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Newswise NEW BRUNSWICK, N.J. The National Institute on Drug Abuse (NIDA) has awarded a five-year contract worth up to $19 million to RUCDR Infinite Biologics, a unit of Rutgers Human Genetics Institute of New Jersey. The worlds largest university-based biorepository, RUCDR Infinite Biologics is located on Rutgers Busch Campus in Piscataway.

Under the new contract, RUCDR will expand and enhance the services it provides through its NIDA Center for Genetic Studies, which it has supported for the past 15 years. The Center provides genomic services to NIDA-funded researchers.

Because the Rutgers operation has been continuously acquiring new equipment and systems, and refining the techniques its staff employs, the genomic testing and analysis for NIDA studies will be significantly more sophisticated than in previous years, according to Jay Tischfield, CEO and founder of RUCDR Infinite Biologics and the Duncan and Nancy Macmillan Distinguished Professor of Genetics at Rutgers.

Under this new contract with NIDA, we will be utilizing innovative technologies to support research, such as microarray typing and high-throughput sequencing for genomic and epigenomic analyses, Tischfield said. We also will support NIDA projects that employ induced pluripotent stem cells to facilitate the molecular and cellular study of brain development and addiction processes.

The NIDA Center for Genetic Studies is a scientific resource for informing the human molecular genetics of drug addiction. The center stores clinical and diagnostic data, pedigree information and biomaterials (including DNA, plasma, cryopreserved lymphocytes and/or cell lines) from human subjects participating in studies that form the NIDA Genetics Consortium.

The contract includes receiving data along with blood samples or other biospecimens from funded grants and/or contracts supporting research on the genetics of addiction and addiction vulnerability; processing these data and materials to create databases, serum, DNA, RNA and cell lines; distributing all data and materials in the NIDA Human Genetics Initiative to qualified investigators; and maintaining storage of data and biomaterials.

RUCDR has a similar agreement with the National Institute of Mental Health to support the NIMH Center for Collaborative Genomics Research on Mental Disorders, which provides services to NIMH-funded scientists studying mental disorders. A $44.5 million, five-year cooperative agreement renewal was awarded in 2013.

About RUCDR Infinite Biologics RUCDR Infinite Biologics offers a complete and integrated selection of biological sample processing, analysis and biorepository services to government agencies, academic institutions, foundations and biotechnology and pharmaceutical companies within the global scientific community. RUCDR Infinite Biologics provides DNA, RNA and cell lines with clinical data to hundreds of research laboratories for studies on mental health and developmental disorders, drug and alcohol abuse, diabetes and digestive, liver and kidney diseases. RUCDR completed an $11.8 million expansion and renovation of its facilities last year. Read more at http://www.rucdr.org.

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Rutgers' Human Genetics Institute Wins $19 Million Federal Contract

PUBLIC RELEASE DATE:

11-May-2014

Contact: Mark Thomson press.office@sanger.ac.uk 01-223-492-384 Wellcome Trust Sanger Institute

In the most comprehensive exploration of the association between genetic variation and human metabolism, researchers have provided unprecedented insights into how genetic variants influence complex disease and drug response through metabolic pathways.

The team has linked 145 genetic regions with more than 400 molecules involved in human metabolism in human blood. This atlas of genetic associations with metabolism provides many new opportunities to understand the molecular pathways underlying associations with common, complex diseases.

Metabolic molecules, known as metabolites, include a wide range of different molecules such as vitamins, lipids, carbohydrates and nucleotides. They make up parts of, or are the products of, all biological pathways. This new compendium of associations between genetic regions and metabolite levels provides a powerful tool to identify genes that could be used in drug and diagnostic tests for a wide range of metabolic disorders.

"The sheer wealth of biological information we have uncovered is extraordinary," says Dr Nicole Soranzo, senior author from the Wellcome Trust Sanger Institute. "It's exciting to think that researchers can now take this freely available information forward to better understand the molecular underpinnings of a vast range of metabolic associations."

The team measured the levels of a large number of metabolites, both those already known and many as yet uncharacterised, from many different metabolic pathways.

They found 90 new genetic associations, trebling the figure of known genetic associations with metabolites. In many of the cases where metabolites were known, the team were able to link the molecule to gene function. They mapped genes to their likely substrates or products and linked these to a number of conditions, including hypertension, cardiovascular disease and diabetes.

