Duck Hunt (The Hidden #11)
What is The Hidden In the early 1950s human genetics experimentation was taking its first, tentative steps. Amongst many other black projects, a team of Brit...

By: MrMad TeaHatter

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Duck Hunt (The Hidden #11) - Video

Researchers in human genetics have known that long nucleotide repeats in DNA lead to instability of the genome and ultimately to human hereditary diseases such Freidreich's ataxia and Huntington's disease.

Scientists have believed that the lengthening of those repeats occur during DNA replication when cells divide or when the cellular DNA repair machinery gets activated. Recently, however, it became apparent that yet another process called transcription, which is copying the information from DNA into RNA, could also been involved.

A Tufts University study published online on November 20 in the journal Cell Reports by a research team lead by Sergei Mirkin, the White Family Professor of Biology at Tufts' School of Arts and Sciences, along with former graduate student Kartick Shah and graduate students Ryan McGuity and Vera Egorova, explores the relationship between transcription and the expansions of DNA repeats. It concludes that the active transcriptional state of a DNA segment containing a DNA repeat predisposes it for expansions. The print version of the study will be published on December 11.

"There are a great many simple repetitive motifs in our DNA, such as GAAGAAGAA or CGGCGGCGG," says Mirkin. "They are stable and cause no harm if they stay short. Occasionally, however, they start lengthening compulsively, and these uncontrollable expansions lead to dramatic changes in genome stability, gene expression, which can lead to human disease."

In their study, the researchers used baker's yeast to monitor the progress and the fundamental genetic machineries for transcription, replication and repair in genome functioning.

"The beauty of the yeast system is that it provides one with a practically unlimited arsenal of tools to study the mechanisms of genome functioning," says Mirkin. "We created genetic systems to track down expansions of the repeats that were positioned in either transcribed or non-transcribed parts of reporter genes."

After measuring the rate of repeat expansions in all these cases, the authors found that a repeat can expand under the condition when there is practically no transcription, but the likelihood of the expansion process is drastically (10-fold) higher when the reporter is transcriptionally active.

Surprisingly, however, transcription machinery does not need to physically pass through the repeat to stimulate its expansion. Thus, it is the active transcription state of the repeat-containing DNA segment, rather than RNA synthesis through the repeat that promotes expansions.

In the transcriptionally active state, DNA is packaged in chromatin more loosely than when it is transcriptionally inactive. More specifically, the density of nucleosomes along the transcribed DNA segment is significantly lower than that in the non-transcribed segment. This packaging of repetitive DNA within the transcribed areas gives much more room for DNA strand gymnastics, ultimately leading to repeat expansions.

Whatever the exact model, says Mirkin, the fact that expandable DNA repeats were always found in transcribed areas of our genome may not be that surprising after all.

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Link between DNA transcription, disease-causing expansions

PUBLIC RELEASE DATE:

25-Nov-2014

Contact: Alex Reid alexander.reid@tufts.edu 617-627-4173 Tufts University @TuftsUniversity

Medford/Somerville, Mass--Researchers in human genetics have known that long nucleotide repeats in DNA lead to instability of the genome and ultimately to human hereditary diseases such Freidreich's ataxia and Huntington's disease.

Scientists have believed that the lengthening of those repeats occur during DNA replication when cells divide or when the cellular DNA repair machinery gets activated. Recently, however, it became apparent that yet another process called transcription, which is copying the information from DNA into RNA, could also been involved.

A Tufts University study published online on November 20 in the journal "Cell Reports" by a research team lead by Sergei Mirkin, the White Family Professor of Biology at Tufts' School of Arts and Sciences, along with former graduate student Kartick Shah and graduate students Ryan McGuity and Vera Egorova, explores the relationship between transcription and the expansions of DNA repeats. It concludes that the active transcriptional state of a DNA segment containing a DNA repeat predisposes it for expansions. The print version of the study will be published on December 11.

"There are a great many simple repetitive motifs in our DNA, such as GAAGAAGAA or CGGCGGCGG," says Mirkin. "They are stable and cause no harm if they stay short. Occasionally, however, they start lengthening compulsively, and these uncontrollable expansions lead to dramatic changes in genome stability, gene expression, which can lead to human disease."

In their study, the researchers used baker's yeast to monitor the progress and the fundamental genetic machineries for transcription, replication and repair in genome functioning.

"The beauty of the yeast system is that it provides one with a practically unlimited arsenal of tools to study the mechanisms of genome functioning," says Mirkin. "We created genetic systems to track down expansions of the repeats that were positioned in either transcribed or non-transcribed parts of reporter genes."

