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Home Asia Unhedged China banks on gene power firms for precision medicine

By Asia Unhedged on January 6, 2016 in

(From Caixin Online)

By staff reporter Wang Qionghui

The Chinese government is powering a homegrown precision medicine initiative aimed at improving patient treatment for chronic ailments such as cardiovascular disease, cancer and diabetes.

Human genome

Officials have declared precision medicine a customized form of health care based on genome-sequencing technology as one of the nations foremost science and technology projects under the 13th Five-Year Plan for the 2016-20 period.

A document published after a March meeting hosted by the Ministry of Science and Technology says the central government plans to spend 20 billion yuan to support precision medicine research by 2030, matching an anticipated 40 billion yuan in private investment. Moreover, the top public health authority, the National Health and Family Planning Commission, is drafting a strategic plan for promoting precision medicines development nationwide.

Companies that expect to benefit from the initiative include Shenzhen-based BGI Genomics Co., Hangzhous Berry Genomics Co. and Beijing Biomarker Technologies. Although young, the genetics services sector in the country is already diversifying, with firms staking claims in specialties such as prenatal care and niche services like disease and cancer detection through genetic testing.

BGI, the nations leader in genome sequencing, is a 16-year-old company that bought U.S. medical equipment maker Complete Genomics in 2012 and last October rolled out its first homegrown genome sequencing machine. Berry, established in 2010, is Chinas second-largest genome sequencer and the developer of non-invasive prenatal testing procedure thats been offered since 2011. Beijing Biomarker, founded in 2009, serves research institutions with genetic analyses and testing services.

The precision medicine movement has also won the attention of Internet and computer companies. In October, the U.S. chip maker Intel Corp. and Chinas e-commerce leader Alibaba Group Holding Ltd. announced a three-way partnership with BGI. The firms said they will collaborate to build a cloud-based online platform allowing clinics to access genetic data and other precision medicine services.

Precision medicine requires sharing an individuals genetic data and comparing it to huge amounts of data from similar patients, said Li Yingrui, chief executive of BGI Tech Solution Co., a subsidiary of BGI. Health specialists then use those comparisons to find differences and similarities to work out precise treatment regimes for individual patients. Read more

Categories: Asia Unhedged, China

Tags: BGI Genomics, Caixin Online, Chinese 13th five-year plan, Chinese government precision medicine efforts, Chinese human genome companies, Chinese human genome research

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China banks on gene power firms for precision medicine ...

Introduction

The Academies have provided leadership in the past on controversial new areas of genetic research, such as recombinant DNA technology, human embryonic stem cell research, human cloning, and gain-of-function research. In keeping with these past efforts, the National Academy of Sciences and the National Academy of Medicine have launched a new initiative to inform decision making related to recent advances in human gene-editing research. [Learn about related Academies studies and reports on genetic research]

The initiative includesan international summit to convene global experts to discuss the scientific, ethical, and governance issues associated with human gene-editing research, as well as a comprehensive studyby a multidisciplinary, international committee that will examine the scientific underpinnings and clinical, ethical, legal, and social implications of human gene editing. The committee will issue a report in 2016 with findings and recommendations for the responsible use of human gene-editing research.

Latest News

Study on Human Gene Editing Begins; First Data-Gathering Meeting Feb. 11-12 NAS and NAM are now moving forward with the second component of the Academies' Human Gene Editing Initiative, an in-depth, comprehensive review of the science and policy of human gene editing. Read Announcement

International Summit Concludes The U.S. National Academy of Sciences, U.S. National Academy of Medicine, Chinese Academy of Sciences, and the U.K.'s Royal Society co-hosted athree-day international summitwhere global experts discussed the scientific, ethical, and governance issues associated with these new and emerging human gene-editing technologies.

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About This Initiative

Powerful new gene-editing technologies, such as CRISPR-Cas9, hold great promise for advancing science and treating disease, but they also raise concerns and present complex challenges, particularly because of their potential to be used to make genetic changes that could be passed on to future generations, thereby modifying the human germline.

The National Academy of Sciences and the National Academy of Medicine's human gene-editing initiative will provide researchers, clinicians, policymakers, and societies around the world with a comprehensive understanding of human gene editing to help inform decision making about this research and its application.

Subscribe to our mailing list for updates by clicking on the button below.Questions about the initiative should be directed togeneediting@nas.edu.

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Home | Human Gene-Editing Initiative

Dec. 8, 2015

Academies Consensus Study on Human Gene Editing Begins; First Data-Gathering Meeting Feb. 11-12, 2016

WASHINGTON -- Following the Dec. 1-3 International Summit on Human Gene Editing, the National Academy of Sciences and National Academy of Medicine are now moving forward with the second component of the Academies Human Gene Editing Initiative: a comprehensive study of the scientific underpinnings of human gene-editing technologies, their potential use in biomedical research and medicine -- including human germline editing -- and the clinical, ethical, legal, and social implications of their use.

