Category Archives: Human Genetics

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'

12 March 2014

Genetic markers provide unprecedented primate link in human evolution

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.

Original post:
Genetic markers provide primate link in human evolution

In 2010, scientists in Italy reported that a woman and her daughter showed a puzzling array of disabilities, including epilepsy and cleft palate. The mother had previously lost a 15-day-old son to respiratory failure, and the research team noted that the mother and daughter were missing a large chunk of DNA on their X chromosome. But the researchers were unable to definitively show that the problems were tied to that genetic deletion.

Now a team from the University of Pennsylvania and The Children's Hospital of Philadelphia has confirmed that those patients' ailments resulted from the genetic anomaly. Creating mice that lacked the same region of DNA, the Penn and CHOP researchers showed that these animals suffered the same problems that afflicted the mother, daughter and son -- cleft palate, epilepsy and respiratory difficulties, a condition called human Xq22.1 deletion syndrome. And, by clarifying the syndrome's genetic basis, the researchers have laid the foundation for identifying the underlying molecular mechanism of these troubles and potentially treating them at their biological root.

"This study has demonstrated that deleting this region in mice causes them to respond like humans with the same deletion," said P. Jeremy Wang, senior author on the study and professor in the Penn School of Veterinary Medicine's Department of Animal Biology. "Now that we have a mouse model, we can dissect and try to genetically pinpoint which genes are responsible."

Wang co-led the study with his postdoctoral researcher Jian Zhou. Additional coauthors included Penn Vet's N. Adrian Leu and CHOP's Ethan Goldberg, Lei Zhou and Douglas Coulter.

The study appears in the journal Human Molecular Genetics.

To investigate the effects of missing this portion of DNA, more than 1 million base pairs long, the Penn team crossed existing mice that had particular deletions in their DNA to create a mouse that lacked the entire stretch that the human patients were missing. They quickly observed that all male mice died at birth due to respiratory failure. Females, who would have one normal X chromosome and one X chromosome with this missing stretch of genetic material, survived but had varying degrees of symptoms including epilepsy, cleft palate and other developmental problems.

"We believe this is because of skewed X chromosome inactivation," Wang said. "In females one of the X chromosomes' expression is randomly 'silenced' so that males and females have an equal dosage of genetic material from this sex chromosome under normal circumstances. In this case, if more female cells silence the X chromosome that has the deletion, the effects of the syndrome won't be as severe."

To narrow down which part of the deleted genetic material was responsible for the observed birth defects, the researchers genetically engineered one type of mice that lacked the first two-thirds of the original genetic deletion and another type that lacked the final third.

Unexpectedly, the mice lacking the two-thirds of the region on the X chromosome, which included 17 genes, did not display any respiratory failure, cleft palate or epilepsy.

"These mice were fine," Wang said. "It was very surprising to us that deleting this many genes on the X chromosome did not cause apparent problems for the mice."

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Link between missing DNA, birth defects confirmed

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.

Continued here:
'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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'Fly' meeting to spotlight research advances in genetics

Sequenom announced this week that CEO Harry Hixson plans to retire from that position in June, at the time of the company's stockholder meeting. Current President and Chief Operating Officer William Welch will assume Hixson's position upon his retirement. Hixson will continue to serve as chairman of the firm's board of directors, a title he has held since 2003. Welch also will be nominated to serve on the board at the annual meeting, Sequenom said. Also, CFO Paul Maier also will retire from his job in June, but will continue to work with the company as a consultant. Current VP and Chief Accounting Officer Carolyn Beaver will replace Maier as CFO upon his retirement. She previously was corporate VP and controller of Beckman Coulter. In addition, Dirk van den Boom will be promoted to be chief scientific and strategy officer. He has been with Sequenom since 1998, and he recently was the company's executive VP of R&D and chief technology officer.

Former Life Technologies executive Paul Grossman has joined Telegraph Hill Partners as a venture partner. Grossman previously was head of global strategy and corporate development at Life Tech, and he also held the same position at Invitrogen. Before he joined Invitrogen, Grossman held a variety of leadership roles at Applied Biosystems, including as a research scientist and patent attorney, VP of intellectual property, and VP of strategy and business development.

Becton Dickinson has appointed Amit Bhalla to be VP of global strategy and development. In the role, Bhalla will work with the senior management team to develop BD's overall strategy. Bhalla joins BD from Citi, where he has been director of equity research for life science tools and medical technology since 2006. Before joining Citi, he was VP of equity research for emerging medical technology at Morgan Stanley, and a technical operations R&D associate at Johnson and Johnson.