After measuring the rate of repeat expansions in all these cases, the authors found that a repeat can expand under the condition when there is practically no transcription, but the likelihood of the expansion process is drastically (10-fold) higher when the reporter is transcriptionally active.

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A link between DNA transcription and disease-causing expansions

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Newswise Medford/Somerville, MassResearchers in human genetics have known that long nucleotide repeats in DNA lead to instability of the genome and ultimately to human hereditary diseases such Freidreich's ataxia and Huntington's disease.

Scientists have believed that the lengthening of those repeats occur during DNA replication when cells divide or when the cellular DNA repair machinery gets activated. Recently, however, it became apparent that yet another process called transcription, which is copying the information from DNA into RNA, could also been involved.

A Tufts University study published online on November 20 in the journal "Cell Reports" by a research team lead by Sergei Mirkin, the White Family Professor of Biology at Tufts' School of Arts and Sciences, along with former graduate student Kartick Shah and graduate students Ryan McGuity and Vera Egorova, explores the relationship between transcription and the expansions of DNA repeats. It concludes that the active transcriptional state of a DNA segment containing a DNA repeat predisposes it for expansions. The print version of the study will be published on December 11.

"There are a great many simple repetitive motifs in our DNA, such as GAAGAAGAA or CGGCGGCGG," says Mirkin. "They are stable and cause no harm if they stay short. Occasionally, however, they start lengthening compulsively, and these uncontrollable expansions lead to dramatic changes in genome stability, gene expression, which can lead to human disease."

In their study, the researchers used baker's yeast to monitor the progress and the fundamental genetic machineries for transcription, replication and repair in genome functioning.

"The beauty of the yeast system is that it provides one with a practically unlimited arsenal of tools to study the mechanisms of genome functioning," says Mirkin. "We created genetic systems to track down expansions of the repeats that were positioned in either transcribed or non-transcribed parts of reporter genes."

After measuring the rate of repeat expansions in all these cases, the authors found that a repeat can expand under the condition when there is practically no transcription, but the likelihood of the expansion process is drastically (10-fold) higher when the reporter is transcriptionally active.

Surprisingly, however, transcription machinery does not need to physically pass through the repeat to stimulate its expansion. Thus, it is the active transcription state of the repeat-containing DNA segment, rather than RNA synthesis through the repeat that promotes expansions.

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A Link between DNA Transcription and Disease Causing Expansions Which Lead to Hereditary Disorders

Team Killer Just Killed The Team (The Hidden #9)
What is The Hidden In the early 1950s human genetics experimentation was taking its first, tentative steps. Amongst many other black projects, a team of Brit...

By: MrMad TeaHatter

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Team Killer Just Killed The Team (The Hidden #9) - Video

Mouse models have been used largely in studying genetic mechanisms involved in responses to diseases. New research that compared the genome of mouse and man says there are differences in the detail.REUTERS

What holds t for true the mouse does not always hold true for humans, though mouse models have served well in understanding genetic mechanisms in dealing with diseases.

In a systematical evaluation and assessment, various research papers are suggesting that while gene regulation machinery and networks are similar in mouse and man, the details differ quite a bit.

By understanding the differences, scientists will be better placed in knowing when the mouse model can be used in studies.

There are a substantial number of mouse genes that are regulated in ways different from similar genes in humans. The differences are not random, say researchers at the University of California, San Diego School of Medicine and Ludwig Cancer Research.

Only half of human genomic DNA aligns to mouse genomic DNA. In comparison chimpanzees' match 96%.

Mice and humans share approximately 70% of the same protein-coding gene sequences which are important as they send out instructions to build organisms, but this comprises just 1.5% of these genomes.

The results from the mouse ENCODE project, which is part of the ENCODE, or ENCyclopedia Of DNA Elements, showed some DNA sequence differences linked to diseases in humans have counterparts in the mouse genome.

The differences and similarities

They also showed that certain genes and elements are similar in both species, providing a basis to use the mouse to study relevant human disease.

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Genetics: Man and Mouse are Close but Different too

'With the lack of support from the government, it is our responsibility as private citizens to contribute and support this ignored sector of our society'

MANILA, Philippines In the Philippines, persons born with and afflicted with rare disorders are a vulnerable and largely unsupported population.

A disease is considered rare if it affects 1 in 20,000 individuals or less, as defined by the Institute of Human Genetics of the National Institute of Health. Pompe disease, Maple Syrup Urine disease, Menkes syndrome, Lowe Syndrome are only a few of the registered 6,000-8,000 rare diseases globally. Because of the relatively low number afflicted by these disorders, support from the Philippine government is absent and access to basic health benefits such as insurance coverage is unavailable to patients with rare diseases.

