TIZIANA VAISITTI: LE RELAZIONI (MOLECOLARI) PERICOLOSE TRA CELLULE TUMORALI E MICROAMBIENTE..
NUOVI BERSAGLI TERAPEUTICI? Finalista 3a EDIZIONE PREMIO GIOVEDSCIENZA Tiziana Vaisitti, Ph.D. Immunogenetics Unit, Dept. of Medical Sciences and HuGeF ...
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Newswise It takes more mutations to trigger autism in women than in men, which may explain why men are four times more likely to have the disorder, according to a study published 26 February in the American Journal of Human Genetics1.
The study found that women with autism or developmental delay tend to have more large disruptions in their genomes than do men with the disorder. Inherited mutations are also more likely to be passed down from unaffected mothers than from fathers.
Together, the results suggest that women are resistant to mutations that contribute to autism.
This strongly argues that females are protected from autism and developmental delay and require more mutational load, or more mutational hits that are severe, in order to push them over the threshold, says lead researcher Evan Eichler, professor of genome sciences at the University of Washington in Seattle. Males on the other hand are kind of the canary in the mineshaft, so to speak, and they are much less robust.
The findings bolster those from previous studies, but don't explain what confers protection against autism in women. The fact that autism is difficult to diagnose in girls may mean that studies enroll only those girls who are severely affected and who may therefore have the most mutations, researchers note.
The authors are geneticists, and the genetics is terrific, says David Skuse, professor of behavioral and brain sciences at University College London, who was not involved in the study. But the questions about ascertainment are not addressed adequately.
Genetic burden:
The new study draws from the Simons Simplex Collection (SSC), a database of families that have one child with autism and unaffected parents and siblings. (This project is funded by the Simons Foundation, SFARI.orgs parent organization.) In a 2011 study, researchers found that girls with autism in the SSC tend to have more large duplications or deletions of regions of the genome, called copy number variants (CNVs), than do boys with the disorder, although this disparity does not reach statistical significance2.
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Researchers from the University of Sydney's Faculty of Health Sciences will build a human database to scientifically measure and classify what is 'normal' across the population.
The landmark 1000 Norms Project will catalogue human variation among healthy Australians between the ages of three to 100 to help clinicians better diagnose disease, direct treatment and evaluate patient progress.
Primary researchers for the project, Marnee McKay and Jennifer Baldwin, will measure the physical and health information of 1,000 healthy Australians, recording their body measurements and testing their balance, strength, power, coordination and movement. The study will also collect DNA saliva samples from participants to test for the ACTN3 gene, commonly referred to as the 'gene for speed', and evaluate the link between genetics and physical characteristics.
"This project will finally catalogue the normal physical variation in the Australian community and go some way towards helping answer the age-old question: am I normal?" said Ms McKay.
"While normal may be a loaded term, it's important for clinicians to be able to measure norms so they can assess health and function.
"In healthcare, knowledge of healthy human variation is essential for clinicians to make a diagnosis and to evaluate the effect of treatment."
Researcher Jennifer Baldwin said the database will be an invaluable tool for health policy makers providing a unique collection of healthy normative measures to better facilitate diagnosis and influence policy.
"The database will transform our understanding of the boundaries of health and disease and influence how we define healthy aging," Ms Baldwin said.
"Everyone accepts that no two human are the same, but to diagnose disease it is imperative we can reliably compare a patient's symptoms or physical limits against norms collected from the healthy population.
"As our population ages the study will allow clinicians and public policy makers to define healthy ageing and establish what is 'normal' during the ageing process.
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The same gene family that may have helped the human brain become larger and more complex than in any other animal also is linked to the severity of autism, according to new research from the University of Colorado Anschutz Medical Campus.
The gene family is made up of over 270 copies of a segment of DNA called DUF1220. DUF1220 codes for a protein domain -- a specific functionally important segment within a protein. The more copies of a specific DUF1220 subtype a person with autism has, the more severe the symptoms, according to a paper published in the PLoS Genetics.
