Long View of the Human Genome Project BOOKS & ARTS
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The Honorable Francis Collins the Honorable Anthony S. Fauci
The Honorable Francis Collins The Honorable Anthony S. Fauci Director Director National Institutes of Health National Institute of Allergy and Infectious Diseases Building 1 5601 Fishers Ln 9000 Rockville Pike Rockville, MD 20852 Bethesda, MD 20892 August 25, 2020 Dear Director Collins and Director Fauci, I want to first thank you for your tireless work to ensure that we win the fight against COVID-19. This insidious virus is not only a public health crisis, but also a crisis that is having devastating consequences on our economy. Due to the urgent nature of this pandemic, it is vitally important that we develop effective treatments and vaccines to minimize the virus’ impact and ultimately eradicate it. While I am encouraged about the progress of vaccine development for COVID-19, including the Moderna vaccine which has entered phase 3 trials, I am concerned that those living in underserved communities, especially communities of color, will not be able to easily participate in these trials. I strongly urge you to consider an additional site in Los Angeles closer to and more accessible for my demographically diverse constituents – representing populations that are desperately needed to participate in these trials. The COVID-19 crisis affects all of us, but it is the latest disease to infect and kill communities of color at higher rates than people in the rest of the population. When conducting clinical trials for treatments and vaccines for COVID-19, there needs to be an emphasis to ensure that those who are participating in the trials are racially diverse, so that there are not any disparities in terms of the effectiveness of the treatment. -
Genomics and Its Impact on Science and Society: the Human Genome Project and Beyond
DOE/SC-0083 Genomics and Its Impact on Science and Society The Human Genome Project and Beyond U.S. Department of Energy Genome Research Programs: genomics.energy.gov A Primer ells are the fundamental working units of every living system. All the instructions Cneeded to direct their activities are contained within the chemical DNA (deoxyribonucleic acid). DNA from all organisms is made up of the same chemical and physical components. The DNA sequence is the particular side-by-side arrangement of bases along the DNA strand (e.g., ATTCCGGA). This order spells out the exact instruc- tions required to create a particular organism with protein complex its own unique traits. The genome is an organism’s complete set of DNA. Genomes vary widely in size: The smallest known genome for a free-living organism (a bac- terium) contains about 600,000 DNA base pairs, while human and mouse genomes have some From Genes to Proteins 3 billion (see p. 3). Except for mature red blood cells, all human cells contain a complete genome. Although genes get a lot of attention, the proteins DNA in each human cell is packaged into 46 chro- perform most life functions and even comprise the mosomes arranged into 23 pairs. Each chromosome is majority of cellular structures. Proteins are large, complex a physically separate molecule of DNA that ranges in molecules made up of chains of small chemical com- length from about 50 million to 250 million base pairs. pounds called amino acids. Chemical properties that A few types of major chromosomal abnormalities, distinguish the 20 different amino acids cause the including missing or extra copies or gross breaks and protein chains to fold up into specific three-dimensional rejoinings (translocations), can be detected by micro- structures that define their particular functions in the cell. -
From the Human Genome Project to Genomic Medicine a Journey to Advance Human Health
From the Human Genome Project to Genomic Medicine A Journey to Advance Human Health Eric Green, M.D., Ph.D. Director, NHGRI The Origin of “Genomics”: 1987 Genomics (1987) “For the newly developing discipline of [genome] mapping/sequencing (including the analysis of the information), we have adopted the term GENOMICS… ‘The Genome Institute’ Office for Human Genome Research 1988-1989 National Center for Human Genome Research 1989-1997 National Human Genome Research Institute 1997-present NHGRI: Circa 1990-2003 Human Genome Project NHGRI Today: Characteristic Features . Relatively young (~28 years) . Relatively small (~1.7% of NIH) . Unusual historical origins (think ‘Human Genome Project’) . Emphasis on ‘Team Science’ (think managed ‘consortia’) . Rapidly disseminating footprint (think ‘genomics’) . Novel societal/bioethics research component (think ‘ELSI’) . Over-achievers for trans-NIH initiatives (think ‘Common Fund’) . Vibrant (and large) Intramural Research Program A Quarter Century of Genomics Human Genome Sequenced for First Time by the Human Genome Project Genomic Medicine An emerging medical discipline that involves using genomic information about an individual as part of their clinical care (e.g., for diagnostic or therapeutic decision- making) and the other implications of that clinical use The Path to Genomic Medicine ? Human Realization of Genome Genomic Project Medicine Nature Nature Base Pairs to Bedside 2003 Heli201x to 1Health A Quarter Century of Genomics Human Genome Sequenced for First Time by the Human Genome Project -