They further found that these genetic regions map preferentially to genes that are currently targeted in drug-development programmes. This provides new opportunities to assess genetic influences on drug response, and to assess the potential for existing drugs to treat a wide range of diseases.

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Atlas shows how genes affect our metabolism

Opinion The Weekend Read Illustration by Umberto Mischi for TIME The New York Times' former science editor on research showing that evolution didn't stop when human history began.

A longstanding orthodoxy among social scientists holds that human races are a social construct and have no biological basis. A related assumption is that human evolution halted in the distant past, so long ago that evolutionary explanations need never be considered by historians or economists.

New analyses of the human genome have established that human evolution has been recent, copious, and regional.In the decade since the decoding of the human genome, a growing wealth of data has made clear that these two positions, never at all likely to begin with, are simply incorrect. There is indeed a biological basis for race. And it is now beyond doubt that human evolution is a continuous process that has proceeded vigorously within the last 30,000 years and almost certainly though very recent evolution is hard to measure throughout the historical period and up until the present day.

New analyses of the human genome have established that human evolution has been recent, copious, and regional. Biologists scanning the genome for evidence of natural selection have detected signals of many genes that have been favored by natural selection in the recent evolutionary past. No less than 14% of the human genome, according to one estimate, has changed under this recent evolutionary pressure.

Analysis of genomes from around the world establishes that there is a biological basis for race, despite the official statements to the contrary of leading social science organizations. An illustration of the point is the fact that with mixed race populations, such as African Americans, geneticists can now track along an individuals genome, and assign each segment to an African or European ancestor, an exercise that would be impossible if race did not have some basis in biological reality.

Racism and discrimination are wrong as a matter of principle, not of science. That said, it is hard to see anything in the new understanding of race that gives ammunition to racists. The reverse is the case. Exploration of the genome has shown that all humans, whatever their race, share the same set of genes. Each gene exists in a variety of alternative forms known as alleles, so one might suppose that races have distinguishing alleles, but even this is not the case. A few alleles have highly skewed distributions but these do not suffice to explain the difference between races. The difference between races seems to rest on the subtle matter of relative allele frequencies. The overwhelming verdict of the genome is to declare the basic unity of humankind.

Human evolution has not only been recent and extensive, it has also been regional. The period of 30,000 to 5,000 years ago, from which signals of recent natural selection can be detected, occurred after the splitting of the three major races, so represents selection that has occurred largely independently within each race. The three principal races are Africans (those who live south of the Sahara), East Asians (Chinese, Japanese, and Koreans), and Caucasians (Europeans and the peoples of the Near East and the Indian subcontinent). In each of these races, a different set of genes has been changed by natural selection. This is just what would be expected for populations that had to adapt to different challenges on each continent. The genes specially affected by natural selection control not only expected traits like skin color and nutritional metabolism, but also some aspects of brain function. Though the role of these selected brain genes is not yet understood, the obvious truth is that genes affecting the brain are just as much subject to natural selection as any other category of gene.

Human social structures change so slowly and with such difficulty as to suggest an evolutionary influence at work.What might be the role of these brain genes favored by natural selection? Edward O. Wilson was pilloried for saying in his 1975 book Sociobiology that humans have many social instincts. But subsequent research has confirmed the idea that we are inherently sociable. From our earliest years we want to belong to a group, conform to its rules and punish those who violate them. Later, our instincts prompt us to make moral judgments and to defend our group, even at the sacrifice of ones own life.

Anything that has a genetic basis, such as these social instincts, can be varied by natural selection. The power of modifying social instincts is most visible in the case of ants, the organisms that, along with humans, occupy the two pinnacles of social behavior. Sociality is rare in nature because to make a society work individuals must moderate their powerful selfish instincts and become at least partly altruistic. But once a social species has come into being, it can rapidly exploit and occupy new niches just by making minor adjustments in social behavior. Thus both ants and humans have conquered the world, though fortunately at different scales.

Conventionally, these social differences are attributed solely to culture. But if thats so, why is it apparently so hard for tribal societies like Iraq or Afghanistan to change their culture and operate like modern states? The explanation could be that tribal behavior has a genetic basis. Its already known that a genetic system, based on the hormone oxytocin, seems to modulate the degree of in-group trust, and this is one way that natural selection could ratchet the degree of tribal behavior up or down.