Rare diseases in the Philippines

Statistics show that 1 in 20,000 Filipinos are afflicted with one of the 30 Rare diseases registered in the country, 75% of which affect children.

Without help from the government and private sector, treatment and medication is elusive for these patients due to their prohibitive cost and accessibility, most of which can only be sourced from the United States.

Formed with the help of the Institute of Human Genetics (IHG), the Philippine Society for Orphan Disorders, Inc. (PSOD), is a non-profit organization dedicated to be the central network for the advocacy and effective administration of sustainable support for the treatment and medication for rare disease sufferers.

Pairing up with Rare

In support of PSOD's advocacy and efforts, Il Ponticello Cucina Italiana will be holding RARE PAIRS, a Charity Dinner and Wine Pairing fundraising event on November 22, 2014 to help fund and contribute to the growing needs of the increasing number Filipino patients afflicted with rare disorders.

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Rare Pairs: A charity dinner for orphan disorders

PUBLIC RELEASE DATE:

19-Nov-2014

Contact: Krista Conger kristac@stanford.edu 650-725-5371 Stanford University Medical Center @sumedicine

For years, scientists have considered the laboratory mouse one of the best models for researching disease in humans because of the genetic similarity between the two mammals. Now, researchers at the Stanford University School of Medicine have found that the basic principles of how genes are controlled are similar in the two species, validating the mouse's utility in clinical research.

However, there are important differences in the details of gene regulation that distinguish us as a species.

"At the end of the day, a lot of the genes are identical between a mouse and a human, but we would argue how they're regulated is quite different," said Michael Snyder, PhD, professor and chair of genetics at Stanford. "We are interested in what makes a mouse a mouse and a human a human."

The research effort, Mouse ENCODE, is meant to complement a project called the Encyclopedia of DNA Elements, or ENCODE, that began in 2003. ENCODE studied specific components in the human genome that guide genes to code for proteins that carry out a cell's function, a process known as gene expression. Surrounding the protein-coding genes are noncoding regulatory elements, molecules that regulate gene expression by attaching proteins, called transcription factors, to specific regions of DNA.

Why mice matter

Mouse ENCODE analyzed more than 100 mouse cell types and tissues to annotate the regulatory elements of the mouse genome and compare them to the regulatory elements in the human genome. Both ENCODE and Mouse ENCODE are funded and coordinated by the National Human Genome Research Institute. Because mice are used as model organisms for many human clinical studies and drug discovery, understanding the similarities and differences can help researchers understand how the results found in mouse studies can translate to humans.

"The mindset is when you compare things, it helps understand genome annotation," said Mark Gerstein, PhD, the Albert L. Williams Professor of Biomedical Informatics at Yale University. "It's making the mouse a more meaningful model organism." Gerstein collaborated on previous ENCODE research but is not part of the Mouse ENCODE consortium, which is composed of researchers from more than 30 institutions.

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Stanford researchers compare mammals' genomes to aid human clinical research

Released: 17-Nov-2014 1:00 PM EST Embargo expired: 19-Nov-2014 1:00 PM EST Source Newsroom: Johns Hopkins Medicine Contact Information

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Newswise When the mouse and human genomes were catalogued more than 10 years ago, an international team of researchers set out to understand and compare the mission control centers found throughout the large stretches of DNA flanking the genes. Their long-awaited report, published Nov. 19 in the journal Nature suggests why studies in mice cannot always be reproduced in humans. Importantly, the scientists say, their work also sheds light on the function of DNAs regulatory regions, which are often to blame for common chronic human diseases.

Most of the differences between mice and humans come from regulation of gene activity, not from genes themselves, says Michael Beer, Ph.D., assistant professor of biomedical engineering at the Johns Hopkins University School of Medicine, and a member of the international team of investigators. Because mice are an important model for human biology, we have to understand these differences to better interpret our results.

Particularly in the early days of genetics, Beer says, researchers tended to ignore regulatory DNA, searching instead for single or multiple gene mutations linked to disease. But genes are only as good as their mission control centers. Without them, they cannot produce protein at the right time, in the right place nor in the right amount. Thats why it is becoming clearer, he adds, that most human disorders, from diabetes to attention deficit hyperactivity disorder to Parkinsons disease, actually stem from off-kilter gene regulation.