Next-Generation Sequencing
Tinhofer et al. Radiation Oncology (2015) 10:183 DOI 10.1186/s13014-015-0481-x REVIEW Open Access Next-generation sequencing: hype and hope for development of personalized radiation therapy? Ingeborg Tinhofer1,2*, Franziska Niehr1,2, Robert Konschak1,2, Sandra Liebs2, Matthias Munz3, Albrecht Stenzinger4, Wilko Weichert4,5, Ulrich Keilholz6 and Volker Budach1,2 Abstract The introduction of next-generation sequencing (NGS) in the field of cancer research has boosted worldwide efforts of genome-wide personalized oncology aiming at identifying predictive biomarkers and novel actionable targets. Despite considerable progress in understanding the molecular biology of distinct cancer entities by the use of this revolutionary technology and despite contemporaneous innovations in drug development, translation of NGS findings into improved concepts for cancer treatment remains a challenge. The aim of this article is to describe shortly the NGS platforms for DNA sequencing and in more detail key achievements and unresolved hurdles. A special focus will be given on potential clinical applications of this innovative technique in the field of radiation oncology. Introduction and Wong et al. [11]. We will instead focus on key achieve- Recent technological advances in DNA sequencing with ments in cancer genetics and potential clinical applications of greater speed and resolution at lower costs has provided this innovative technique in the field of radiation oncology. new insights in cancer genetics. The next-generation se- quencing (NGS) technology is tremendously facilitating the in-depth genome-wide search for genetic alterations The advantages of NGS which might significantly contribute to aggressive and/or Next-generation sequencing has rapidly been evolv- treatment-resistant phenotypes of cancers, thereby es- ing within the last decade [10]. -
Proposed National Center for Advancing Translational Sciences Working Group
FINAL - September 21, 2011 National Institutes of Health Advisory Committee to the Director Proposed National Center for Advancing Translational Sciences Working Group SUMMARY OF FINDINGS Members: Maria Freire (chair), Julian Adams, Lee Babiss, Brook Byers, William Chin, Susan Desmond-Hellmann, David Ginsburg, Victoria Hale, Helen Hobbs, Robert Langer, Stelios Papadopoulos, Mary Pendergast, Moncef Slaoui, Marc Tessier-Lavigne, David Valle (full titles and affiliations can be found in Appendix A) Dr. Francis Collins convened a Working Group of the Advisory Committee to the NIH Director (ACD) to help identify innovative research areas and activities whereby the proposed National Center for Advancing Translational Sciences (pNCATS) can substantially contribute to catalyze, invigorate and streamline translational sciences nationally and globally (the full charge to the Working Group can be found in Appendix B). The Working Group met four times over the course of nine months. Its first meeting, on February 4, 2011, was held with members of the NIH Institute and Center Directors Working Group on pNCATS in Bethesda, Maryland. The Working Group also met via teleconference on May 24, 2011, and September 14, 2011, and held an in-person meeting in San Francisco, California, on July 15, 2011, where the group hosted two panel sessions to consult experts in project management and cross-sector partnerships (a list of participants can be found in Appendix C). The following represents the summary findings of the ACD-pNCATS Working Group over the course of these meetings. Revolutionize the Process of Translation: Goals for NCATS The creation of NCATS affords NIH a historic opportunity to catalyze, enable, and implement ground-breaking advances in translational sciences – innovations that will benefit all invested in improving human health. -
The Committee of Prominent Health Researchers and Nobel Laureates