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What Science Says About Race and Genetics

Nicholas Wade, a leading science writer whose specialty is human evolution, likes to ask interesting questions. Here are some examples:

Why has the West been the most exploratory and innovative civilization in the world for the past 500 years?

Why are Jews of European descent so massively overrepresented among the top achievers in the arts and sciences?

Why is the Chinese diaspora successful all around the world?

Why is it so difficult to modernize tribal societies?

Why has economic development been so slow in Africa?

Contemporary thinkers have offered lots of provocative answers for such questions. Its all about geography. Or institutions. Or rice culture. Or the devastating legacy of colonialism. Or Jewish mothers. Now comes another explanation, one that bravely explores the highly dangerous elephant in the room. Mr. Wade argues that human history has also been profoundly influenced by genetics.

Part of his new book, A Troublesome Inheritance: Genes, Race and Human History, is a summary of new findings in genetic science, and part of it is highly speculative. All of it is bound to be deeply unpopular among social scientists, because it challenges their entrenched belief that race is nothing more than a social construct. The wide diversity in human societies around the world can be explained entirely by culture, they insist. Were all the same under the skin.

Except were not quite. Since the sequencing of the human genome in 2003, evidence of subtle genetic differences has been piling up. As our ancestors branched out of Africa, different groups of people evolved in slightly different ways to adapt to local conditions. The most successful of those people passed on their adaptations to their offspring. The variations in human DNA correspond quite precisely to what we think of as the major races. They are associated not just with differences in hair and skin colour, but also with a range of other physical and (probably) behavioural traits. Another astonishing fact is that 14 per cent of the human genome has been under natural selection strong enough to be detectable. The evidence also shows that evolution can proceed remarkably quickly, and has never stopped. (The Tibetan adaptation to high altitudes is just 3,000 years old.) Human evolution has been recent, copious and regional, Mr. Wade says in his book.

Mr. Wade knows he may be stepping on a land mine. In the not so distant past, ideas about racial difference have been used to justify everything from slavery to extermination. A lot of people think its safer to deny such differences exist. The subject is so taboo that any discussion of racial differences is widely considered tantamount to racism itself. Geographer Jared Diamond (author of Guns, Germs and Steel, which contends that geography explains everything) has said that only people capable of thinking the Earth is flat believe in the existence of human races. So that makes Mr. Wade, who has written for The New York Times for 20 years, either foolhardy or fearless. The idea that human populations are genetically different from one another has been actively ignored by academics and policy makers for fear that such inquiry might promote racism, he writes.

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What if race is more than a social construct?

Applications Of Human Genetics In Science

Human genetics provides critical understanding of the occurrence, diagnosis and treatment of various genetic disorders and diseases which have a genetic basis. It is an integral part of several overlapping scientific fields that include: traditional genetics, cytogenetics, molecular and biochemical genetics, bioinformatics, genomics, population genetics, research and pharmaceuticals, clinical genetics and genetic counseling.

Human genetics has contributed to vast developments and advances in scientific fields like human genomics through successful projects like the human genome project. This particular field emphasizes the application of genomic approaches to provide better understanding of human genetic diseases, the process of new drug discovery and studies of variable drug reaction due to different genetic make-up in persons.

A better understanding of human genetics has also resulted in cooperative research between academicians and practitioners in the clinical and pharmaceutical industries as both have common aims of maximizing the potential scientific benefits of the Human Genome Project. The study has lead to advances in the science of pharmacogenomics, expression profiling, proteomics, use of bioinformatics and animal models in testing new drugs and therapeutic treatments.

Human genetics has provided details about how genes are involved in genetic disorders. This in turn has lead to advances in the development of improved therapeutic treatments and appropriate management of these genetic disorders as well as providing invaluable genetic counseling to affected families on the risk factors. Since there is better understanding of how genetics is involved in disease, it is possible to now carry of genetic testing for newborn infants. Early diagnosis helps in better treatment and management of genetic disorders.

The development of new and advanced techniques like gene cloning has provided the use of gene therapy in clinical practice. Cloning has made it possible to replace any defective gene with in vitro, corrected copies to treat genetic disorders. Human genetics is both a basic as well as applied science. As a basic science, human genetics explores the results obtained in experimental data on laws of genetic transmission and how these affect the development and function of human beings.