The study committee will be co-chaired by Alta Charo, the Warren P. Knowles Professor of Law and Bioethics at the University of Wisconsin, Madison, and Richard Hynes, the Daniel K. Ludwig Professor for Cancer Research at the Massachusetts Institute of Technology and Howard Hughes Medical Institute Investigator. Hynes and Charo served on the committee that developed the Academies 2005 guidelines on stem cell research.

The new study committee began its information-gathering process by attending the December summit. Over the next year, it will perform its own independent, in-depth, and comprehensive review of the science and policy of human gene editing by reviewing the literature and holding data-gathering meetings in the U.S. and abroad to solicit broad input from researchers, clinicians, policymakers, and the public. The committee will also monitor in real-time the latest scientific achievements of importance in this rapidly developing field. Finally, while informed by the statement issued by the organizing committee for the international summit, the study committee will have broad discretion to arrive at its own findings and conclusions, which will be released in a peer-reviewed consensus report. Expected to be completed late in 2016, the report will represent the official views of the NAS and NAM.

The study committee has been tasked with addressing the following questions:

1. What is the current state of the science of human gene editing, and what are possible future directions and challenges to further advances in this research?

2. What are the potential clinical applications that may hold promise for the treatment of human diseases? What alternative approaches exist?

3. What is known about the efficacy and risks of gene editing in humans, and what research might increase the specificity and efficacy of human gene editing while reducing risks? Will further advances in gene editing introduce additional potential clinical applications while reducing concerns about patient safety?

4. Can or should explicit scientific standards be established for quantifying off-target genome alterations and, if so, how should such standards be applied for use in the treatment of human diseases?

5. Do current ethical and legal standards for human subjects research adequately address human gene editing, including germline editing? What are the ethical, legal, and social implications of the use of current and projected gene-editing technologies in humans?

6. What principles or frameworks might provide appropriate oversight for somatic and germline editing in humans? How might they help determine whether, and which applications of, gene editing in humans should go forward? What safeguards should be in place to ensure proper conduct of gene-editing research and use of gene-editing techniques?

7. Provide examples of how these issues are being addressed in the international context. What are the prospects for harmonizing policies? What can be learned from the approaches being applied in different jurisdictions?

The NAS/NAM study committees report will provide a framework based on fundamental, underlying principles that may be adapted by any nation considering the development of guidelines for human gene-editing research, with a focus on advice for the U.S.

The committees next meeting is scheduled for Feb. 11-12, 2016, in Washington, D.C. It will include sessions open to the public. A committee roster follows. For more information, visit http://nationalacademies.org/gene-editing/consensus-study/index.htm.

The National Academy of Sciences and the National Academy of Medicine are private, nonprofit institutions that provide independent, objective analysis and advice to the nation to solve complex problems and inform public policy decisions related to science and medicine. The Academies operate under an 1863 congressional charter to the National Academy of Sciences, signed by President Lincoln.

Contacts:

William Skane, Executive Director

Emily Raschke, Media Assistant

Office of News and Public Information

202-334-2138; e-mail news@nas.edu

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Committee on Human Gene Editing: Scientific, Medical, and Ethical Considerations

R. Alta Charo (co-chair)

Warren P. Knowles Professor of Law and Bioethics

School of Law and School of Medicine and Public Health

University of Wisconsin

Madison

Richard O. Hynes (co-chair)

Investigator

Howard Hughes Medical Institute; and

Daniel K. Ludwig Professor for Cancer Research

Koch Institute for Integrative Cancer Research

Massachusetts Institute of Technology

Cambridge

David W. Beier

Managing Director

Bay City Capital

San Francisco

Juan Carlos I. Belmonte

Professor

Gene Expression Laboratories

Salk Institute for Biological Studies

La Jolla, Calif.

Ellen W. Clayton

Craig Weaver Professor of Pediatrics and

Professor of Law

Vanderbilt University

Nashville, Tenn.

Barry S. Coller

Physician-in-Chief

Rockefeller University Hospital; and

Vice President for Medical Affairs,

David Rockefeller Professor of Medicine, and

Head, Allen and Frances Laboratory of Blood and Vascular Disease

The Rockefeller University

New York City

John H. Evans

Professor of Sociology and Associate Dean of Social Sciences

University of California

San Diego

Rudolf Jaenisch

Professor of Biology

Whitehead Institute for Biomedical Research

Massachusetts Institute of Technology

Cambridge

Jeffrey Kahn

Robert Henry Levi and Ryda Hecht Levi Professor of Bioethics and Public Policy

Berman Institute of Bioethics

Johns Hopkins University

Baltimore

Robin Lovell-Badge

Group Leader and Head

Division of Stem Cell Biology and Developmental Genetics

The Francis Crick Institute

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Home | The National Academies of Sciences, Engineering ...