This association of increasing copy number (dosage) of a gene-coding segment of DNA with increasing severity of autism is a first and suggests a focus for future research into the condition Autism Spectrum Disorder (ASD). ASD is a common behaviorally defined condition whose symptoms can vary widely -- that is why the word "spectrum" is part of the name. One federal study showed that ASD affects one in 88 children.
"Previously, we linked increasing DUF1220 dosage with the evolutionary expansion of the human brain," says James Sikela, PhD, a professor in the Department of Biochemistry and Molecular Genetics, University of Colorado School of Medicine. Sikela is the corresponding author of the study that was just published.
"One of the most well-established characteristics of autism is an abnormally rapid brain growth that occurs over the first few years of life. That feature fits very well with our previous work linking more copies of DUF1220 with increasing brain size. This suggests that more copies of DUF1220 may be helpful in certain situations but harmful in others."
The research team found that not only was DUF1220 linked to severity of autism overall, they found that as DUF1220 copy number increased, the severity of each of three main symptoms of the disorder -- social deficits, communicative impairments and repetitive behaviors -- became progressively worse.
In 2012, Sikela was the lead scientist of a multi-university team whose research established the link between DUF1220 and the rapid evolutionary expansion of the human brain. The work also implicated DUF1220 copy number in brain size both in normal populations as well as in microcephaly and macrocephaly (diseases involving brain size abnormalities).
The first author of the autism study, Jack Davis, PhD, who contributed to the project while a postdoctoral fellow in the Sikela lab, has a son with autism and thus had a very personal motivation to seek out the genetic factors that cause autism.
The research by Davis, Sikela and colleagues at the Anschutz campus in Aurora, Colo., focused on the presence of DUF1220 in 170 people with autism.
Strikingly, Davis says, DUF1220 is as common in people who do not have ASD as in people who do. So the link with severity is only in people who have the disorder.
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Gene family linked to brain evolution implicated in severity of autism symptoms
PUBLIC RELEASE DATE:
20-Mar-2014
Contact: Dan Meyers dan.meyers@ucdenver.edu University of Colorado Denver
The same gene family that may have helped the human brain become larger and more complex than in any other animal also is linked to the severity of autism, according to new research from the University of Colorado Anschutz Medical Campus.
The gene family is made up of over 270 copies of a segment of DNA called DUF1220. DUF1220 codes for a protein domain a specific functionally important segment within a protein. The more copies of a specific DUF1220 subtype a person with autism has, the more severe the symptoms, according to a paper published in the PLoS Genetics.
This association of increasing copy number (dosage) of a gene-coding segment of DNA with increasing severity of autism is a first and suggests a focus for future research into the condition Autism Spectrum Disorder (ASD). ASD is a common behaviorally defined condition whose symptoms can vary widely that is why the word "spectrum" is part of the name. One federal study showed that ASD affects one in 88 children.
"Previously, we linked increasing DUF1220 dosage with the evolutionary expansion of the human brain," says James Sikela, PhD, a professor in the Department of Biochemistry and Molecular Genetics, University of Colorado School of Medicine. Sikela is the corresponding author of the study that was just published.
"One of the most well-established characteristics of autism is an abnormally rapid brain growth that occurs over the first few years of life. That feature fits very well with our previous work linking more copies of DUF1220 with increasing brain size. This suggests that more copies of DUF1220 may be helpful in certain situations but harmful in others."
The research team found that not only was DUF1220 linked to severity of autism overall, they found that as DUF1220 copy number increased, the severity of each of three main symptoms of the disorder -- social deficits, communicative impairments and repetitive behaviors became progressively worse.
In 2012, Sikela was the lead scientist of a multi-university team whose research established the link between DUF1220 and the rapid evolutionary expansion of the human brain. The work also implicated DUF1220 copy number in brain size both in normal populations as well as in microcephaly and macrocephaly (diseases involving brain size abnormalities).
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The gene family linked to brain evolution is implicated in severity of autism symptoms
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Newswise BETHESDA, MD MARCH 20, 2014 The massive genome of the loblolly pinearound seven times bigger than the human genomeis the largest genome sequenced to date and the most complete conifer genome sequence ever published. This achievement marks the first big test of a new analysis method that can speed up genome assembly by compressing the raw sequence data 100-fold.
