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For DNA Day, learn about Emory genomic advances

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Holly Korschun

Georgia Governor Nathan Deal has proclaimed April 25 “DNA Day in Georgia.” The recognition is part of the National Institutes of Health (NIH) DNA Day celebrating the completion of sequencing the human genome 15 years ago. The National Human Genome Research Institute (NHGRI), part of the NIH, is leading a month-long recognition of DNA research, including “15 for 15” advances made possible by genomics. This list is available at the NHGRI website.

The NIH also is mapping DNA-related recognition events around the country, and the map includes a red star in Atlanta for “State Proclamation: DNA Day in Georgia.” Georgia is one of only five states to have such a proclamation

Staff from Emory University School of Medicine, the Marcus Autism Center, and Children’s Healthcare of Atlanta worked with Governor Deal’s office to arrange the proclamation. Chris Gunter, Emory associate professor of pediatrics and human genetics and director of communications operations at Marcus Autism Center was an editor at the journal Nature 15 years ago when the genome sequencing was completed, and she worked with the NHGRI to announce the breakthrough then. This year, she worked with NHGRI to develop its list of 15 genomic advances.

"It was an honor to work with the NHGRI again to celebrate everything that the human genome sequence has made possible,” says Gunter. “For example, we are now able to diagnose some conditions prenatally just by taking blood from the mother's arm, something that seemed like science fiction in 2003. We have also seen millions of people learn more about themselves and their families through DNA testing. It's been an amazing time to be a geneticist, and I'm so glad that April 25 will officially be DNA Day in Georgia."

Stephen Warren, PhD, chair of the Department of Human Genetics at Emory University School of Medicine, and director of Emory’s NIH-supported fragile X research center, is a genomics pioneer. In 1991, Warren led an international team that isolated the FMR1 gene responsible for fragile X syndrome, the most common form of inherited intellectual and developmental disabilities.

“As someone who was a ‘gene hunter’ prior to the human genome project, says Warren, “it is difficult to put into words the differences between the ‘before’ and ‘after’ world of human genetics. Although there are numerous examples of how the human genome project has changed medicine, the ability to provide seriously ill or disabled patients and families a diagnosis through genomics after a long medical odyssey has had a profound impact.

“We have only scratched the surface of what we will learn in the future,” notes Warren. “Cancer, for example, will increasingly become a manageable disease as we advance our understanding of the genome architecture of individual tumors. I also believe genome sequencing will increasingly uncover genome variation that is protective for certain diseases, allowing for very specific therapeutic targets.”

Genomic Advances

Following are 15 genomic advances and clinical programs from Emory and Children’s Healthcare of Atlanta, representing just part of the wide range of ongoing research:

Autism research uncovers genetics’ role in guiding young children’s perception of the world
A 2017 study by researchers at Emory School of Medicine, Marcus Autism Center, Children's Healthcare of Atlanta, and Washington University School of Medicine in St. Louis found striking evidence for the strong role of genetics in shaping a fundamental feature of human behavior: how children pay attention to the world -- what they look at, and what they don't -- including how that behavior is altered in autism.

22q11.2 Deletion Syndrome: research and clinical leadership
Emory University was one of the leading institutions to uncover the health impact of 22q11.2 deletion syndrome, an inherited multisystem disorder that results in birth defects and developmental and behavioral differences across the life span. Children’s Healthcare of Atlanta and Emory now have one of the nation’s largest and most comprehensive clinics for the diagnosis and advanced treatment of 22q11.2 deletion syndrome.

JScreen: Screening prospective parents for more than 200 heritable diseases
JScreen, based in Emory School of Medicine's Department of Human Genetics, provides convenient, affordable access to help prospective parents plan for healthy families before pregnancy. A simple, at-home saliva test screens for more than 200 disease genes that could be passed on to children. JScreen's test is significantly more comprehensive than other tests ordered online. JScreen functions under the direction of a physician specializing in genetics, and the cost includes genetic counseling via phone or secure video-conference.

Mutations predict response to first-line therapy in non-small-cell lung cancer
Winship Cancer Institute researchers have discovered that patients with non-small-cell lung cancer have a better response to immune therapy if they have a larger number of mutations in their tumors. This study is one of many clinical trials going on at Emory and Children’s to determine the most effective therapies based on the patient’s genome.

Exploring the whale shark genome
Through a collaborative project between Emory School of Medicine and the Georgia Aquarium, researchers are working to sequence the ancient whale shark genome. The team is particularly interested in exploring the immune system of these ancient creatures and how that relates to the immune system of humans.

