Archive for September, 2012

Oregon Health & Science University has scheduled a Sept. 22 memorial to celebrate the life of Dr. Robert Koler, a pioneer in genetics research.

Koler made important early discoveries in the field of genetically inherited blood disorders and anticipated early on the role that molecular biochemistry would play in curing disease. He also helped steer the university toward its current focus on genetics-based research.

"He believed that genetics was the way to the future," says former OHSU President Peter Kohler, who will speak at Koler's memorial.

The service starts at 2 p.m. in the OHSU Auditorium (Old Library Building), 3181 S.W. Sam Jackson Park Rd.

Koler, a provost emeritus and professor emeritus of medicine and molecular and medical genetics, died Aug. 2 at the age of 88.

Born in Wyoming on Valentine's Day, 1924, Koler and his family moved to Eugene where he studied at the University of Oregon during World War II. He married in 1945, and in 1947 he completed an accelerated Army training program at the university's medical school in Portland, the precursor to OHSU. During the Korean War; Koler worked as an Army captain and hospital physician in Japan.

Returning to the medical school in Oregon, he studied under noted hematologist Edwin Osgood, and in the 50s began working with Richard Jones, doing first-of-their kind studies of genetically inherited blood disorders.

Long before genetics became widely viewed as a way to cure disease, Koler preached its importance. After a 1960 sabbatical studying genetics at the Galton Institute in London he pushed the medical school to offer basic courses in genetics. Genetics became a division, then a full-fledged OHSU department in 1981, that he was selected to head. He later served in a variety of administrative jobs while continuing to push for genetics research.

After he retired in 1989, he offered to work as an advisor to then-OHSU vice-president Lesley Hallick, but turned down any pay, saying his retirement pay was enough.

"The mission of the instititution is what he loved," Hallick said.

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Sept. 22 memorial service scheduled for Robert Koler, Oregon Health & Science University genetics research pioneer

Researchers built up portrait from finger-bone fragment of Denisovan who lived and died in a Siberian cave

Scientists have reconstructed the entire genetic makeup of a girl who lived and died in a Siberian cave more than 50,000 years ago. The young woman belonged to a long extinct group of humans called Denisovans their existence known only from meagre fossil remains uncovered at the Denisova cave in the Altai mountains in 2008. They are thought to have occupied much of Asia tens of thousands of years ago. Previous tests on the remains found they were more closely related to Neanderthals than modern humans.

Writing in the journal Science, researchers in the U.S. and Germany describe how they sequenced the girls genome with an accuracy once considered impossible with such ancient specimens. The final sequence matched the quality of modern genetic tests on living people.

They sequenced single strands of DNA taken from a little finger bone found at the scene. The bone fragments, and two fossilised teeth, are the only remains of the Denisovans.

Studies on the girls genes suggest she had dark skin, brown hair and brown eyes, but other genetic factors help shed light on the Denisovans more broadly. Comparison of genetic material inherited separately from the girls mother and father points to a population with very low genetic diversity, probably a consequence of the Denisovans starting off as a small group of pioneers and expanding rapidly.

Svante Paabo, at the Max Planck Institute for Evolutionary Anthropology in Leipzig, said there was now no difference in what we can learn genetically about a person that lived 50,000 years ago and from a person today, provided that we have well-enough preserved bones.

The team from Leipzig and Harvard Medical School in Boston compared the Denisovan genome with similar sequences from Neanderthals and 11 modern humans from around the world. This revealed evidence for inbreeding, with Denisovan DNA living on in some populations alive today. Its clear that Denisovan material has contributed three to five per cent of the genomes of people in Australia and New Guinea and aboriginal people from the Philippines, and some of the islands nearby, said David Reich, a Harvard geneticist who worked on the study. The research highlighted scores of gene variants that are found in modern humans but not in Denisovans. Eight mutations that have arisen since our ancestors split from Denisovans are involved in brain function and nerve connectivity, for example.

This is perhaps, in the long term for me, the most fascinating thing about this: what it will tell us in the future about what makes us special in the world, relative to the Denisovans and Neanderthals, said Mr. Paabo.

Another 34 mutations found only in modern humans are associated with diseases, including four that affect the skin and eyes. Guardian Newspapers Limited, 2012

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Genetics of 50,000-year-old girl reconstructed

ScienceDaily (Sep. 1, 2012) Flying high, or down in the dumps -- individuals suffering from bipolar disorder alternate between depressive and manic episodes. Researchers from the University of Bonn and the Central Institute of Mental Health in Mannheim have now discovered, based on patient data and animal models, how the NCAN gene results in the manic symptoms of bipolar disorder.