The draft genome is described in the March 2014 issue of the journal GENETICS and the journal Genome Biology.
Loblolly pine is the most commercially important tree species in the United States and the source of most American paper products. The tree is also being developed as a feedstock for biofuel. The genome sequence will help scientists breed improved varieties and understand the evolution and diversity of plants. But the enormous size of the pines genome had been an obstacle to sequencing efforts until recently. Its a huge genome. But the challenge isnt just collecting all the sequence data. The problem is assembling that sequence into order, said David Neale, a professor of plant sciences at the University of California, Davis, who led the loblolly pine genome project and is an author on the GENETICS and Genome Biology articles.
Modern genome sequencing methods make it relatively easy to read the individual letters in DNA, but only in short fragments. In the case of the loblolly, 16 billion separate fragments had to be fit back togethera computational puzzle called genome assembly.
We were able to assemble the human genome, but it was close to the limit of our ability; seven times bigger was just too much, said Steven Salzberg, professor of medicine and biostatistics at Johns Hopkins University, one of the directors of the loblolly genome assembly team, who was also an author on the papers.
The scale of the problem can be compared to shredding thousands of copies of the same book and then trying to read the story. You have this big pile of tiny pieces and now you have to reassemble the book, Salzberg said.
The key to the solution was using a new method to pre-process the gargantuan pile of sequence data so that it could all fit within the working memory of a single super-computer. The method, developed by researchers at the University of Maryland, compiles many overlapping fragments of sequence into much larger chunks, then throws away all the redundant information. Eliminating the redundancies leaves the computer with 100 times less sequence data to deal with.
This approach allowed the team to assemble a much more complete genome sequence than the draft assemblies of two other conifer species reported last year. The size of the pieces of consecutive sequence that we assembled are orders of magnitude larger than whats been previously published, said Neale. This will enable the loblolly to serve as a high-quality reference genome that considerably speeds along future conifer genome projects.
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March 20, 2014
Image Caption: Conifers are the predominant members of the 300 million year old Gymnosperm clade. Conifers are also distinguished by their leviathan genomes. The reference genome sequence of Loblolly pine is published in the March issue of the journal GENETICS, published by the Genetics Society of America. Its 22-Gb genome size, makes it the largest genome sequenced and assembled to date. Credit: Dr. Ronald Billings, Texas A&M Forest Service
Genetics Society of America
The massive genome of the loblolly pinearound seven times bigger than the human genomeis the largest genome sequenced to date and the most complete conifer genome sequence ever published. This achievement marks the first big test of a new analysis method that can speed up genome assembly by compressing the raw sequence data 100-fold.
The draft genome is described in the March 2014 issue of GENETICS and the journal Genome Biology.
Loblolly pine is the most commercially important tree species in the United States and the source of most American paper products. The tree is also being developed as a feedstock for biofuel. The genome sequence will help scientists breed improved varieties and understand the evolution and diversity of plants.
But the enormous size of the pines genome had been an obstacle to sequencing efforts until recently. Its a huge genome. But the challenge isnt just collecting all the sequence data. The problem is assembling that sequence into order, said David Neale, a professor of plant sciences at the University of California, Davis, who led the loblolly pine genome project and is an author on the GENETICS and Genome Biology articles.
Modern genome sequencing methods make it relatively easy to read the individual letters in DNA, but only in short fragments. In the case of the loblolly, 16 billion separate fragments had to be fit back togethera computational puzzle called genome assembly.
We were able to assemble the human genome, but it was close to the limit of our ability; seven times bigger was just too much, said Steven Salzberg, professor of medicine and biostatistics at Johns Hopkins University, one of the directors of the loblolly genome assembly team, who was also an author on the papers.
The scale of the problem can be compared to shredding thousands of copies of the same book and then trying to read the story. You have this big pile of tiny pieces and now you have to reassemble the book, Salzberg said.
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Dave King - Human 2.0 (27 February 2014)
Dave King @ Cybersalon Human 2.0 - Technologies of Enhancement 27 February 2014 David King #39;s PhD in molecular biology is from Edinburgh University. He was th...