Human genetics is also a practical, applied science since it not only evaluates the theoretical implications of experimental data, it also uses this data to equate the value for practical applications in human welfare. This is done in scientific fields like bioinformatics which has helped to sort the vast amounts of genetic data obtained in the human genome project into useful information on the various genes, their functions and relationships to disease.

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What Is Human Genetics: How Important Is It To Science Today?

Human Genetics Project
Schizophrenia Project iMovie.

By: Daniel Duffin

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Human Genetics Project - Video

This article is about the general scientific term. For the scientific journal, see Genetics (journal).

Genetics (from the Ancient Greek genetikos meaning "genitive"/"generative", in turn from genesis meaning "origin"),[1][2][3] a field in biology, is the science of genes, heredity, and variation in living organisms.[4][5]

Genetics is the process of trait inheritance from parents to offspring, including the molecular structure and function of genes, gene behavior in the context of a cell or organism (e.g. dominance and epigenetics), gene distribution and variation and change in populations. Given that genes are universal to living organisms, genetics can be applied to the study of all living systems, including bacteria, plants, animals, and humans. The observation that living things inherit traits from their parents has been used since prehistoric times to improve crop plants and animals through selective breeding.[6] The modern science of genetics, seeking to understand this process, began with the work of Gregor Mendel in the mid-19th century.[7]

Mendel observed that organisms inherit traits by way of discrete "units of inheritance". This term, still used today, is a somewhat ambiguous definition of a gene. A more modern working definition of a gene is a portion (or sequence) of DNA that codes for a known cellular function. This portion of DNA is variable, it may be small or large, have a few subregions or many subregions. The word "gene" refers to portions of DNA that are required for a single cellular process or single function, more than the word refers to a single tangible item. A quick idiom that is often used (but not always true) is "one gene, one protein" meaning a singular gene codes for a singular protein type in a cell. Another analogy is that a "gene" is like a "sentence" and "nucleotides" are like "letters". A series of nucleotides can be put together without forming a gene (non-coding regions of DNA), like a string of letters can be put together without forming a sentence (babble). Nonetheless, all sentences must have letters, like all genes must have nucleotides.

The sequence of nucleotides in a gene is read and translated by a cell to produce a chain of amino acids which in turn spontaneously folds into a protein. The order of amino acids in a protein corresponds to the order of nucleotides in the gene. This relationship between nucleotide sequence and amino acid sequence is known as the genetic code. The amino acids in a protein determine how it folds into its unique three-dimensional shape, a structure that is ultimately responsible for the protein's function. Proteins carry out many of the functions needed for cells to live. A change to the DNA in a gene can change a protein's amino acid sequence, thereby changing its shape and function and rendering the protein ineffective or even malignant (as, for example, in sickle cell anemia). Changes to genes are called mutations.

Genetics acts in combination with an organism's environment and experiences to influence development and behavior. Genes may be activated or inactivated, as determined by a cell's or organism's intra- or extra-cellular environment. For example, while genes play a role in determining human height, an individual's nutrition and health during childhood also have a large effect.

Although the science of genetics began with the applied and theoretical work of Gregor Mendel in the mid-19th century, other theories of inheritance preceded Mendel. A popular theory during Mendel's time was the concept of blending inheritance: the idea that individuals inherit a smooth blend of traits from their parents.[8] Mendel's work provided examples where traits were definitely not blended after hybridization, showing that traits are produced by combinations of distinct genes rather than a continuous blend. Blending of traits in the progeny is now explained by the action of multiple genes with quantitative effects. Another theory that had some support at that time was the inheritance of acquired characteristics: the belief that individuals inherit traits strengthened by their parents. This theory (commonly associated with Jean-Baptiste Lamarck) is now known to be wrongthe experiences of individuals do not affect the genes they pass to their children,[9] although evidence in the field of epigenetics has revived some aspects of Lamarck's theory.[10] Other theories included the pangenesis of Charles Darwin (which had both acquired and inherited aspects) and Francis Galton's reformulation of pangenesis as both particulate and inherited.[11]

Modern genetics started with Gregor Johann Mendel, a German-Czech Augustinian monk and scientist who studied the nature of inheritance in plants. In his paper "Versuche ber Pflanzenhybriden" ("Experiments on Plant Hybridization"), presented in 1865 to the Naturforschender Verein (Society for Research in Nature) in Brnn, Mendel traced the inheritance patterns of certain traits in pea plants and described them mathematically.[12] Although this pattern of inheritance could only be observed for a few traits, Mendel's work suggested that heredity was particulate, not acquired, and that the inheritance patterns of many traits could be explained through simple rules and ratios.