Link:
Genetics in Healthcare

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

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

Droplet Digital PCR for Gene Expression and MicroRNA Analysis
For more info, visit http://www.bio-rad.com/yt/9/QX200-DropletDigitalPCR This webinar provides an introduction to Bio-Rad #39;s Droplet Digital PCR (ddPCR) syst...

By: BioRadLifeScience

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Droplet Digital PCR for Gene Expression and MicroRNA Analysis - Video

As the justices prepare to hear arguments in the Myriad Genetics case, observers are debating the impact of the outcome on personalized medicine and whole-genome sequencing

Flickr/Be-Younger.com

When Daniel Weaver pitches Genformatic to potential investors, he feels obliged to note a future legal uncertainty. The two-year-old company, based in Austin, Texas, offers whole-genome sequencing and analysis to researchers and physicians, with plans to apply the technology to medical diagnostics. But Weaver fears that the company could become ensnared in a thicket of thousands of patents. Who knows how much it would cost in legal fees just to sort through that? he says.

Weaver and others in his line of business are looking to the US Supreme Court to prune that thicket. On 15 April, the court will hear arguments in a long-running lawsuit intended to answer one question: are human genes actually patentable? Yet the implications of the courts decision expected by the end of June may be narrower for business and medicine than many people hope and think. The case is limited to patents that cover the sequence of a gene, rather than methods used to analyze it (see A plethora of patents). Symbolically, this case is a pretty big deal, says Robert Cook-Deegan, a policy researcher at Duke University in Durham, North Carolina. But the practical consequences of it are limited.

The case, Association for Molecular Pathology v. Myriad Genetics, tackles the validity of patents owned by Myriad Genetics, a medical diagnostics company based in Salt Lake City, Utah, on isolated DNA that encompasses the human genes BRCA1 and BRCA2. Certain forms of these genes increase the risk of breast, ovarian and other cancers. Myriad says that its patents are necessary to protect its investment in research. But physicians and patients charge that the intellectual-property restrictions have limited development of and access to medical tests based on the genes. In 2009, the American Civil Liberties Union and the Public Patent Foundation, both based in New York, sued Myriad. The case has been rumbling through the courts ever since.

To many in biotechnology, it has ramifications beyond specific genes. The case highlights concerns that a network of individual gene patents could threaten the future of personalized medicine and whole-genome sequencing by blocking companies and clinicians from reporting a patients genetic risk factors for different diseases. Its as if somebody had a patent on the X-ray images of the pelvic region of a human being, says Weaver. You could administer the test, but you wouldnt be able to inform the patient about that region. Its crazy.

By some estimates, the number of patents on human DNA is indeed extensive. In 2005, researchers reported that 20% of human genes had been patented. Two weeks ago, another team raised that estimate to at least 41%. But some dispute these numbers and their implications. Christopher Holman, a law professor at the University of Missouri-Kansas City, read through 533 of the 4,270 patents referenced in the 2005 study, and found that more than one-quarter were unlikely to limit genetic testing. The literature is full of this kind of problem, he says.

His analysis was backed up by Nicholson Price, an academic fellow at Harvard Law School in Cambridge, Massachusetts, who found that few, if any, DNA patents would be infringed by companies or clinics sequencing whole genomes of individuals for medical insight. Many, for example, apply only to the selective isolation of specific stretches of DNA, says Price, whereas whole-genome sequencing is an untargeted sweep of the entire genome.

Myriads contested patents are part of a dying breed, says David Resnick, a patent attorney at the law firm Nixon Peabody in Boston, Massachusetts. They were filed in 1995, before much of the human genome was sequenced and put into the public domain. Many other US gene patents issued before the human genome was sequenced are no longer enforced, because the companies that hold them have stopped paying maintenance fees. This case is a conversation we should have had 20 years ago, says Resnick. Its moot now.

Cook-Deegan thinks that whole-genome approaches may still be threatened if courts interpret patent claims broadly. Christopher Mason, a genomics researcher at Weill Cornell Medical College in New York, says that companies and clinics should not have to bear the risk of a court case. If youre so sure those patents wont be a problem, he says, when I get sued, youll pay my court fees.

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Supreme Court Set to Hear Arguments on Whether Human Genes Can Be Patented