Almost all human genes have a clearly related gene in mice, which makes mice a good model for studying questions in biology that cannot be studied in human beings. But protein coding genes make up only 1.5 percent of either genome, analysis shows, accounting for the fact, for instance, that the history of drug development is littered with compounds that cured rodents but failed in human trials.

The reasons for these failures and why people dont have tails or whiskers likely lies outside of our genes, Beer explains, in the regulatory regions, which compose a larger fraction of the genome, but are less conserved or similar in mice and men.

To delve into the details of those regions, the team analyzed 124 types of mouse cells and tissues, including brain, heart, blood, kidney, liver and skin. Together, the consortium generated more than 1,000 datasets representing regions of DNA where genes were active, where the DNA was open and accessible, where specific proteins were binding to DNA, and where DNA replication was happening.

To exploit the information in similar datasets previously created using human tissues, Beer developed a mathematical tool to compare all of the datasets and identify the most similar and most rapidly evolving regulatory regions in mice and humans.

The analysis showed that while mouse genes involved in core intracellular processes, like protein production, have activity patterns very similar to those in humans, the activity profiles of mouse genes involved in processes at the surfaces of cells are quite different a finding with broad implications for researchers using mice to study cell-to-cell communication, immunity, cardiovascular disease and a host of other disorders, Beer notes.

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Scientists Map Mouse Genome's 'Mission Control Centers'

How can GENETICS revolutionize medicine?
In 2003, researchers first sequenced the human genome. Since then our understanding of human genetics has exploded. How will this biological revolution actually improve medical care for you...

By: CuriousMinds

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How can GENETICS revolutionize medicine? - Video

SenateSHJ recognises excellence with prize

A Victoria University student Sophie Speakman, who is studying both human genetics and communications has been awarded the SenateSHJ Prize and internship for 2014.

The SenateSHJ Prize, now in its sixth year, awards the best projects undertaken by communications and public relations students at Unitec, Victoria University, AUT and Massey University.

The top students from each institution have the opportunity to win $500 and a chance to compete for a paid internship at SenateSHJ.

Sophie won the SenateSHJ Prize for Victoria University students with her analysis of Contikis This Way to Amazing campaign. Sophie was additionally selected out of the three national winners for a one week paid internship with SenateSHJs Auckland office.

Massey Universitys Morgan Fitzgerald and Unitecs Zoe Gardner also won the SenateSHJ Prize on behalf of their universities. Their assignments on depression awareness and reputation management respectively were judged the best of four top papers submitted by each university.

Neil Green, chief executive of SenateSHJ, said the prize and internship recognise excellence in communications, and encourage deep analysis, evaluation and thought within the discipline.

It is an excellent way for us to connect with some extremely bright and promising students, who demonstrate smart thinking.

We believe they have the potential to make a mark in the profession in years to come.

We hope that the recognition that comes with winning the SenateSHJ Prize will give them a head-start in their careers once they graduate.

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SenateSHJ recognises excellence with prize

Jason Koski/University Photography

Rosemary Avery, center, moderates a forum on what makes us human with Roald Hoffmann, right, and Praveen Sethupathy in Call Auditorium Nov. 12.

The question of what makes us human has been a source of discussion and conflict for centuries. Although the question remains unanswered, a Christian geneticist and an atheist chemist found that their views on the topic were not so different in a Nov. 12 campus conversation "Genes, Atoms or Something Else?" attended by more than 500 undergraduates.

Praveen Sethupathy, a geneticist at the University of North Carolina, Chapel Hill, is a Christian. Nobel laureate Roald Hoffmann, Cornells Frank H.T. Rhodes Professor of Humane Letters Emeritus, is an atheist.

The discussion began with what scientifically makes a human a human: DNA. Although he is a geneticist, Sethupathy was quick to point out the limitations of examining DNA in the search for human identity.

Our identities are influenced, but not fully determined by our genetics, Sethupathy said, explaining that the chemical packaging that surrounds DNA can be altered by any number of lifestyle choices like smoking and diet. Furthermore, these changes to the DNA packaging are in some cases hereditary.

Hoffmann agreed with Sethupathys assessment that genetic makeup is only a small part of human identity. Even with E. coli we share a substantial amount [of genetic material]. Does it free us of choices for good and for evil? No more than original sin prevents you from making a choice about being good or evil, Hoffmann said.

Both agreed that our genetics are not responsible for providing us with moral standards, although they agreed that morality is an important aspect of humanity. The presenters did not, however, agree on the source of objective moral standards.

I believe that there are objective moral standards and that they do come from [God], Sethupathy said, noting that he thought religious moral standards are sometimes imposed inappropriately.

