time for each individual.

Keynote speaker Penny Pilgram George, president of the George Family Foundation and co-founder of the the Bravewell Collaborative, said, “We currently have a disease management system based on episodic care, which means we treat symptoms instead of problems…True healing can only begin when we correctly diagnose the problem and treat the root cause.”

We know we could prevent half of chronic illness, said George by simply teaching people to eat nutritionally, adopt health habits such as nonsmoking, build positive relationships, live and work in nontoxic environments, practice stress reduction, stay fit through some form of exercise, and be purposely engaged in life. If we only treat disease after it occurs and do not promote health, we will have missed the whole point. We need to create a culture of health and well being.

And this from W. Andrew Faucett, director of the genomics and public health program at Emory, who cautioned that although many personalized genetic tests are now available through numerous sources, individuals and clinicians have to weigh the benefits, risks, and usefulness of this evolving technology. People may not even want to know some things revealed by genetic testing, and not everything revealed may be clinically useful or related to disease risk. For example, matters such as one’s true ancestry or revelations concerning one’s paternity may unexpectedly come to light. Furthermore, the accuracy of personalized genetic testing should be carefully considered. Also, a negative result is never truly negative, because there are so many factors involved and some of them can change.

Faucett also spoke about the differences between relative risk and absolute risk. “Anytime you’re talking about genetic risk for disease, you have to present risk in multiple ways,” Faucett said.

Kenneth Thorpe, chair of health policy and management at Emory, talked about the elements of health reform that may be getting lost in the reform process– redesigning the delivery system to prevent and avert the development of disease. Thorpe focused on Medicare because he says, it’s “the most acute offender of the system.” That is, it encompasses some of the most difficult problems that health care reform faces. The typical Medicare patient, he said, is an overweight hypertensive diabetic with back problems, high cholesterol, asthma, arthritis, and pulmonary disease. And that typical patient sees two different primary physicians, a multitude of specialists, and fills 30 different medications. Yet, Medicare does nothing to coordinate the patient’s care. As a result, preventable admissions and readmissions rates are “off the charts,” he says. But, data show that coordination could cut those rates in half.

Because today’s patients have chronic health care conditions that require medical management, said Thorpe, the hope is to develop a preventive and personalized health plan that identifies problems before they manifest and employs care coordinators to guide patients while they’re at home.

And Paul Wolpe, director of the Emory Center for Ethics, says health care has changed as more and more aspects of ordinary life or behaviors are being redefined as medical. For example, being drunk and disorderly has become alcoholism. Now, virtually all of life is being redefined in biological terms, he says. And that has led to an increase in health care costs. We have an enormous amount of new things that we are calling illness, and we expect this health care system to treat them, he says. “We are creating a new category of disease called presymptomatic.”

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Inflammatory bowel disease gene regions identified

In the largest, most comprehensive genetic analysis of childhood-onset inflammatory bowel disease (IBD), Emory and Children’s Healthcare of Atlanta gastroenterologist Subra Kugathasan, MD, and colleagues identified five new gene regions, including one involved in a biological pathway that helps drive the painful inflammation of the digestive tract that characterizes the disease.

Subra Kugathasan, MD

Subra Kugathasan, MD

IBD is a painful, chronic inflammation of the gastrointestinal tract, affecting about 2 million children and adults in the United States. Of that number, about half suffer from Crohn’s disease, which can affect any part of the GI tract, and half have ulcerative colitis, which is limited to the large intestine.

Most gene analyses of IBD have focused on adult-onset disease, but this study concentrated on childhood-onset IBD, which tends to be more severe than adult-onset disease.

Kugathasan and a team of international researchers performed a genome-wide association study on DNA from over 3,400 children and adolescents with IBD, plus nearly 12,000 genetically matched control subjects, all recruited through international collaborations in North America and Europe.

In a genome-wide association study, automated genotyping tools scan the entire human genome seeking gene variants that contribute to disease risk.

The study team identified five new gene regions that raise the risk of early-onset IBD, on chromosomes 16, 22, 10, 2 and 19. The most significant finding was at chromosome locus 16p11, which contains the IL27 gene that carries the code for a cytokine, or signaling protein, also called IL27.

Kugathasan says one strength of the current study, in addition to its large sample size, is the collaboration of many leading pediatric IBD research programs, which included Emory, The Children’s Hospital of Philadelphia, the Hospital for Sick Children of the University of Toronto; the University of Edinburgh, UK; Cedars Sinai Medical Center, Los Angeles; and the IRCCS-CSS Hospital, S. Giovanni Rotondo, Italy.