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Doctor Tom Borody claims faecal transplants curing incurable diseases like Crohn's
An Australian doctor claims he is curing incurable diseases using an all-natural waste product we usually flush away - human stool.
Professor Tom Borody has been championing the treatment, known as faecal microbiota transplantation (FMT), for 25 years.
As modern science begins to appreciate the critical role gut bacteria plays in human health, his treatment of diseases including Crohn's and colitis, auto immune diseases and even neurological disease is provoking both criticism and excitement.
While some doctors regard faecal transplants as potentially dangerous, two of Australia's biggest teaching hospitals are embarking on a large national trial.
Professor Borody is at science's new frontier, manipulating the bacteria that live in the human gut.
"In terms of genetics there are 3.1 million genes. That's a hell of a crowd of individuals living in our colon," he said.
Bacterial cells far outnumber human cells in our bodies and bacteria experts includingCSIRO's chief research scientist, Dr David Topping, believe the world is at the edge of an extraordinary medical revolution that will come through the understanding of the so-called human microbiome.
"I think we're on the edge of something extraordinary. The attention has switched entirely to the large bowel bacterial population which we now know is absolutely critical to human health," Dr Topping said.
Professor Borody is not waiting for controlled clinical trials to treat a range of diseases.
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Doctor Tom Borody claims faecal transplants curing incurable diseases like Crohn's
The 22 year-old actress questions "if humans are genetically made to be with one person forever," in a candid interview about her insecurities while rising to fame.
Sheilene Woodley is Hollywood's hottest young actress, but she can't seem to find her prince charming.
However, this isn't something the 22 year-old worries about, in fact she is more than fine with it.
Woodley, who is Marie Claire's cover girl for its April issue, gave a candid interview with mag and covered everything from relationships to her first kiss.
"I just haven' met anyone where I was like, 'Wow I could definitely see myself spending a season of my life with you,'" Woodley told the magazine. "I don't even know if humans are genetically made to be with one person forever."
The 'Divergent' star, who featured on the front cover in a multi-coloured skin-tight outfit that was cut-out in several places,also opened up about her insecurities while growing into her teens.
"I was the latest bloomer there ever was," Woodley said. "I was still playing with Barbies at 14 and didn't have my first kiss until 15-and-a-half. He had big beautiful lips, and I was like, 'I don't know what I'm going to do with those.'"
MORE: Shailene Woodley slams 'Twilight' franchise
But now at aged 22, 'The Descendants' actress finally feels like she is becoming a women and discovering who she really is.
"For the first time, I feel like I'm entering my womanhood," she added. "I've decided to take a few months off, just to see who I am as that woman in the world, because I've never been able to experience it outside of this industry."
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'Divergent' Star Shailene Woodley Believes Human Genetics Aren't Made For Monogamy
by Dhaneshi Yatawara
A cancer genetics clinic will be conducted by the Human Genetics Unit of the University of Colombo at the Maharagama National Cancer Institute. The clinic will be held every Friday afternoon.
The purpose of the clinic is to identify individuals having hereditary cancer syndromes and provide thorough evaluation, genetic counselling and testing which will be beneficial for the patients and their families, according to Professor Vajira Dissanayake of the Human Genetics Unit, Colombo University.
"We will work with physicians and surgeons who treat the patients. The clinic is ready to provide service not only to cancer patients but also to their family members as well," Prof. Dissanayake said.
The cancer genetics clinic will conduct risk assessments for each patient for all forms of cancers and screening for early detection management, Genetic counselling and genetic testing.
"Members of families with records of cancer occurring in multiple generations or people with two or more close relatives having the same cancer can come to the clinic and get their risk assessments," he said.
And for those who underwent treatment for cancer that occurred in one section of paired organs of the body have the facility to check whether the cancer has spread to the other half of the organ. Several main genetic tests will be available at the clinic.
Tests to check effectiveness of the drugs on individual cancer patients medically known as pharmacogenomic tests, are also available at the clinic.
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Newswise ANN ARBOR, Mich. Scientists have discovered a previously unrecognized gene variation that makes humans have healthier blood lipid levels and reduced risk of heart attacks -- a finding that opens the door to using this knowledge in testing or treatment of high cholesterol and other lipid disorders.