Hoffmann said he believes that morality springs from human biology. I think ethics arises out of natural, personal and societal interactions, he said, noting that moral standards are very similar across cultures, despite different religious backgrounds.

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Christian, atheist scientists tackle human nature

PUBLIC RELEASE DATE:

13-Nov-2014

Contact: Nalini Padmanabhan press@ashg.org 301-634-7346 American Society of Human Genetics @GeneticsSociety

BETHESDA, MD - The National Association of Biology Teachers (NABT) has named Robert R. Gotwals, Jr., M.S., chemistry and research instructor at the North Carolina School of Science and Mathematics (NCSSM) in Durham, the 2014 recipient of its Genetics Education Award.

This annual award recognizes innovative, student-centered classroom instruction to promote the understanding of genetics and its impact on inheritance, health, and biological research. Sponsored by the American Society of Human Genetics (ASHG) and the Genetics Society of America (GSA), the award will be presented to Mr. Gotwals on Saturday, November 15, during NABT's 2014 Professional Development Conference in Cleveland, Ohio. In addition to a recognition plaque and a year of complimentary membership to NABT, GSA, and ASHG, Mr. Gotwals will receive a $1000 cash prize.

Mr. Gotwals, who holds an undergraduate degree in chemistry and master's degrees in science education and education for the hearing-impaired, has developed resources related to research and computational chemistry for both students and teachers. In particular, he worked with the Jackson Laboratory in Bar Harbor, Maine, to create and implement a program for high school students to conduct genetics research. Using videoconferencing, students in the program collaborate with Jackson Laboratory scientists to analyze complex genetic and genomic data obtained from disease studies in mice.

"NABT is proud to recognize Mr. Gotwals as its first Genetics Education Award recipient," said Priya DasSarma, M.S., of the University of Maryland, chair of the NABT Awards Committee. "He has impressive genetics education credentials, including producing a video, 'DNA: The Secret of Life,' with Dr. James D. Watson. He is an ideal messenger for high school students, motivating them to analyze data coming down the bioinformatics, genomic, and genetic pipelines along with researchers in a fruitful collaboration," she said.

In addition, Mr. Gotwals developed the North Carolina High School Computational Chemistry server, which he continues to support; and curricula in general chemistry, research methods, and computational sciences, which he has taught at NCSSM since 2006.

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Award Presentation: The 2014 NABT Genetics Education Award will be presented at the NABT Honors Luncheon on Saturday, November 15, 2014, from 1:00-3:00 p.m. in Junior Ballroom A at the Cleveland Convention Center. Tickets are required.

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NABT recognizes chemistry teacher with Genetics Education Award

Dr. Robert A. Waterland: Early nutritional influences on human developmental epigenetics
Robert A. Waterland, Ph.D. Associate Professor Depts. of Pediatrics and Molecular Human Genetics Baylor College of Medicine Host: Dr. Susanne Talcott.

By: Texas A M Nutrition and Food Science

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Dr. Robert A. Waterland: Early nutritional influences on human developmental epigenetics - Video

PUBLIC RELEASE DATE:

12-Nov-2014

Contact: Gudrun Rappold gudrun_rappold@med.uni-heidelberg.de 0049-622-156-5059 Heidelberg University Hospital

Geneticists at Heidelberg University Hospital's Department of Molecular Human Genetics have used a new mouse model to demonstrate the way a certain genetic mutation is linked to a type of autism in humans and affects brain development and behavior. In the brain of genetically altered mice, the protein FOXP1 is not synthesized, which is also the case for individuals with a certain form of autism. Consequently, after birth the brain structures degenerate that play a key role in perception. The mice also exhibited abnormal behavior that is typical of autism. The new mouse model now allows the molecular mechanisms in which FOXP1 plays a role to be explained and the associated changes in the brain to be better understood.

"While these kinds of results from basic research cannot be directly translated into treatment, they are still quite valuable for the affected individuals or in this case, for their parents and family. For many of them, it is important to be able to specifically put a name to the disorder and understand it. It can make dealing with it easier," said Professor Gudrun Rappold, Head of the Department of Molecular Human Genetics at Heidelberg University Hospital and senior author of the article. The results have now been published in a preliminary online version in the journal Molecular Psychiatry in cooperation with Miriam Schneider, Institute of Psychopharmacology at the Central Institute of Mental Health in Mannheim, and Dr. Corentin Le Magueresse, German Cancer Research Center (DKFZ) and Professor Hannah Monyer, Department of Clinical Neurobiology, Heidelberg University Hospital and DKFZ in Heidelberg.