8 October 2007

The Nobel Assembly at Karolinska Institutet has today decided to award The Nobel Prize in Physiology or Medicine for 2007 jointly to

Mario R. Capecchi, Martin J. Evans and Oliver Smithies

for their discoveries of "principles for introducing specific gene modifications in mice by the use of embryonic stem cells"

This year's Nobel Laureates have made a series of ground-breaking discoveries concerning embryonic stem cells and DNA recombination in mammals. Their discoveries led to the creation of an immensely powerful technology referred to as gene targeting in mice. It is now being applied to virtually all areas of biomedicine from basic research to the development of new therapies.

Gene targeting is often used to inactivate single genes. Such gene "knockout" experiments have elucidated the roles of numerous genes in embryonic development, adult physiology, aging and disease. To date, more than ten thousand mouse genes (approximately half of the genes in the mammalian genome) have been knocked out. Ongoing international efforts will make "knockout mice" for all genes available within the near future.

With gene targeting it is now possible to produce almost any type of DNA modification in the mouse genome, allowing scientists to establish the roles of individual genes in health and disease. Gene targeting has already produced more than five hundred different mouse models of human disorders, including cardiovascular and neuro-degenerative diseases, diabetes and cancer.

Information about the development and function of our bodies throughout life is carried within the DNA. Our DNA is packaged in chromosomes, which occur in pairs one inherited from the father and one from the mother. Exchange of DNA sequences within such chromosome pairs increases genetic variation in the population and occurs by a process called homologous recombination. This process is conserved throughout evolution and was demonstrated in bacteria more than 50 years ago by the 1958 Nobel Laureate Joshua Lederberg.

Mario Capecchi and Oliver Smithies both had the vision that homologous recombination could be used to specifically modify genes in mammalian cells and they worked consistently towards this goal.

Capecchi demonstrated that homologous recombination could take place between introduced DNA and the chromosomes in mammalian cells. He showed that defective genes could be repaired by homologous recombination with the incoming DNA. Smithies initially tried to repair mutated genes in human cells. He thought that certain inherited blood diseases could be treated by correcting the disease-causing mutations in bone marrow stem cells. In these attempts Smithies discovered that endogenous genes could be targeted irrespective of their activity. This suggested that all genes may be accessible to modification by homologous recombination.

The cell types initially studied by Capecchi and Smithies could not be used to create gene-targeted animals. This required another type of cell, one which could give rise to germ cells. Only then could the DNA modifications be inherited.

Martin Evans had worked with mouse embryonal carcinoma (EC) cells, which although they came from tumors could give rise to almost any cell type. He had the vision to use EC cells as vehicles to introduce genetic material into the mouse germ line. His attempts were initially unsuccessful because EC cells carried abnormal chromosomes and could not therefore contribute to germ cell formation. Looking for alternatives Evans discovered that chromosomally normal cell cultures could be established directly from early mouse embryos. These cells are now referred to as embryonic stem (ES) cells.

The next step was to show that ES cells could contribute to the germ line (see Figure). Embryos from one mouse strain were injected with ES cells from another mouse strain. These mosaic embryos (i.e. composed of cells from both strains) were then carried to term by surrogate mothers. The mosaic offspring was subsequently mated, and the presence of ES cell-derived genes detected in the pups. These genes would now be inherited according to Mendels laws.

Evans now began to modify the ES cells genetically and for this purpose chose retroviruses, which integrate their genes into the chromosomes. He demonstrated transfer of such retroviral DNA from ES cells, through mosaic mice, into the mouse germ line. Evans had used the ES cells to generate mice that carried new genetic material.

By 1986 all the pieces were at hand to begin generating the first gene targeted ES cells. Capecchi and Smithies had demonstrated that genes could be targeted by homologous recombination in cultured cells, and Evans had contributed the necessary vehicle to the mouse germ line the ES-cells. The next step was to combine the two.

For their initial experiments both Smithies and Capecchi chose a gene (hprt) that was easily identified. This gene is involved in a rare inherited human disease (Lesch-Nyhan syndrome). Capecchi refined the strategies for targeting genes and developed a new method (positive-negative selection, see Figure) that could be generally applied.

The first reports in which homologous recombination in ES cells was used to generate gene-targeted mice were published in 1989. Since then, the number of reported knockout mouse strains has risen exponentially. Gene targeting has developed into a highly versatile technology. It is now possible to introduce mutations that can be activated at specific time points, or in specific cells or organs, both during development and in the adult animal.