The importance of Mendel's work did not gain wide understanding until the 1890s, after his death, when other scientists working on similar problems re-discovered his research. William Bateson, a proponent of Mendel's work, coined the word genetics in 1905.[13][14] (The adjective genetic, derived from the Greek word genesis, "origin", predates the noun and was first used in a biological sense in 1860.)[15] Bateson popularized the usage of the word genetics to describe the study of inheritance in his inaugural address to the Third International Conference on Plant Hybridization in London, England, in 1906.[16]

After the rediscovery of Mendel's work, scientists tried to determine which molecules in the cell were responsible for inheritance. In 1911, Thomas Hunt Morgan argued that genes are on chromosomes, based on observations of a sex-linked white eye mutation in fruit flies.[17] In 1913, his student Alfred Sturtevant used the phenomenon of genetic linkage to show that genes are arranged linearly on the chromosome.[18]

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Genetics - Wikipedia, the free encyclopedia

When every call of "Spot, come!" sends your dog running in the opposite direction, it's easy to be cynical about how well canines listen. But a new study shows dogs and even puppies are capable of understanding subtle and indirect cues in human voices, a finding with implications for how dogs came to be deeply attuned to human behavior.

The study found that dogs of all shapes and sizes could home in on a treat based entirely on the direction in which a hidden human was speaking. Human babies can do the same, but our clever cousins the chimpanzees can't, according to a 2012 study.

"The message of this study is not that chimps are stupid and dogs are smart," says lead study author Federico Rossano of Germany's Max Planck Institute for Evolutionary Anthropology. "What it tells us is that dogs pay special attention to communicative signals from humans. ? That's a sign of how connected we are."

The new findings are "fascinating," says Evan MacLean of Duke University's Canine Cognition Center but also "surprising ? because it's a very subtle cue. When I was reading the paper, I was wondering, 'Gosh, can I do this?' " Scientists have long known that dogs are extraordinarily sensitive to visually based social cues from humans, but this is the first evidence they're sensitive to auditory cues, MacLean says.

Rossano and his colleagues had two criteria for their experimental subjects: They had to be comfortable being left with strangers, and they had to be food-motivated. Dogs ranging from Jack Russell terriers to German shepherds watched as an experimenter held up a piece of kibble and said, "Pay attention!" The experimenter ducked behind a barrier, surreptitiously placed the food in one of two black boxes and moved the boxes so the dog could see them.

Then came the crucial test. The hidden experimenter sat close to the empty box but faced the box holding the food and called, "Oh look, look there, this is great!" Instead of heading for the box close to the source of the voice, the dogs trotted over to the food-laden box the experimenter was speaking toward. So the animals seemed to understand that the human was talking about one of the boxes, rather than summoning the dog to the food, and the dogs interpreted the direction of speech to figure out the location of the box with the treat.

Adult dogs did well at this task, but puppies only 8 to 14 weeks old did even better ?? if they had spent plenty of time with people. Puppies that had lived mostly with their litter mates, on the other hand, flubbed the test. These results show that dogs need some kind of learning ?? perhaps in the form of socialization with people - to pick up the clues embedded in a human voice, Rossano says. The ability of such young dogs to do so well suggests dogs have a genetic predisposition to focus on humans and the signals they convey, the researchers say in this week's issue of the Proceedings of the Royal Society B: Biological Sciences.

"In the debate that says, 'It's all about socialization' or 'It's all about genetics,' the answer, as always, is somewhere in the middle," Rossano says.

The results support the idea that socialization is key, agrees cognitive psychologist Monique Udell of Oregon State University. But she says she doesn't think the study helps confirm that dogs are genetically tuned to follow every twitch of the human face, every syllable of human speech. Perhaps dogs are simply superior at reading communicative cues of all kinds, not just those of humans, Udell says.

