Monthly Archives: June 2017

Theme: Novel Approaches to Unraveling the Human Genome and Genetic Disorders

Human Genetics Congress 2017 welcomes you to attend the 3rd World Congress on Human Genetics & Genetic Disorders which is going to be held at Toronto, Canada during October 20-21, 2017 with the theme of Novel Approaches to Unraveling the Human Genome and Genetic Disorders We cordially invite all the participants interested in sharing their knowledge and research in the arena of study of organisms and their relationship with Life Science.

Human Genetics do have boundaries, but determining where one Genetics starts and another begins can often be a challenge. We anticipate more than 300 participants around the globe with thought provoking keynote lectures, oral and poster presentations. The attending delegates include Editorial Board Members of related journals. The scope of Human Genetic-2017 is to bring the advancements in the field of science of all the relations of Genetics, all organisms in Life Science.

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Email 1: humangeneticscongress@geneticconferences.com

Email 2: humangenetics@conferencescanada.org

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3rd World Congress on Human Genetics & Genetic Disorders - Technology Networks

FINDINGS

A new study by scientists at UCLA found that when mice eat a high-fat diet, the cells in their small intestines respond the same way they do to a viral infection, turning up production of certain immune molecules and causing inflammation throughout the body. The scientists also found that feeding the mice tomatoes containing a protein similar to that in HDL, or good cholesterol, along with the generic cholesterol drug Ezetimibe, reversed the inflammation.

The results could lead to new types of drugs, targeting the intestinal cells, to reduce peoples risk of heart attacks and strokes, or to treat other conditions linked to inflammation, including cancer and inflammatory bowel disease.

Researchers already knew that prolonged obesity can cause inflammation of the liver and fat tissues, and that this inflammation contributes to the development of diabetes and heart disease. Studies have also shown that higher levels of high-density lipoprotein, or HDL, cholesterol, reduces a persons risk of heart disease.

The UCLA research team, led by Alan Fogelman, chair of the department of medicine at the David Geffen School of Medicine at UCLA,previously developed genetically engineered tomatoes that contained 6F, a protein resembling the main protein in high-density lipoprotein. In early experiments on 6F, they found that the compound was active in the small intestines of mice, and that it reduced inflammation. But exactly how it did this was unclear.

The scientists fed either a standard chow or a high-fat, high-cholesterol Western diet to mice that were especially prone to developing clogged arteries. They also treated some of the mice with either 6F, in the form of a tomato concentrate containing the protein, Ezetimibe, or both. After two weeks, cells from the small intestines of the mice were collected and blood samples were taken. The researchers measured cholesterol levels as well as the levels of inflammatory and immune molecules in both the intestines and throughout the body.

The findings shed light on the molecular details of how high-fat diets cause inflammation in the body, by making the intestines activate the pathway normally triggered by a virus. This suggests that blocking this immune reaction as 6F and Ezetimibe do may treat inflammatory diseases and decrease peoples risk of heart attack and stroke.

The authors of the study are all faculty and researchers at UCLA, affiliated with the Department of Medicine; Department of Molecular and Medical Pharmacology; Department of Human Genetics; Department of Microbiology, Immunology & Molecular Genetics; Department of Pathology and Laboratory Medicine; Department of Obstetrics and Gynecology; Semel Institute for Neuroscience and Human Behavior; and Department of Molecular, Cell and Developmental Biology. The first author is Pallavi Mukherjee; Fogelman is the senior author.

The studywas published June 7, 2017, in the Journal of Lipid Research.

The study was funded by the United States Public Health Service (2P01 HL-30568) and the Castera, Laubisch, and Milt Grey funds at UCLA.

Alan Fogelman, Mohamad Navab and Srinivasa Reddy are principals in Bruin Pharma, which is working to commercialize apoA-I mimetics, including the 6F peptide studied in this paper; Fogelman is additionally an officer of the company.

Read more:
High-fat diet leads to same intestinal inflammation as a virus - UCLA Newsroom

An international team led by researchers from UCLA and Massachusetts General Hospital has identified the first definitive genes associated with Tourette syndrome, giving scientists a long-sought foothold on the biology of the disease.

The report in the June 21 issue of Neuron describes the discovery of rare mutations either deletions or duplications of genetic material in two neurodevelopmental genes, NRXN1 and CNTN6, in people with Tourette syndrome, a disorder characterized by multiple chronic, involuntary motor and vocal tics.

This is a first, key step in understanding the role of these genes in the disease process and ultimately in pointing the field toward possible therapeutic strategies, said Dr. Giovanni Coppola, a professor of psychiatry and neurology at UCLAs Semel Institute for Neuroscience and Human Behavior, and the studys co-senior author. All of us in the field have been trying to understand which genes increase the risk of disease.

Theres no cure for Tourette syndrome, and no one medication that is helpful to all people with Tourette syndrome or suppresses all symptoms.

Previous research has shown Tourette syndrome has a clear genetic component. But genetic risk appears to be very complex, possibly involving different genes in different individuals. Several small studies have identified genes that appear to contribute to Tourette syndrome risk, Coppola said, but none of them met the statistical threshold of significance.

For this study, researchers analyzed data collected by the Tourette Syndrome Association International Consortium for Genetics and the Gilles de la Tourette Syndrome GWAS (genome-wide association studies) Replication Initiative from more than 2,400 people with Tourette syndrome.