Autism is a congenital perception and information-processing disorder in the brain that is frequently accompanied by intellectual disability and in rare cases, superior intelligence and special gifts such as photographic memory. The disorder is characterized by limited social interaction, repetitive behavior and language impairment. Furthermore, a wide range of other disturbances can occur. "Today, in addition to the defect in the FOXP1 gene, we are familiar with other genetic mutations that cause autism or increase the risk of this kind of disorder. However, we are only able to understand how they affect the molecular processes in the neurons, brain development and behavior for a few of these mutations," Rappold said.

This is also the case for FOXP1. Back in 2010, clear signs that structural flaws in this protein play a role in autism and mental disability had been discovered. But what role does it play in the healthy brain? What signal pathways is it involved in? Which other proteins does it interact with and exactly what damage is caused by its absence? The new mouse model has helped to shed light on these questions. The researchers discovered that the mice were born with a normally developed brain for the most part. During the course of the first weeks of life, the striatum, which is important for perception and behavior, degenerates. In a centrally located brain structure as well - the hippocampus - which is indispensable for developing long-term memory and recall, microscopically visible changes occur that can also impact signal processing. It could be proven, for example, that in the affected neurons the impulse conduction is changed through which signals are transmitted between neurons.

In addition to the striatum, the ventricles of the brain are degenerated; these are adjacent structures in the murine brain. "Enlarged ventricles were also detected in humans with a FOXP1 mutation," explained Dr. Claire Bacon, who works in the Molecular Human Genetics Department and is first author of the publication. The changes also trigger abnormal behavior that is comparable to the symptoms of autistic patients. The mice barely noticed their fellow mice and did not attempt to make contact to them. Further symptoms include stereotypical compulsive repetitive behaviors, hyperactivity and disturbed nestbuilding behavior.

The researchers now intend to study to what extent the communication of noise by FOXP1 mice (mice communicate via noises in the ultrasonic range) is impaired and whether there are also parallels to the disturbances in patients with FOXP1 mutation in this area as well. In addition, they plan to characterize the newly identified genes impacted by the FOXP1 in the brain and find out which signaling cascades and response paths are disrupted. In this way, they hope to find starting points for a specific treatment. "However, we first have to understand exactly how these changes occur before we can develop treatment concepts," Rappold stressed.

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How does the brain develop in individuals with autism?

PUBLIC RELEASE DATE:

10-Nov-2014

Contact: Molly Grote molly.grote@oup.com 212-743-8337 Oxford University Press USA

In 2001, scientists were finally able to determine the full human genome sequence, and with that discovery began a genomic voyage back in time. Researchers are beginning to unravel our full genetic history, comparing it with closely related species to answer age old questions about how and when we evolved. New genomic evidence has also brought forth a set of questions never before considered, making the field of human evolution more vibrant than ever before.

In ANCESTORS IN OUR GENOME, molecular anthropologist Eugene E. Harris presents a lively and thorough history of the evolution of the human genome and our species. Drawing upon his unique combination of expertise in both population genetics and primate evolution, Harris traces human origins back to their source and explains many of the most intriguing questions that genome scientists are currently working to answer in simple terms.

I hope that you will bring this comprehensive account of our current understanding of the human genome to the attention of your audiences. If you would like to discuss reviews, excerpts, or would like to interview the author, please feel free to contact me.

ABOUT THE AUTHOR: Eugene E. Harris is Professor of Biological Sciences and Geology at the City University of New York, and a Research Affiliate of the Center for the Study of Human Origins at New York University.

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Praise for ANCESTORS IN OUR GENOME:

"Simply indispensable for any reader wishing to learn about the latest research on human origins." --Library Journal, starred review

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Book: 'Ancestors in Our Genome: The New Science of Human Evolution'

In a darkened lab in the north of England, a research associate is intensely focused on the microscope in front of her. She carefully maneuvers a long glass tube that she uses to manipulate early human embryos.

"It's like microsurgery," says Laura Irving of Newcastle University.

Irving is part of a team of scientists trying to replace defective DNA with healthy DNA. They hope this procedure could one day help women who are carrying genetic disorders have healthy children.

"We are talking about conditions for which there is currently no cure," says Dr. Doug Turnbull, a professor of neurology at Newcastle University who is leading the research. These mitochondrial diseases are caused by hereditary defects in human cells.

"Mitochondria are like little power stations present in all our cells," Turnbull says. These power stations provide the energy that cells need. If the mitochondrial DNA is defective, the cells don't work right. The cells in effect run out of energy.

