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Aaron Hall Profile and Articles
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1). "Genetics in the 21st Century"
According to Eric Lander, "People today are now living through the most stunning information revolution, unlike anything before in the history of science." He compared its importance to the chemist Mendeleev's critical observation around 1869 that all the elements of matter could be organized in a very simple table. With this discovery, Mendeleev laid the foundations for the chemical industry and for much of chemistry in the 20th century.
2). ELSI Working Group Responds to The Bell Curve
In 1994, a highly publicized book, Richard Herrnstein and Charles Murray's The Bell Curve, claimed that IQ is largely genetically determined and that the differences in IQ between ethnic groups are substantially explained by genetic factors. We are especially concerned about the impact of The Bell Curve and books developing similar themes, because we.
3). DOE Postdoctoral Fellows Named
DOE has announced the award of six 1995 Human Genome Distinguished Postdoctoral Fellowships to conduct research for up to 2 years at university or DOE laboratories. These fellowships were initiated by DOE to develop tools, technologies, and resources for deciphering the molecular nature of the human genome and to support related research. Winners were chosen from a field of applicants who received their doctoral degrees after April 30, 1993.
4). Human Gene Map Workshops Held
Substantial progress in developing a public-domain human transcript (gene) map was reported May 9-10 by researchers at Human Gene Map Workshop (HGMW) II in Cold Spring Harbor, N.Y., thesecond such workshop organized by HUGO. The Human Gene Map Initiative-an international effortto find and map expressed human genes and deposit the information in public databases-began last October in Washington, D.
5). JGI Refits Production Sequencing Facility
Accelerated goals are challenging the major Human Genome Project sequencing centers to restructure and streamline their processes. The Joint Genome Institute (JGI) Production Sequencing Facility is using 84 new high-throughput MegaBACE DNA sequencing machines acquired from Amersham Pharmacia Biotech. These machines use multiple thin "capillary" tubes instead of large flat gels to separate and "read" the DNA sequence.
6). "Protecting Genetic Privacy: Why It is So Hard to Do"
Mark Rothstein began his presentation by assuring the audience, "Although it will be more complicated than most people imagine, protecting genetic privacy and confidentiality is a worthy goal." Steps taken toward this goal so far, however, he characterized as misguided and simplistic. Before explaining this position further, he gave the audience useful background information on relevant issues.
7). "Ethical Issues in Human Gene Therapy"
LeRoy Walters provided a valuable perspective on some of the lessons learned by scientists and ethicists over the 18 years since the first human gene therapy protocol was approved. He also offered his predictions for future gene-therapy interventions and discussed some associated ethical dilemmas that society may be facing.
Walters began his talk with two case studies.
8). Human Genome Project faqs
Q. What is the value of the Human Genome Project?
A. My basic view is that the project will reap fantastic benefits for humankind, some that we can anticipate and others that will surprise us. Greater knowledge about the human genome will help us better understand the many diseases and heritable conditions that affect humans. Disease genes get all the attention, but much more profound is the need to understand normal biological functions.
9). Task Force Reports on Genetic Testing
Genetic Test: The analysis of human DNA, RNA, chromosomes, proteins, and certain metabolites to detect heritable disease-related genotypes, mutations, phenotypes, or karyotypes for clinical purposes. Such purposes include predicting risk of disease, identifying carriers, establishing prenatal and clinical diagnosis or prognosis, monitoring, and screening prenatally and in newborns, but they exclude tests conducted purely for research.
10). DOE Contractor-Grantee Workshop Program Overview
David Smith, Director of the DOE Health Effects and Life Sciences Research Division, observed that the Human Genome Project is ahead of schedule in many areas and increasingly international in scope. He cited achievements in mapping, resource development, instrumentation, and robotics, particularly noting the new maps and the completion of chromosome-specific libraries by the National Laboratory Gene Library Project (NLGLP) at LANL and LLNL.
11). NHGRI Sequencing Update
Lisa Brooks and Jeff Schloss [NIH National Human Genome Research Institute (NHGRI)] updated the workshop on current projects and future plans for NIH-supported large-scale sequencing. Third-year awards for pilot projects were made this summer after a review that included sequence-quality assessment of clones selected by NHGRI staff. Two checker groups reassemble trace files, assess the assembly quality overall and at the single-base level, and then sequence to resolve discrepancies found in the GenBank record.