Almost every aspect of mammalian physiology can be studied by gene targeting. We have consequently witnessed an explosion of research activities applying the technology. Gene targeting has now been used by so many research groups and in so many contexts that it is impossible to make a brief summary of the results. Some of the later contributions of this year's Nobel Laureates are presented below.

Gene targeting has helped us understand the roles of many hundreds of genes in mammalian fetal development. Capecchis research has uncovered the roles of genes involved in mammalian organ development and in the establishment of the body plan. His work has shed light on the causes of several human inborn malformations.

Evans applied gene targeting to develop mouse models for human diseases. He developed several models for the inherited human disease cystic fibrosis and has used these models to study disease mechanisms and to test the effects of gene therapy.

Smithies also used gene targeting to develop mouse models for inherited diseases such as cystic fibrosis and the blood disease thalassemia. He has also developed numerous mouse models for common human diseases such as hypertension and atherosclerosis.

In summary, gene targeting in mice has pervaded all fields of biomedicine. Its impact on the understanding of gene function and its benefits to mankind will continue to increase over many years to come.

Mario R. Capecchi, born 1937 in Italy, US citizen, PhD in Biophysics 1967, Harvard University, Cambridge, MA, USA. Howard Hughes Medical Institute Investigator and Distinguished Professor of Human Genetics and Biology at the University of Utah, Salt Lake City, UT, USA.

Sir Martin J. Evans, born 1941 in Great Britain, British citizen, PhD in Anatomy and Embryology 1969, University College, London, UK. Director of the School of Biosciences and Professor of Mammalian Genetics, Cardiff University, UK.

Oliver Smithies, born 1925 in Great Britain, US citizen, PhD in Biochemistry 1951, Oxford University, UK. Excellence Professor of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, NC, USA.

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To cite this page MLA style: "The 2007 Nobel Prize in Physiology or Medicine - Press Release". Nobelprize.org. Nobel Media AB 2014. Web. 2 Feb 2016. <http://www.nobelprize.org/nobel_prizes/medicine/laureates/2007/press.html>

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The 2007 Nobel Prize in Physiology or Medicine - Press Release

The right drug at the right dose at the right time. Those goals drive pharmacogenomics how genetics influence a person's response to medications.

Chemotherapy drugs are more effective when treating certain types of cancers. Codeine offers no pain relief in some patients and in others causes life-threatening reactions, such as respiratory depression. Other individuals experience harmful side effects from statin drugs designed to lower cholesterol levels. Finding the right dose of blood-thinning agents, such as warfarin, can involve a long process of trial and error.

Some Food and Drug Administration-approved drug labels contain warnings or information about potential adverse event risks, variable responses, drug-action mechanisms or genotype-based drug dosing. Recommendations are based on genomic information about the drug.

Pharmacogenomics drives greater drug effectiveness, with increased safety and reduced side effects. At Mayo Clinic, drug-gene alerts are part of the electronic medical record system, assisting providers in delivering safer, more effective care.

Each day, research uncovers new gene variants or novel drug-gene interactions that influence whether a patient may be harmed or helped by a medication. Keeping up to date with complex, new genomic information is a challenging task for clinicians, but decision-support tools and online education helps.

The Center for Individualized Medicine at Mayo Clinic is adding drug-gene interactions to the patient electronic medical record to alert physicians and pharmacists at the point of care as part of the clinical decision-support system.

If genomic information exists for a drug-gene interaction, alerts are triggered in the patient's electronic medical record to guide the clinician regarding prescription choices and dosing recommendations.

A team of physicians, pharmacists, genetic counselors and medical educators provides just-in-time education linked to these pop-up alerts. Online resources provide information about:

Ongoing discovery and validation of new drug-gene pairs at Mayo Clinic and elsewhere will result in additional alerts being added to the electronic medical record.

Applied pharmacogenomics resolves patient's lifelong anxiety and depression.

Read more here:
Drug-Gene Alerts - Mayo Clinic Center for Individualized ...

Assistant Professor of Clinical Pathology and Dermatology Director of Dermatopathology

Dr. Kim is an assistant professor of dermatology and pathology at USC where he serves as the director of dermatopathology. He joined the Keck School of Medicine in July 2008.

Dr. Kim has lived and trained in many parts of the United States. Most recently, he completed a dermatopathology fellowship at Northwestern University in Chicago. Prior to that, he joined the faculty at Indiana University Department of Dermatology in Indianapolis.

Dr. Kim completed his dermatology residency at New York University in Manhattan where he also served as chief resident. He earned his undergraduate and medical degrees from Duke University and Indiana University, respectively.

Dr. Kim has earned numerous academic distinctions during his career. In addition to these distinctions, Dr. Kim has also won awards for community service leadership. Dr. Kim cares for patients with all types of dermatologic conditions. He is also available for dermatopathology consultations.

Link:
Keck Medicine of USC - Gene H. Kim