The study, “Common variants at five new loci associated with early-onset inflammatory bowel disease,” was published in the November 2009 online issue of Nature Genetics.

Learn more about Kugathasan’s work at Emory.

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Congrats to the telomere/ribosome Nobelists

Congratulations to Elizabeth Blackburn, Carol Greider and Jack Szostak for the 2009 Nobel Prize in medicine. The award is for their work on telomeres, the protective caps on the ends of chromosomes that shorten with every cell division and need specialized enzymes to be replenished.

Greider, Blackburn and Szostak discovered telomerase, the enzyme that copies the ends of chromosomes using a special RNA template. Telomerase is turned off in most human cells, but cancer cells often must reactivate it so that they can keep dividing like crazy.

The discovery of telomerase has led to new leads for potential anticancer drugs. This is a good example of the impact basic research can have on medicine, since the prize-winners were not thinking about anticancer drugs in the 1980s when they were doing their work.

Telomeres are specialized protective structures at the ends of chromosomes

Telomeres are specialized protective structures at the ends of chromosomes

The telomere trio’s work relates to several lines of research at Emory.

Immunologist Cornelia Weyand and her colleagues have shown that the telomeres of T cells are abnormally shortened in patients with rheumatoid arthritis. In effect, their cells’ chromosomes are prematurely aged. This result provides some hints on how to treat autoimmune diseases.

If blood-forming stem cells can’t keep their telomeres in shape, they can’t continue to regenerate the blood. Pathologist Hinh Ly’s research has made a connection between genetic defects in telomere maintenance and bone marrow failure syndrome in human patients.

Geneticists Christa Martin and David Ledbetter have been probing the relationship between mutations or recombination in the regions of the chromosome adjacent to telomeres and developmental disorders such as autism and mental retardation.

The 2009 Nobel Prize in Chemistry, awarded to Venki Ramakrishnan, Tom Steitz and Ada Yonath, has an even stronger connection to Emory. Christine Dunham, part of a growing contingent of crystallographers here, worked on ribosome structure in Ramakrishnan’s lab at the MRC.

The ribosome is a machine that decodes mRNA and produces protein step by step

The ribosome is a machine that decodes mRNA and produces protein step by step

She is examining the molecular details of how antibiotics and viruses perturb ribosome function.

What the two Nobels have in common is that they both honor work on molecular machines containing RNA, connections to the ancient, shadowy “RNA world“.

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A shift in how geneticists study complex diseases

An Emory project studying schizophrenia genetics is a good example of how geneticists are shifting from examining small, common mutations to “rare variants” when studying complex diseases.

From studies of twins, doctors have known for a long time that heredity plays a big role in causing schizophrenia. But dissecting out which genes are the most important has been a challenge.

Three landmark studies on schizophrenia genetics published this summer illustrate the limitations of “genome wide association” studies. New York Times science reporter Nicholas Wade summarized the results in this way:

“The principal news from the three studies is that schizophrenia is caused by a very large number of errant genes, not a manageable and meaningful handful.”

The limitations from this type of study comes from the type of markers geneticists are looking at, says Steve Warren, chair of the human genetics department at Emory.

Genome wide association studies usually follow SNPs — single nucleotide polymorphisms. This is a one-letter change somewhere in the genetic code that is found in a fraction of the population. It’s not a big change in the genome, and in many cases, it will have a small effect on disease risk.

Researchers looking for the genes behind complex diseases such as schizophrenia and autism are starting to shift their efforts away from genome wide association studies, Warren says.

Think of a SNP like a misspelling of a word in a certain place in a book, he says. In contrast, the “rare variants” geneticists are starting to study more intensively are more like printers’ errors or missing pages. The rapid sequencing technology that allows scientists to investigate these changes easily is just now coming on line, he says.

One example of these rare variants is DiGeorge syndrome, a deletion that gets rid of dozens of genes on one copy of chromosome 22. Children who have this chromosomal alteration often have anatomical changes to their heart and palate. But it also substantially increases the risk of schizophrenia – to about 25% lifetime risk. That’s a lot more than any of the SNPs identified this summer.

Working with several Emory colleagues, researcher Brad Pearce is planning to examine the genes missing in DiGeorge syndrome in several groups of patients: people with DiGeorge, patients with “typical” schizophrenia and people at high risk of developing schizophrenia.

An article in this spring’s Emory Health describes genetic research on autism. Several of the researchers mentioned there, such as geneticist Joe Cubells and psychiatrist Opal Ousley, are involved in this schizophrenia project as well, because deletions on chromosome 22 also lead to an increased risk of autism.

Pearce’s project is funded through American Recovery and Reinvestment Act money from the NIH.

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