Emory Genetic Counseling Training Program
The Emory University School of Medicine Genetic Counseling Training Program, established in 2011, is the only program of its kind in Georgia. Graduates receive a Master of Medical Science (MMSc) degree in Human Genetics and Genetic Counseling and are qualified to sit for the American Board of Genetic Counseling certification examination. Genetic counselors are now helping patients in multiple locations across the Emory and Children’s systems.

Pig model of Huntington's offers advantages for testing treatments
Using genetic engineering technology, a team of Emory scientists, along with colleagues in China, has established a pig model of Huntington's disease, an inherited neurodegenerative disease. The researchers anticipate that the pigs could be a practical way to test treatments for Huntington’s, which is caused by a gene encoding a toxic protein that causes the death of brain cells. The research was published online in the journal Cell.

Investigating genetics of early Alzheimer’s disease in families
Emory neurologists are studying families with high rates of Alzheimer’s disease – searching for unique characteristics ranging from brain changes and biomarkers to potentially causative genes, with the aim of testing medications and therapies that might slow or halt Alzheimer’s onset in pre-symptomatic carriers.

All of Us national precision medicine project
The National Institutes of Health chose Emory to join the All of Us Research Program, a national effort to discover new information about diverse, and often underrepresented populations that can help more precisely prevent and target disease and empower people to actively manage their health and healthcare. All of Us includes more than 25 collaborating institutions nationwide. Emory is part of the Southeast Enrollment Center (SEEC) network, which includes the University of Miami, Morehouse School of Medicine, and University of Florida. SEEC will enroll approximately 20,000 participants as part of the national All of Us database.

New genetic risk factor found for schizophrenia
Emory researchers identified 3q29 deletion syndrome as a genetic mutation associated with a 40-fold increased risk for schizophrenia and a range of other neuropsychiatric conditions, including mild to moderate intellectual disability, autism and anxiety. The 3q29 deletion may be the single-largest molecular risk factor for schizophrenia. The research team is studying the biological processes disrupted by the mutation, potentially leading to new treatments. The Emory team has established an international 3q29 deletion registry that includes over 100 carriers -- the largest cohort ever assembled.

Researchers find clues to AIDS in sooty mangabey genome
Sooty mangabeys, a monkey species found in West Africa, can be infected by SIV, a relative of HIV, yet avoid developing AIDS-like disease. To learn how sooty mangabeys achieve this important health feat, a Yerkes National Primate Research Center-led team of scientists has sequenced the sooty mangabey genome. By comparing it with the genome of humans and other nonhuman primates, the team has found clues that may help develop vaccines or better treatments for people infected with HIV.

The role of genetics in risk for addiction
Researchers in an Emory behavioral genetics lab are investigating what makes some people addicted to drugs or alcohol, and not others. The research aims to understand how genetic differences contribute to a generalized vulnerability to addiction, first by studying existing DNA samples from hundreds of thousands of people who self-report drug use or those being clinically treated for addiction, and pinpointing regions in the human genome that confer susceptibility to addiction. Genetic evidence will be gathered across multiple species, including studies conducted elsewhere, in order to prioritize genes that could explain addictive behaviors. The researchers plan to develop a predictive model on genetic risk for substance abuse.

Genome study identifies risk genes in African Americans with inflammatory bowel disease
In the first genome-wide association study of genetic risk factors for inflammatory bowel disease (IBD) in African Americans, an Emory and Children’s-led research team identified two regions of the genome associated with ulcerative colitis in people of African descent. This is particularly valuable because most medical research has focused on European populations, and genetic factors leading to IBD are not the same in every population.

NIH supports Emory’s National Fragile X Syndrome Research Center
The NIH supports Emory investigators in a national center studying fragile X syndrome-associated disorders and working toward developing effective treatments. Fragile X syndrome, resulting from the complete silencing of the FMR1 gene, is the most common inherited cause of intellectual disability in humans, but other changes in the same gene can lead to ovarian failure and neurogenerative disorders.

International team discovers genetic mutation for digestive and liver diseases
Researchers from Emory University School of Medicine and Children’s Healthcare of Atlanta, working with colleagues from Makassed Hospital, Al-Quds University and Hadassah Medical Center, Hebrew University of Jerusalem studied a family with two children from the Palestinian territories who suffer from congenital diarrhea and liver disease in children. They used genomic technology to identify a specific mutation in the gene SLC15B, opening up the prospect of detection and therapy.

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