But even more significant is how they found the gene, which had been hiding in plain sight in previous hunts for genes that influence cardiovascular risk.
This region of DNA where it was found had been implicated as being important in controlling blood lipid levels in a report from several members of the same research team in 2008. But although this DNA region had many genes, none of them had any obvious link to blood lipid levels. The promise of an entirely new lipid-related gene took another six years and a new approach to find.
In a new paper in Nature Genetics, a team from the University of Michigan and the Norwegian University of Science and Technology report that they zeroed in on the gene in an entirely new way.
The team scanned the genetic information available from a biobank of thousands of Norwegians, focusing on variations in genes that change the way proteins function. Most of what they found turned out to be already known to affect cholesterol levels and other blood lipids.
But one gene, dubbed TM6SF2, wasnt on the radar at all. In a minority of the Norwegians who carried a particular change in the gene, blood lipid levels were much healthier and they had a lower rate of heart attack. And when the researchers boosted or suppressed the gene in mice, they saw the same effect on the animals blood lipid levels.
Cardiovascular disease presents such a huge impact on peoples lives that we should leave no stone unturned in the search for the genes that cause heart attack, says Cristen Willer, Ph.D., the senior author of the paper and an assistant professor of Internal Medicine, Human Genetics and Computational Medicine & Bioinformatics at the U-M Medical School.
While genetic studies that focused on common variations may explain as much as 30 percent of the genetic component of lipid disorders, we still dont know where the rest of the genetic risk comes from, Willer adds. This approach of focusing on protein-changing variation may help us zero in on new genes faster.
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Novel Gene-Finding Approach Yields a New Gene Linked to Key Heart Attack Risk Factor
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Newswise Research from the University of Adelaide has confirmed that a gene linked to intellectual disability is critical to the earliest stages of the development of human brains.
Known as USP9X, the gene has been investigated by Adelaide researchers for more than a decade, but in recent years scientists have begun to understand its particular importance to brain development.
In a new paper published online in the American Journal of Human Genetics, an international research team led by the University of Adelaide's Robinson Research Institute explains how mutations in USP9X are associated with intellectual disability. These mutations, which can be inherited from one generation to the next, have been shown to cause disruptions to normal brain cell functioning.
Speaking during Brain Awareness Week, senior co-author Dr Lachlan Jolly from the University of Adelaide's Neurogenetics Research Program says the USP9X gene has shed new light on the mysteries of brain development and disability.
Dr Jolly says the base framework for the brain's complex network of cells begins to form at the embryo stage.
"Not surprisingly, disorders that cause changes to this network of cells, such as intellectual disabilities, epilepsy and autism, are hard to understand, and treat," Dr Jolly says.
"By looking at patients with severe learning and memory problems, we discovered a gene - called USP9X - that is involved in creating this base network of nerve cells. USP9X controls both the initial generation of the nerve cells from stem cells, and also their ability to connect with one another and form the proper networks," he says.
"This work is critical to understanding how the brain develops, and how it is altered in individuals with brain disorders.
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Latest Diet & Weight Management News
WEDNESDAY, March 12, 2014 (HealthDay News) -- Scientists who identified a gene that appears to be strongly linked with obesity say their discovery could help efforts to find drug treatments for obesity and diabetes.
"Our data strongly suggest that [the gene] IRX3 controls body mass and regulates body composition," study senior author Marcelo Nobrega, an associate professor of human genetics at the University of Chicago, said in a university news release.
Although the research showed an association between the gene and obesity, it did not prove a cause-and-effect link.
The IRX3 gene was first pinpointed through an analysis of about 150 brain samples from people of European ancestry, according to the study, which was published online March 12 in the journal Nature.
To verify the role of IRX3 in obesity, the researchers created mice without the gene and found that they weighed about 30 percent less than normal mice. Much of this weight difference was due to reduced amounts of fat in the mice without the IRX3 gene.
"These mice are thin. They lose weight primarily through the loss of fat, but they are not runts," study co-author Chin-Chung Hui, a professor of molecular genetics at the University of Toronto, said in the news release.
"They are also completely resistant to high-fat diet-induced obesity," Hui said. "They have much better ability to handle glucose, and seem protected against diabetes."