PRESS RELEASE New York, NY, June 14, 2018 FOR IMMEDIATE RELEASE Committee of prominent health researchers and Nobel laureates renames the Prix Galien Pro Bono Humanum Award to recognize the global health leadership of Dr. Roy Vagelos was also the first recipient of the original Pro Bono Humanum Award, established in 2007 under the sponsorship of the late Foundation Honorary President and 1986 Nobel Peace Prize recipient, Pr. Elie Wiesel. That first award cited Dr. Vagelos for his unprecedented decision as CEO of a major global pharmaceutical company to donate the drug Mectizan to patients in 34 countries The Prix Galien USA Committee announced today to treat and prevent river blindness (onchocerciasis), that the Prix Galien Pro Bono Humanum Award a parasitic disease that ranks as a leading cause for individual service to improve the state of of preventable blindness in developing countries, human health will be renamed in honor of for “as much and as long as necessary.” Dr. P. Roy Vagelos, Retired Chairman and CEO, Merck & Co., Inc. Chairman of the Board, As result of this historic act of moral leadership, Regeneron Pharmaceuticals. The Roy Vagelos more than two billion treatments for 250 million Pro Bono Humanum Award for Global Health people in affected areas of the globe have been Equity will be presented at the annual Prix Galien donated by Merck & Co. over the past 30 years, USA Awards ceremony recognizing outstanding resulting in the eradication of the parasite in achievement in innovative medicines discovery on numerous countries in Africa and Latin America. Thursday, October 25, at the American Museum of Natural History in New York City. -
Plant Biology 2012…Going Communicating Plant Biology to the Mobile! General Public AAAS Fellows Class of 2011 Life Is About Choices
ASPB News THE NEWSLETTER OF THE AMERICAN SOCIETY OF PLANT BIOLOGISTS Volume 39, Number 2 March/April 2012 President’s Letter Inside This Issue Walk the Talk to Spread the Word Plant Biology 2012…Going Communicating Plant Biology to the Mobile! General Public AAAS Fellows Class of 2011 Life is about choices. plant biology is at the grocery store, where there’s TAB Articles Now Indexed on PubMed Resources (for most always a rich diversity of safe and relatively inex- of us) are limited, and pensive food. So where’s the problem we so urgently Steve Huber Teaching Tools in Plant every day we must each need to fix, one might ask. Changing this public Biology Seeks Freelance make decisions about where and how we spend perception will require innovative platforms and the Science Editors our time, efforts, and money. Likewise, federal and efforts of all ASPB members as “citizen advocates.” state governments face the continual challenge of We not only can help the public recognize there are prioritizing needs, which is especially important in many potential problems and challenges just ahead times of economic downturn when immediate and that require our action now, but also we must do “pressing” problems tend to receive heightened at- continued on page 5 tention and increased resources. One pressing problem many plant scientists wor- ry about is the sustainable production of sufficient Do you have ideas about how we (and sufficiently nutritious) food for a rapidly grow- can use social media to foster ing global population, especially in light of ongoing dialogue with the public? If so, I climate change. -
A Short History of DNA Technology 1865 - Gregor Mendel the Father of Genetics
A Short History of DNA Technology 1865 - Gregor Mendel The Father of Genetics The Augustinian monastery in old Brno, Moravia 1865 - Gregor Mendel • Law of Segregation • Law of Independent Assortment • Law of Dominance 1865 1915 - T.H. Morgan Genetics of Drosophila • Short generation time • Easy to maintain • Only 4 pairs of chromosomes 1865 1915 - T.H. Morgan •Genes located on chromosomes •Sex-linked inheritance wild type mutant •Gene linkage 0 •Recombination long aristae short aristae •Genetic mapping gray black body 48.5 body (cross-over maps) 57.5 red eyes cinnabar eyes 67.0 normal wings vestigial wings 104.5 red eyes brown eyes 1865 1928 - Frederick Griffith “Rough” colonies “Smooth” colonies Transformation of Streptococcus pneumoniae Living Living Heat killed Heat killed S cells mixed S cells R cells S cells with living R cells capsule Living S cells in blood Bacterial sample from dead mouse Strain Injection Results 1865 Beadle & Tatum - 1941 One Gene - One Enzyme Hypothesis Neurospora crassa Ascus Ascospores placed X-rays Fruiting on complete body medium All grow Minimal + amino acids No growth Minimal Minimal + vitamins in mutants Fragments placed on minimal medium Minimal plus: Mutant deficient in enzyme that synthesizes arginine Cys Glu Arg Lys His 1865 Beadle & Tatum - 1941 Gene A Gene B Gene C Minimal Medium + Citruline + Arginine + Ornithine Wild type PrecursorEnz A OrnithineEnz B CitrulineEnz C Arginine Metabolic block Class I Precursor OrnithineEnz B CitrulineEnz C Arginine Mutants Class II Mutants PrecursorEnz A Ornithine -
What Is the Human Genome Project?