It's possible that the dogs just made a beeline for the box where the sound was loudest, says dm Miklsi, head of the Family Dog Project at Hungary's Etvs Lornd University. Rossano responds that from the dogs' vantage point, the volume of sound barely differed from one end of the barrier to the other, and it's unlikely the dogs would immediately learn to associate a louder sound with food. He says he thinks the canines use other clues encoded in the sound to figure out where the speaker directs her words. That orientation acts like a finger pointing to the food.

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Dogs pick up directions from human voices

Autopsies have revealed that some individuals develop the cellular changes indicative of Alzheimer's disease without ever showing clinical symptoms in their lifetime.

Vanderbilt University Medical Center memory researchers have discovered a potential genetic variant in these asymptomatic individuals that may make brains more resilient against Alzheimer's.

"Most Alzheimer's research is searching for genes that predict the disease, but we're taking a different approach. We're looking for genes that predict who among those with Alzheimer's pathology will actually show clinical symptoms of the disease," said principal investigator Timothy Hohman, Ph.D., a post-doctoral research fellow in the Center for Human Genetics Research and the Vanderbilt Memory and Alzheimer's Center.

The article, "Genetic modification of the relationship between phosphorylated tau and neurodegeneration," was published online recently in the journal Alzheimer's and Dementia.

The researchers used a marker of Alzheimer's disease found in cerebrospinal fluid called phosphorylated tau. In brain cells, tau is a protein that stabilizes the highways of cellular transport in neurons. In Alzheimer's disease tau forms "tangles" that disrupt cellular messages.

Analyzing a sample of 700 subjects from the Alzheimer's Disease Neuroimaging Initiative, Hohman and colleagues looked for genetic variants that modify the relationship between phosphorylated tau and lateral ventricle dilation -- a measure of disease progression visible with magnetic resonance imaging (MRI). One genetic mutation (rs4728029) was found to relate to both ventricle dilation and cognition and is a marker of neuroinflammation.

"This gene marker appears to be related to an inflammatory response in the presence of phosphorylated tau," Hohman said.

"It appears that certain individuals with a genetic predisposition toward a 'bad' neuroinflammatory response have neurodegeneration. But those with a genetic predisposition toward no inflammatory response, or a reduced one, are able to endure the pathology without marked neurodegeneration."

Hohman hopes to expand the study to include a larger sample and investigate gene and protein expression using data from a large autopsy study of Alzheimer's disease.

"The work highlights the possible mechanism behind asymptomatic Alzheimer's disease, and with that mechanism we may be able to approach intervention from a new perspective. Future interventions may be able to activate these innate response systems that protect against developing Alzheimer's symptoms," Hohman said.

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Exploring genetics behind Alzheimer's resiliency

By Vanessa Miller, The Gazette

Some patients with a suspected genetic disorder will go on what medical professionals call a diagnostic odyssey to find the cause of their symptoms.

But those explorations, on occasion, can come up empty, frustrating patients and prompting health care providers to seek outside expertise.

Last month, the Iowa Institute of Human Genetics at the University of Iowa began offering such expertise through whole exome sequencing.

The genetic test, which analyzes a portion of about 20,000 genes in the human genome in hopes of helping practitioners diagnose and treat a patient, is among several initiatives the institute is pursuing to further personalize medicine for patients in Iowa and across the country.

The research we do here is to develop new tests to bring precision medicine to the state, said Colleen Campbell, assistant director of the Iowa Institute of Human Genetics and associate with the UI Department of Otolaryngology.

Researchers with the institute also are conducting tests around secondary findings from exome sequencing the discovery of variants in genes unrelated to a patient's primary condition and how a person's genes interact with prescribed medication, including pain medication.

The technology is new, but officials with the Iowa institute said genetic sequencing one day could become so widely used that every infant will have it done as part of the standard newborn screen. Then, as a child grows, practitioners will be able to use the information to determine what type of pain medication to prescribe and at what level, for example.

Our focus is to bring innovation to the state, Campbell said. We want patients to be more informed when they go to the doctor and are offered these new tests. And we want to be able to offer this as a tool to doctors.

The Iowa Institute of Human Genetics is among only a dozen or so institutions nationally that offer whole exome sequencing to physicians wanting to order the test on behalf of a patient.

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University of Iowa hopes to better diagnose and treat patients