The researchers also found that mice with altered function of the IRX3 gene in the hypothalamus -- the part of the brain that controls eating and energy output -- were as lean as mice that lacked the gene.
This suggests that the gene's activity in the hypothalamus controls body mass and composition in mice, and that genetic predisposition to obesity is wired in the brain, according to the study authors.
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Genetics provide stunning new answers to the question of human evolution, according to Auckland cancer researcher, Dr Graeme Finlay.
Genetic markers that are used to follow the development of populations of cells have exactly the same character as those that track the development of species, says Dr Finlay who has just published a book on genetics and human evolution.
His book, Human Evolution: Genes, Genealogies and Phylogenies, was published by Cambridge University Press late last year.
Dr Finlay is senior lecturer in Scientific Pathology at the Department of Molecular Medicine and Pathology, and an Honorary Senior Research Fellow at the Auckland Cancer Society Research Centre, in the University of Auckland.
"Controversy over human evolution remains widespread, but the human genome project and genetic sequencing of many other species has provided myriad precise and unambiguous genetic markers that establish our evolutionary relationships with other mammals," says Dr Finlay.
This book identifies and explains these identifiable, rare and complex markers including endogenous retroviruses, genome-modifying transposable elements, gene-disabling mutations, segmental duplications and gene-enabling mutations.
These new genetic tools also provide fascinating insights into when and how many features of human biology arose: from aspects of placental structure, vitamin C dependence and trichromatic vision, to tendencies to gout, cardiovascular disease and cancer.
The book brings together a decade's worth of research and ties it together to provide an overwhelming argument for the mammalian ancestry of the human species.
Dr Finlay says he hopes the book will be of interest to professional scientists, undergraduate and college students in both the biological and biomedical sciences, and to anyone including theologians concerned with the scientific evidences for evolution.
He says when he entered University he was fascinated by cells and DNA, but had no interest in evolution.
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Genetics p'rovide unprecedented primate link in human evolution'
A team of international researchers has discovered two new genes connected to bipolar disorder.
A study that will be published in the Nature Communications journal analyzed genetic material from about 24,000 people, revealing five risk regions in human DNA associated with the disease.
Two of those genes ADCY2 on chromosome five and MIR2113-POU3F2 on chromosome six are new discoveries.
Researchers are especially interested in the ADCY2 gene, which codes an enzyme involved in conducting signals to nerve cells. Scientists have previously observed that signal transfers in certain regions of the brain are impaired in people with bipolar disorder.
For the study, researchers obtained new genetic data from 2,266 people with bipolar disorder, and 5,028 people from a control group. When that information was merged with existing data sets from the Institute of Human Genetics, DNA from a total of 9,747 patients was compared to that of 14,278 healthy people.
The investigation of the genetic foundations of bipolar disorder on this scale is unique worldwide to date," one of the researchers, Marcella Rietschel of the Central Institute of Mental Health of Mannheim, Germany, said in a news release.
Researchers said the study is unparalleled because it involved an unprecedented number of patients from around the world.
About one per cent of the global population suffers from bipolar disorder, characterized by intense mood swings. Patients go from experiencing extreme euphoria and hyperactivity or manic phases to extreme depression. Scientists have been trying to understand what role genetics, in addition to a patients environment and other factors, play in the development of the disease.
Markus M. Nthen, director of the Institute of Human Genetics at the University of Bonn Hospital, said that many different genes are evidently involved and these genes work together with environmental factors in a complex way."
Researchers say identifying genes related to bipolar disorder is like looking for a needle in a haystack. Differences between the DNA of people with the disease and healthy individuals can only be statistically confirmed when a large number of samples is involved, as was the case in this study.