University of Tennessee, Knoxville TRACE: Tennessee Research and Creative Exchange Supervised Undergraduate Student Research Chancellor’s Honors Program Projects and Creative Work Spring 4-2000 What is the Human Genome Project? Lauren Leigh Taylor University of Tennessee - Knoxville Follow this and additional works at: https://trace.tennessee.edu/utk_chanhonoproj Recommended Citation Taylor, Lauren Leigh, "What is the Human Genome Project?" (2000). Chancellor’s Honors Program Projects. https://trace.tennessee.edu/utk_chanhonoproj/434 This is brought to you for free and open access by the Supervised Undergraduate Student Research and Creative Work at TRACE: Tennessee Research and Creative Exchange. It has been accepted for inclusion in Chancellor’s Honors Program Projects by an authorized administrator of TRACE: Tennessee Research and Creative Exchange. For more information, please contact [email protected]. Lauren Taylor Senior Project- (very partial) Dr.Koontz, mentor Dr. Broadhead- I should have this ready to tum in by next Tuesday or Wednesday. Thanks for your grace-- Intro As part of the University of Tennessee Honors Program, I am required to submit a senior project, consisting of research and creative analysis supervised by a faculty mentor. Although these project topics may cover any subject, most students choose a topic that falls within their undergraduate course of study. I have chosen to do this as well. As a Biology major, I have undergone ample preparation to enter a highly advanced field of modern science and medicine. One of the "hot topics" of science today is the international collaboration of scientists working to map the human genome, known as the Human Genome Project. -
August 12, 2021 the Honorable Francis Collins, M.D., Ph.D. Director National Institutes of Health 9000 Rockville Pike Rockvil
August 12, 2021 The Honorable Francis Collins, M.D., Ph.D. Director National Institutes of Health 9000 Rockville Pike Rockville, MD 20892 Dear Director Collins: On May 20, 2021, we sent you a letter requesting information on the National Institutes of Health’s (NIH) 2014 funding pause on gain of function research.1 Your July 29, 2021, response failed to fully address the questions in our letter. Further, NIH’s response to us appears to be nearly identical to your response to another senator’s separate oversight request.2 Your refusal to provide detailed responses that fully address each oversight request is unacceptable. Specifically, the May 20, 2021 letter included 17 requests for documents and information on the 2014 gain of function moratorium.3 Rather than provide detailed responses to each request, NIH only offered a summary about the gain of function research moratorium and its review process for such research.4 Further, NIH claimed that no National Institute of Allergy and Infectious Diseases (NIAID) funding was approved to support gain of function research at the Wuhan lab.5 Yet, your response appeared to suggest that even approved experiments could result in a virus with a gain of function.6 Without any more detailed information, it is unclear whether this has ever occurred. NIH’s lack of response to the May 20 letter shows a complete disregard for congressional oversight and transparency. Congress and the American people have a right to know the complete truth about NIH’s role in funding potentially risky gain of function research. We expect you to specifically address all of our previous information requests and the additional requests below by no later than August 26, 2021: 1 Letter from Ron Johnson, U.S. -
Signature of Controversy
I n “In this volume Granville Sewell provides “As the debate over intelligent design grows T delightful and wide-ranging commentary on increasingly heated... it is refreshing to find a HE the origins debate and intelligent design... discussion of the topic that is calm, thoughtful, Sewell provides much needed clarity on topics and far-ranging, with no sense of having to B e ignature f that are too often misunderstood. His discussion advance an agenda or decimate the opposition. G I S o of the commonly confused problem of entropy In this regard, Granville Sewell’s In the NNI is a must read.” Beginning succeeds brilliantly.” Cornelius G. Hunter, Ph.D. William A. Dembski, Ph.D. N author of The Design Inference author of Science’s Blind Spot G ontroversy A N c In this wide-ranging collection of essays on origins, mathematician Granville Sewell looks at the D big bang, the fine-tuning of the laws of physics, and the evolution of life. He concludes that while O there is much in the history of life that seems to suggest natural causes, there is nothing to support THER Responses to critics of signature in the cEll Charles Darwin’s idea that natural selection of random variations can explain major evolutionary E S advances (“easily the dumbest idea ever taken seriously by science,” he calls it). Sewell explains S A Y why evolution is a fundamentally different and much more difficult problem than others solved s ON by science, and why increasing numbers of scientists are now recognizing what has long been I obvious to the layman, that there is no explanation possible without design. -
A Conversation with Francis Collins Director, National Institutes of Health
A CONVERSATION WITH FRANCIS COLLINS DIRECTOR, NATIONAL INSTITUTES OF HEALTH Dr. Francis Collins is a physician-geneticist noted for his landmark discoveries of disease genes and his leadership of the international Human Genome Project, which culminated in April 2003 with the completion of a finished sequence of the human DNA instruction book. He served as director of the National Human Genome Research Institute at NIH from 1993–2008. He was appointed NIH Director by President Barack Obama in 2009 and selected by President Donald Trump in 2017 to continue to serve in this role. Below is an excerpt from the conversation with Dr. Collins edited for length. Can you talk about some of the things that are on the cusp of being possible today because of biomedical research that maybe even five or ten years ago we wouldn’t have imagined possible? This is the part of my job that’s so fun — looking across the landscape of biomedical research at what’s becoming possible — so I’ll give you three. First, The BRAIN Initiative. The idea is that, with the development of new technologies, we might be able to figure out how the brain actually works — how those circuits in our 86-billion-neuron brain are able to do amazing things. By 2025, we aim to have uncovered some profoundly significant features of how the brain works. For instance, how does a memory get laid down? How do you retrieve it? I believe we’ll be seeing these kinds of things emerging in the next seven or eight years.