The results have been published in the current issue of The American Journal of Psychiatry.

Individuals with bipolar disorder are on an emotional roller coaster. During depressive phases, they suffer from depression, diminished drive and often, also from suicidal thoughts. The manic episodes, however, are characterized by restlessness, euphoria, and delusions of grandeur. The genesis of this disease probably has both hereditary components as well as psychosocial environmental factors.

The NCAN gene plays a major part in how manias manifest

"It has been known that the NCAN gene plays an essential part in bipolar disorder," reports Prof. Dr. Markus M. Nthen, Director of the Institute of Human Genetics at the University of Bonn. "But until now, the functional connection has not been clear." In a large-scale study, researchers led by the University of Bonn and the Central Institute of Mental Health in Mannheim have now shown how the NCAN gene contributes to the genesis of mania. To do so, they evaluated the genetic data and the related descriptions of symptoms from 1218 patients with differing ratios between the manic and depressive components of bipolar disorder.

Comprehensive data from patients and animal models

Using the patients' detailed clinical data, the researchers tested statistically which of the symptoms are especially closely related to the NCAN gene. "Here it became obvious that the NCAN gene is very closely and quite specifically correlated with the manic symptoms," says Prof. Dr. Marcella Rietschel from the Central Institute of Mental Health in Mannheim. According to the data the gene is, however, not responsible for the depressive episodes in bipolar disorder.

Manic mice drank from sugar solution with abandon

A team working with Prof. Dr. Andreas Zimmer, Director of the Institute of Molecular Psychiatry at the University of Bonn, examined the molecular causes effected by the NCAN gene. The researchers studied mice in which the gene had been "knocked out." "It was shown that these animals had no depressive component in their behaviors, only manic ones," says Prof. Zimmer. These knockout mice were, e.g., considerably more active than the control group and showed a higher level of risk-taking behavior. In addition, they tended to exhibit increased reward-seeking behavior, which manifested itself by their unrestrained drinking from a sugar solution offered by the researchers.

Lithium therapy also effective against hyperactivity in mice

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Flying high: Researchers decipher manic gene

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/9fkkzb/cell_therapy_tec) has announced the addition of Jain PharmaBiotech's new report "Cell Therapy - Technologies, Markets and Companies" to their offering.

This report describes and evaluates cell therapy technologies and methods, which have already started to play an important role in the practice of medicine. Hematopoietic stem cell transplantation is replacing the old fashioned bone marrow transplants. Role of cells in drug discovery is also described. Cell therapy is bound to become a part of medical practice.

Stem cells are discussed in detail in one chapter. Some light is thrown on the current controversy of embryonic sources of stem cells and comparison with adult sources. Other sources of stem cells such as the placenta, cord blood and fat removed by liposuction are also discussed. Stem cells can also be genetically modified prior to transplantation.

Cell therapy technologies overlap with those of gene therapy, cancer vaccines, drug delivery, tissue engineering and regenerative medicine. Pharmaceutical applications of stem cells including those in drug discovery are also described. Various types of cells used, methods of preparation and culture, encapsulation and genetic engineering of cells are discussed. Sources of cells, both human and animal (xenotransplantation) are discussed. Methods of delivery of cell therapy range from injections to surgical implantation using special devices.

Cell therapy has applications in a large number of disorders. The most important are diseases of the nervous system and cancer which are the topics for separate chapters. Other applications include cardiac disorders (myocardial infarction and heart failure), diabetes mellitus, diseases of bones and joints, genetic disorders, and wounds of the skin and soft tissues.

Regulatory and ethical issues involving cell therapy are important and are discussed. Current political debate on the use of stem cells from embryonic sources (hESCs) is also presented. Safety is an essential consideration of any new therapy and regulations for cell therapy are those for biological preparations.

The cell-based markets was analyzed for 2011, and projected to 2021. The markets are analyzed according to therapeutic categories, technologies and geographical areas. The largest expansion will be in diseases of the central nervous system, cancer and cardiovascular disorders. Skin and soft tissue repair as well as diabetes mellitus will be other major markets.

The number of companies involved in cell therapy has increased remarkably during the past few years. More than 500 companies have been identified to be involved in cell therapy and 284 of these are profiled in part II of the report along with tabulation of 274 alliances. Of these companies, 154 are involved in stem cells. Profiles of 70 academic institutions in the US involved in cell therapy are also included in part II along with their commercial collaborations. The text is supplemented with 55 Tables and 11 Figures. The bibliography contains 1,050 selected references, which are cited in the text.

Key Topics Covered:

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Research and Markets: Cell Therapy - Technologies, Markets and Companies - Updated 2012 Report