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'Unparalleled' study discovers new genes connected to bipolar disorder
PUBLIC RELEASE DATE:
11-Mar-2014
Contact: Cathy Yarbrough sciencematter@yahoo.com 858-243-1814 Genetics Society of America
Over 1,500 scientists from Asia, Europe and the U.S. are expected to attend the Genetics Society of America (GSA)'s 55th annual Drosophila Research Conference, March 26 to 30, 2014, at the San Diego Town and Country Resort and Conference Center, San Diego, CA. Link to conference webpage: http://www.genetics-gsa.org/drosophila/2014/
At the conference's over 940 platform and poster presentations, scientists will report on the latest research on such topics as cell biology and the cytoskeleton, RNA biology, screening of experimental therapeutics in fly models as well as fly models of such human diseases as cancer, epilepsy, heart disease and diabetes.
The fruit fly, Drosophila melanogaster, is one of the most commonly studied model organisms. Research presented at the Drosophila conference, like those at other GSA conferences, helps advance our fundamental understanding of living systems and provides crucial insight into human biology, health and disease.
In addition to the platform and poster sessions, the conference will feature 15 presentations by invited speakers, including the internationally renowned researcher and educator Bruce Alberts, Ph.D. His topic will be, "Science, Biology and the World's Future." Dr. Alberts, former editor-in-chief of Science and past president of the National Academy of Sciences, is now at University of California at San Francisco, which honored him with the Chancellor's Leadership Chair in Biochemistry and Biophysics for Science and Education.
List of invited speakers:http://www.genetics-gsa.org/drosophila/2014/
The conference will also include a preview of the new feature film, "The Fly Room." Written and directed by geneticist Alexis Gambis, Ph.D., the semi-fictional film is set in the now famous Columbia University lab, known as the "Fly Room," in which the studies that built the scientific foundations for modern genetics were conducted. The film provides a portrait of the relationship between Calvin Bridges, Ph.D., one of the researchers who worked in the "Fly Room," and his daughter Betsey, based on interviews with the real Betsey Bridges. Dr. Gambis has described the film as a "dramatic narrative about a girl's quest to understand her father through his research." Link http://www.theflyroom.com/
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nvestigations for the study of identical twin astronauts Scott and Mark Kelly and, in doing so, launched human space life science research into a new era. Although NASA's Human Research Program has been researching the effects of spaceflight on the human body for decades, these 10 investigations will provide NASA with broader insight into the subtle effects and changes that may occur in spaceflight as compared to Earth-based environments.
NASA and the National Space Biomedical Research Institute (NSBRI) will jointly manage this ambitious new undertaking.
"We realized this is a unique opportunity to perform a class of novel studies because we had one twin flying aboard the International Space Station and one twin on the ground," says Craig Kundrot, Ph.D. and deputy chief scientist of NASA's Human Research Program.
"We can study two individuals who have the same genetics, but are in different environments for one year.
The investigations, which were picked from a pool of 40 proposals, introduce to space physiology the field of -omics, the integrated study of DNA, RNA, and the entire complement of biomolecules in the human body. Studying human physiology at this fundamental level will provide NASA and the broader spaceflight community with unique information.
This is because these tiny components of the human body tell researchers volumes about an individual's composition and their reaction to stressors like those associated with spaceflight. Investigating the subtle changes - or lack thereof - between the Kelly brothers at this level, after Scott's year in space and Mark's year on Earth, could shed light between the nature vs. nurture aspect of the effects of spaceflight on the human body.
The studies will focus on four areas: human physiology, behavioral health, microbiology/microbiome, and molecular or -omics studies. Human physiological investigations will look at how the spaceflight environment may induce changes in different organs like the heart, muscles or brain within the body. Behavioral health investigations will help characterize the effects spaceflight may have on perception and reasoning, decision making and alertness.
The microbiology/microbiome investigations will explore the brothers' dietary differences and stressors to find out how both affect the organisms in the twins' guts. Lastly, but potentially opening a whole new realm of information about humans exposed to the spaceflight environment are the molecular or -omics investigations.
These studies will look at the way genes in the cells are turned on and off as a result of spaceflight; and how stressors like radiation, confinement and microgravity prompt changes in the proteins and metabolites gathered in biological samples like blood, saliva, urine and stool.
Some of the investigations are brand new, some are already being considered as part of the research plans for the one-year mission set for 2015, and some are already being performed with crews living aboard the space station for six-month durations. These will allow the agency to build upon existing knowledge about long duration spaceflight.