Of those people, only two dozen shared rare genetic mutations onNRXN1, which has a role in the development of synapses that transmit signals between neurons, orCNTN6, which is important in the development of neuronal connections involved in movement control.

To test whether these findings were specific to Tourette syndrome and not coincidence, researchers looked for the mutations in 4,100 people without Tourette syndrome. They found that the mutations were vastly predominant in people with Tourette syndrome.

The finding is also relevant to other neuropsychiatric disorders. More than 85 percent of people with Tourette syndrome have attention deficit hyperactivity disorder or obsessive-compulsive disorder, or elevated risk for mood, anxiety, major depressive and autism spectrum disorders. Next, scientists plan to study cells from people with these rare genetic variantsto understand more precisely how they are involved in these diseases.

Tourette syndrome has long been considered a model disorder to study the parts of the brain that function at the intersection of our traditional concepts of neurology and psychiatry, said Dr. Jeremiah Scharf of the psychiatric and neurodevelopmental genetics unit in the Massachusetts General Hospital departments of psychiatry and neurology and co-senior author. Identifying additional genes will give us additional points on the map to let us focus in on exactly which cells in the brain are not functioning correctly at which specific times.

John Miller, president and CEO of the Tourette Association of America, which provided support for the study, called the identification of the two genes an enormous step forward. We congratulate our colleagues on this important discovery and on the real progress it means for individuals with Tourette.

The studys first author is Alden Huang, a doctoral student in the UCLA bioinformatics program. Additional co-senior authors of the study are Dr. Carol Mathews of the University of Florida and Peristera Paschou of Purdue University. Other support for the study came from the National Institute of Neurologic Disorders and Stroke grants U01 NS040024, K02 NS085048, P30 NS062691 (Informatics Center for Neurogenetics and Neurogenomics, ICNN) and NS016648; National Institute of Mental Health grants K23 MH085057 and MH096767; and American Recovery and Reinvestment Act grant NS040024-07S.

Coppola said that he is especially grateful to patients who agreed to be part of the study. As a neurologist in Italy, where he trained, people volunteering for genetic studies would ask him, What is the possible outcome of this? and he would say, Most likely, nothing.

Now, with this studys results, Coppola can point to a success story: Next time your doctor asks you to give your DNA for testing, and tells you chances are dim for the result being relevant, keep in mind sometimes it works. And the more people enrolled, the better it works.

See original here:
Rare genetic variants found to increase risk for Tourette syndrome - UCLA Newsroom

An artists impression of Homo floresiensis.

Katrina Kenny

Just when we thought we were getting a firm grip on the place of the diminutive early human Homo floresiensis, better known as the hobbit, in our evolutionary family tree, new research keeps alive at least part of a long-held theory about the one-metre-tall hominid being a dwarf descendant of Homo erectus, the first hominid believed to have left Africa.

This hitherto widely accepted theory has been challenged of late. A study published in April and credited as the most comprehensive analysis to date of the bones of H floresiensis confidently reported that the tiny human also known as Flores Man, because his remains were discovered on the Indonesian island of Flores in 2003 was not descended from H erectus but most likely from another ancestor in Africa.

That study, led by Debbie Argue of the Australian National University (ANU), used 133 data points ranging across the skull, jaws, teeth, arms, legs and shoulders of the H. floresiensis fossil to conclude that many features were more primitive than H. erectus, and that therefore the hobbits were most likely a sister species of Homo habilis, one of the earliest known species of human found in Africa 1.75 million years ago. It was possible, Argues team said, that H. floresiensis evolved in Africa and migrated, or that a common ancestor moved from Africa then evolved into H. floresiensis.

Now Jos Alexandre Felizola Diniz-Filho of the Federal University of Gois, Brazil, and Pasquale Raia of University of Naples Federico II have revisited the controversy through their application of quantitative evolutionary genetics modelling, using simulations to evaluate the possible trajectories of body dwarfing between H. erectus (with an estimated body size value of 50 kg) and H. floresiensis (with a body size value of 27 kg).

The pair state their results, published in the journal Proceedings of the Royal Society B, do not say any final word on the matter, but their analysis does consistently support a relatively large-bodied hominid as the ancestor to H. floresiensis.

If H. floresiensis originated from an early small-bodied Homo such as such as H. habilis, they note, its small body and brain would just reflect deeper ancestry followed by little evolutionary change. However, that still leaves deep implications for the so-called Out of Africa I hypothesis, which portrays H. erectus or related forms as the first hominin to leave Africa.

On the other hand, the theory that H. floresiensis evolved from H. erectus also required understanding how Flores Man, given the small size not just of its body but also its brain, could be the evolutionary result of insular dwarfism due to the island rule, where the limited environment and resources of islands see smaller mainland animals become larger, while larger animals become smaller.

The pair report that the hobbits small body and brain size are perfectly consistent with dwarfing driven by strong directional selection under the island rule. Our results also show that the exceedingly small cranial volume of H. floresiensis might have required additional and independent selective forces acting on brain size alone, reinforcing the role of energetic constraints underlying the island rule.

Thus their findings also support previous conclusions that H. floresiensis may be most likely derived from an early Indonesian H. erectus, which is coherent with currently accepted biogeographical scenario for Homo expansion out of Africa.

The rest is here:
Genetic modelling adds a new twist to hobbit ancestry question - Cosmos