12). Homing in on a DNA Sequence
Several speakers reported on the rapidly expanding work to develop new technologies for detecting specific DNA sequences. These technologies will be useful in identifying disease mutations and genetic typing of genes as well as for resequencing specific genomic regions. Many investigators are currently working on scaleup for diagnostic uses.
Repeat Sequences
Charles Cantor [Boston University (BU)] described hybridization-based methods for isolating and profiling triplet-repeat DNA sequences and for general mutation detection.
13). Understanding Health Risks from Low Doses of Ionizing Radiation
The Low Dose Radiation Research Program supports basic research to help characterize risk from exposure to low levels of ionizing radiation. This program is possible because of scientific advances in both genomics and technology over the past 10 years. Recognizing the importance of using these new and exciting tools and techniques, Congress requested in 1998 that DOE initiate a 10-year basic research program to support science that will underpin future risk-assessment standards and guidelines.
14). Commercial Strategies Aim to Spin DNA Threads into Gold
Intellectual-property issues have been unusually conspicuous in the recent history of genomic advances, even by the standards of the patent-weary genetics and molecular biology communities. Controversy has been particularly acute over intellectual-property rights in the results of large-scale cDNA sequencing.
Beginning in 1991 with NIH's filing of.
15). DOE Clone Resources Spur Disease-Gene Discoveries
Migraine
Two research groups report results suggesting a common genetic cause for migraine and epilepsy and the availability of an animal model that may be useful for further studies. Both groups used the chromosome 19 physical map and selected clones supplied by the Human Genome Center at Lawrence Livermore National Laboratory (LLNL).
Researchers.
16). Pending Legislation Could Impact Research
Two of the federal bills on genetics currently before Congress are the "Genetic Information and Nondiscrimination in Health Insurance Act of 1997" (H.R.306), introduced by Rep.Louise Slaughter (D-NY), and the "Genetic Confidentiality and Nondiscrimination Act of 1997" (S.422), introduced by Sen. Pete Domenici (R-NM).
H.R.306
H.R.306 addresses the genetics concern voiced most often by the American people: that test results could make health insurance more difficult or impossible to obtain.
17). Human Genome Project Milestones Celebrated at White House
Clinton Calls Working Draft "Starting Point for Even Greater Discoveries"
L-R: Venter, Patrinos, Collins
Craig Venter (head of Celera Genomics), Ari Patrinos (director of DOE Human Genome Program and Biological and Environmental Research Program), and Francis Collins (director, NIH National Human Genome Research Institute).
On June 26, Human Genome.
18). DOE Contractor-Grantee Workshop Resources and Technology Development
Several speakers discussed ongoing work in constructing genomic reagents and technologies critical for mapping, gene finding, sequencing, expression studies, and molecular cytogenetics. NLGLP. Larry Deaven (LANL) and Jeff Gingrich (LLNL) announced the successful completion of NLGLP Phase II; libraries are now available for each chromosome, with 40-kb inserts in cosmids and 10-kb inserts in lambda vectors.
19). Fox Chase Team Wins Smithsonian Award
Innovative Computer Technology Enables ''Virtual'' Centers
A Fox Chase Cancer Center (FCCC) team led by Kenneth Buetow won the top science prize in the seventh annual Computerworld Smithsonian Awards Program. The team designed a computer technology that enhanced construction of a comprehensive human genetic map by the Cooperative Human Linkage Center (CHLC), a collaborative group composed of researchers at FCCC, University of Iowa, Harvard University, and Marshfield Medical Foundation.
20). Superbug Survives Radiation, Eats Waste
A can of spoiled meat and nuclear waste may appear to have little in common, but the microbe Deinococcus radiodurans finds both environments rather cozy. Scientists hope this organism's ability to withstand massive doses of radiation will make it a useful tool for toxic-site remediation.
Although scientists now find it in many different soil and water sites around the world, D.
21). High-Resolution Image Reveals Structure of Protein Machine
Using a high-energy X-ray beam from the National Synchrotron Light Source (NSLS) at Brookhaven National Laboratory, researchers at Yale University and the Howard Hughes Medical Institute obtained the most detailed images ever seen of the ribosome (the protein-making structure inside all living cells). NSLS is a DOE Office of Biological and Environmental Research structural biology user facility.