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NASA Launches New Research, Seeks the Subtle in Parallel Ways
Craig Venters new company wants to improve human longevity by creating the worlds largest, most comprehensive database of genetic and physiological information.
Last week, genomics entrepreneur Craig Venter announced his latest venture: a company that will create what it calls the most comprehensive and complete data set on human health to tackle diseases of aging.
Human Longevity, based in San Diego, says it will sequence some 40,000 human genomes per year to start, using Illuminas new high-throughput sequencing machines (see Does Illumina Have the First $1,000 Genome?). Eventually, it plans to work its way up to 100,000 genomes per year. The company will also sequence the genomes of the bodys multitudes of microbial inhabitants, called the microbiome, and analyze the thousands of metabolites that can be found in blood and other patient samples.
By combining these disparate types of data, the new company hopes to make inroads into the enigmatic processes of aging and the many diseases, including cancer and heart disease, that are strongly associated with the process. Aging is exerting a force on humans that is exposing us to diseases, and the diseases are idiosyncratic, partly based on genetics, partly on environment, says Leonard Guarente, who researches aging at MIT and is not involved in the company. The hope for many of us who study aging is that by having interventions that hit key pathways in aging, we can affect disease.
But despite decades of research on aging and age-related diseases, there are no treatments to slow aging, and diseases like cancer, heart disease, and Alzheimers continue to plague patients. A more comprehensive approach to studying human aging could help, says Guarente. The key is to go beyond genome sequencing by looking at gene activity and changes in the array of proteins and other molecules found in patient samples.
To that end, Human Longevity will collaborate with Metabolon, a company based in Durham, North Carolina, to profile the metabolites circulating in the bloodstreams of study participants. Metabolon was an early pioneer in the field of metabolomics, which catalogues the amino acids, fats, and other small molecules in a blood or other sample to develop more accurate diagnostic tests for diseases (see 10 Emerging Technologies 2005: Metabolomics).
Metabolon uses mass spectrometry to identify small molecules in a sample. In a human blood sample, there are around 1,200 different types; Metabolons process can also determine the amount of each one present. While genome sequencing can provide information about inherited risk of disease and some hints of the likelihood that a person will have a long life, metabolic data provides information on how environment, diet, and other features of an individuals life affect health.
Metabolic data can also help researchers interpret the results of genome-based studies, which can often pinpoint a particular gene as important in a disease or a normal cellular process without clarifying what that gene actually does. If a particular metabolite is found to correlate with a particular genetic signal in a study, then researchers have a clue as to the function of the DNA signal.
And changes in blood metabolites are not just caused by changes in human cell behavior: the microbes that live in our bodies produce metabolites that can be detected in blood, says John Ryals, CEO and founder of Metabolon. When you get certain diseases, we believe your gut microbiome is changing its composition, and that leads to changes in what molecules are being made, he says.
Ryals says his company, working with collaborators, has already shown that blood biochemistry changes with aging: You can tell how old someone is just by looking at their metabolites.
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When Jane Peterson wants to understand something, she dives right into the details. Her career has taken her beyond the surface of our everyday world, straight through to the cellular and molecular levels of the human body.
The deeper you delve, the more complicated it gets, she said. Although she was talking about genetics, the same could be said for her career and list of accomplishments.
Peterson holds a doctorate from the University of Colorados department of molecular, cellular and developmental biology, and thats just the start of it. She moved on to the department of human genetics at Yale University School of Medicine, then to the laboratory of biochemistry at the National Institutes of Health. She also got in at the beginning at an ambitious task the Human Genome Project.
Surrounded by scientists
Peterson grew up in Hamilton, a very small town in western Montana.
My entire family is somehow in science, she said, referring to her father, a physician, and her elder brother, who passed on an interest in mammalogy.
I trapped mice and did that kind of thing through high school, so I got into science pretty early, Peterson said.
Her post-high school education started on a unique footing, as she spent her freshman year attending Beirut College in Lebanon while her parents were working as missionaries in Iran.
It just seemed like a terrible opportunity to miss, she said. Beirut is a phenomenal place.
When it came time to choose a graduate school, she saw what she wanted at CU.
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Jane Peterson is the next president and CEO of Keystone Symposia