"I see the anguish of the families in every clinic that I do," says Turnbull. The severity of the disease can vary, with some families seeing their babies die in the first few hours of life. For others it can be a slow, progressive illness often leading to an early death.

Mitochondria have their own DNA, separate from the DNA that helps control the color of our eyes and hair, the shape of our noses, and how tall or smart we are. The mitochondrial DNA is passed down from mothers to their children.

Replacing defective mitochondrial DNA with healthy DNA might prevent these diseases from occurring. And that's exactly what Turnbull and his team want to do: DNA transplants.

Newcastle University scientists perform DNA transplants on very early embryos. The scientists hold the embryo very still with the tip of a pipette, left. They pull out the nuclear DNA of a mother and father hoping to have a healthy baby. It's then inserted into the embryo of a donor with healthy mitochondrial DNA. That embryo has had the rest of its DNA removed.

But the idea of scientists manipulating a human being's DNA in this way is very controversial. It would be the first time genetic changes have been made in human DNA that would be passed on, down the generations, through the germline. Any baby born this way would have genes from three different people.

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Combining The DNA Of Three People Raises Ethical Questions

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Newswise BIRMINGHAM, Ala. In 2001, Christine Skibola, Ph.D., now a professor of epidemiology at the University of Alabama at Birmingham School of Public Health, joined forces with a small group seeking a large goal discovery of genetic and environmental links to the white blood cell tumors that collectively are called lymphomas.

This has now resulted in the largest epidemiology and genetic studies of non-Hodgkin lymphoma (NHL) ever conducted. Thus far, these studies have culminated into four genetics papers published in Nature Genetics, American Journal of Human Genetics and Nature Communications, and an entire monograph in the Journal of the National Cancer Institute Monographs comprising 13 papers on environmental and medical risk factors found to be associated with various lymphoma subtypes. More papers are on the way.

This sort of research is huge in scale. The hundreds of investigators involved did risk factor analysis and genome-wide association studies on more than 17,400 NHL cases and 23,000 matched controls from North America, Europe and Australia. Two recent Skibola papers, for example, included 140 different authors at 82 different universities, institutes or hospitals that were located in 16 U.S. states and 18 foreign countries.

This is what it takes now to get the large power to detect true associations in most cases, Skibola said.

Those results finding links to personal and family histories, or associations with individual genetic markers set the path for future research and future possible treatments.

Consider the stark difference in risk profiles discovered by Skibola and others for two of the most common types of NHL diffuse large B-cell lymphoma (DLBCL) and follicular lymphoma (FL).

On the one hand, when researchers looked at risk factors related to medical history, lifestyle, family history and occupation, the DLBCL patients had numerous significant risks. These included being obese as a young adult, having a history of any one of a number of autoimmune diseases and a family history of a blood cancer. Other factors, such as allergic conditions, a history of alcohol consumption or a previous blood transfusion for men, and hormone replacement therapy or oral contraceptive use for women, gave some protection from DLBCL. In contrast, only a few, modest epidemiology risk factors were found for FL.

On the other hand, when researchers looked at risk factors associated with genetic changes, the tables were reversed: FL had a number of profound genetic risk factors and DLBCL had much less.

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UAB Researcher Has Key Role in Massive Non-Hodgkin Lymphoma Study

Saying no one should be able to patent human DNA, the Childrens Hospital of Eastern Ontario is asking the Federal Court to declare patents on genes linked to an inherited heart condition called Long QT Syndrome invalid.

The potential implications of the legal challenge, the first of its kind in Canada, are huge.

If the court agrees with the hospitals argument that the patents should never have been issued in the first place, there would be a ripple effect on other such patents and pending patents on human DNA. TheU.S. Supreme Court has already made a similar ruling invalidating patents on human DNA.

Our position is very straightforward, hospital CEO Alex Munter told a press conference held just after court documents were filed in Toronto on Monday. No one should be able to patent human DNA, it would be like patenting air or water. Doing so, he said, has a negative impact on the future of medicine, on patients access to their own genetic information and on the quality of care.

CHEO is taking on the first Canadian case because it is a major centre for genetics research and clinical applications. Patents on genetic materials, such as the ones that touch on Long QT Syndrome, Muntersaid, are a major obstacle to research and treatment of genetic diseases. The patents in question, five of them, are held by the University of Utah, Genzyme Genetics and Yale University.

Our genetics leadership really is at the leading edge in Canada of moving us toward that era of personalized medicine that everyone is talking about, Munter said. But patents on human DNA, he added, have been identified as an obstacle that will stand in the way of delivering on that promised future.

Long QT Syndrome affects an estimated one in 2,500 newborns. It can lead to life-threatening arrhythmias and is the cause of a significant number of sudden deaths in young adults, sometimes seen in deaths of young athletes playing sports. Sometimes symptoms such as fainting spells during exercise can help doctors diagnose and treat a patient, but in some cases, the first symptom of the syndrome is sudden death, said Dr. Gail Graham, who heads the hospitals department of genetics.

The syndrome is fully treatable with medications once diagnosed, but it can be tricky to diagnose using electrocardiogram alone, Graham said. Genetic testing along with ECG can come up with a conclusive diagnosis.

CHEO was set to become one of Ontarios testing centres for the syndrome but the province received a cease-and-desist order from the holder of the patents that are linked to the disease. Now, because of the patents surrounding the genes involved in the disease, testing must be done in the U.S. at a cost of about $4,500 to $4,800 a patient, said Graham, compared to between $1,500 and $2, 000 if it could be done here. Being able to test here, she said, would save the Ontario health system $200,000 a year. If genes continue to be patented, she said, the cost to the provincial health system will rise into the millions every year.

CHEO is in the final stages of verifying a new genetic test that wouldsimultaneously sequence all of the thousands of genes in an individual that been linked to human genetic diseases. It is something that couldnt even be imagined five years ago, said Graham, chief of the hospitals department of genetics. But such a test creates a potential nightmare scenario for patients with undetected Long QT syndrome, she said. If thetest done on a patient incidentally turned up the genetic mutations for Long QTsyndrome, she said, lab scientistswould be prevented by law from passing that information along to the physician treating the patient, meaning a potentially fatal condition would go untreated.

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Ottawa hospital challenges patent on human genes (with video)

Should Canadian doctors, using the best science, be able to screen people for potentially fatal genetic diseases without fear of being hauled into court by American interests for violating commercial patents? Yes they should. And a case has just been launched in Federal Court to ensure that they can.

The Childrens Hospital of Eastern Ontario (CHEO) is challenging the validity of five patents held here in Canada for genes associated with Long QT syndrome. As the Stars Kate Allen reports, its a rare inherited heart disorder that causes chaotic heart beats and can be fatal. It is treatable. But the University of Utah Research Foundation, Genzyme Genetics and Yale University hold exclusive rights to the genetic sequences and tests involved in diagnosing the disorder.

CHEO is making a principled case that no one should be able to patent human DNA, the deoxyribonucleic acid that has been called the blueprint of life, and its gene segment. The hospital, a leader in genetic research and care, says it could do the screening for less than half the current $4,500 (U.S.) cost, were it not for the patents.

Moreover, it is developing a new test capable of diagnosing 5,000 genetic conditions, but worries that patents on some of that DNA might bar health care providers from sharing the results with patients, leaving potentially fatal conditions untreated. The problem could worsen as more companies patent more genes.

The very idea of patenting genes is offensive. While they can be discovered, chunks of human genetic material arent new scientific or commercial inventions; they are raw products of nature. No one can credibly claim to own such material. Nor should it be patented.

While this case promises to break legal ground in Canada, the courts have long recognized that laws of nature, natural phenomena and abstract ideas lie outside patent protection. Canada is one of the few advanced countries that still allow gene patenting.

Indeed, in a precedent-setting case the U.S. Supreme Court declared just last year that human genes cannot be patented. It ruled unanimously that Myriad Genetics Inc. could not patent naturally occurring BRCA1 and BRCA2 genes, linked to a risk of breast and ovarian cancers in women. Physicians, researchers and others had argued, convincingly, that the genes Myriad isolated and extracted werent materially different from native DNA, and that letting the firm patent genes would amount to awarding a patent on nature, giving it a monopoly that could hamper medical innovation, research and testing by others.

Yet despite the decisive U.S. ruling, Canadian policy and law remain sadly behind the times, as Richard Gold, a McGill University law professor, puts it. Prime Minister Stephen Harpers government hasnt seen fit to amend the Patent Act to prevent genes from being patented. And there has been no similar court challenge in this country, until now.

By now Parliament should have been seized of the need to clarify that the Patent Act should not be used to patent genes.

No one should have a monopoly on something that occurs naturally, says Alex Munter, CHEOs chief executive officer. Patenting a gene is like patenting the water we drink and the air we breathe. Genetics is the future of medicine, and we need clarity on this issue.

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Canada should ban patenting of human genes: Editorial