22). Five-Year Research Goals of the U.S. Human Genome Project
Human DNA Sequence
* Achieve coverage of at least 90% of the genome in a working draft based on mapped clones by the end of 2001. * Finish one-third of the human DNA sequence by the end of 2001. * Finish the complete human genome sequence by the end of 2003. * Make the sequence totally and freely accessible.
Sequencing Technology
* Continue to increase the throughput and reduce the cost of current sequencing technology.
23). BAC End Sequencing Speeds Large and Small Projects
Ultimate goals of the Human Genome Project (HGP) are to determine the sequence of the 3 billion DNA bases that make up the human genome and to increase understanding of gene function. In search of the best route to these ends, researchers have generated several different types of useful chromosomal maps. Eventually, the human genome will be represented by DNA chromosome sequences with various levels of annotation.
24). Fast-Forwarding Through the Genome with cDNAs
Genes, which are housed in the DNA of the cell's nucleus, contain codes that essentially are recipes for tens of thousands of proteins. The code-containing regions of the gene (exons), however, are often separated by much noncoding DNA (introns). A cDNA molecule is a laboratory-made version of a gene that contains only its information-rich regions; these molecules provide a way for genome researchers to fast-forward through the genome to biologically important areas.
25). Education Key to Understanding, Acceptance
The increasing abilities to manipulate and analyze DNA are bringing profound changes to society, particularly in approaches to human health problems, personal identification, and agricultural development. To reap the benefits and avoid pitfalls inherent in DNA technology, the general public must have some understanding of DNA, how it is involved in heredity, and how it works in the cell, as well as the methods used to analyze and manipulate it.
26). HGP: Reaching Maryland's Minority Communities
About 150 leaders of minority communities came together June 20-21, 1997, at the University of Maryland, Baltimore (UMB) to learn about the Human Genome Project. The meeting was organized by Carmen Nieves (Center for Minority Health Research, UMB) and Ray Zilinskas (UM Biotechnology Institute, College Park). Its goal was to (1) inform minority communities.
27). Gene Patenting Update: U.S. PTO Tightens Requirements
Worries Continue over "Patent Stacking" and Early, Broad Patents
Massive amounts of data flowing from the Human Genome Project and other genomics projects have stimulated an avalanche of applications to the U.S. Patent and Trademark Office (PTO) for patents on genes and gene fragments. Some 3million ESTs (fragments that identify pieces of genes) and thousands of other partial and whole genes are included within pending patents.
28). HUGO Ethics Committee Statement Addresses Sample Collection, Sharing
In its February Statement on DNA Sampling: Control and Access, the international Human Genome Organisation's Ethics Committee addressed several ethical issues pertinent to sample collection and sharing in genetic research. The committee, which is made up of scientists, ethicists, and lawyers from ten countries, also confirmed its commitment to the principles of its March 1996 Statement on the Principled Conduct of Genetic Research.
29). Genetic Privacy and Property: Perspectives from Capitol Hill
Genetic information is highly personal and unique. The potential for its misuse threatens to penetrate many aspects of life, including employment, insurance, law enforcement, finance, and education. "Social policy needs to keep up with Human Genome Project discoveries," said U.S. Rep. Louise Slaughter (D-NY), participant in the 1996 Cape Cod working conversation on genetics and cosponsor of H.
30). High-Quality Sequence of Human Chromosomes 21, 22 Achieved
Two international research consortia marked major milestones in the Human Genome Project (HGP) with the completion of the first high-quality DNA sequences for two human chromosomes. Chromosomes 22 and 21 sequences, respectively, were reported in the December 2, 1999, and May 18, 2000, issues of Nature. These two chromosomes, smallest in the human genome, account for 2% to 3% of the total 3 billion DNA bases.
31). JASON Review of DOE Genome Program
Last year the DOE Office of Biological and Environmental Research invited an independent group of physicists and engineers (JASON group, run by Mitre Corporation) to review the technology, quality-control, and informatics components of the DOE Human Genome Program. The group released its first advisory report in January. Recommendations emphasize development of advanced technology; improvements in current technology; and establishment of a standardized, quantitative program for data-quality assessment.
32). Hollaender Fellows Named
DOE has announced the award of five 1996 Alexander Hollaender Distinguished Postdoctoral Fellowships for up to 2 years of research at DOE laboratories having substantial programs supportive of the Office of Health and Environmental Research's mission. The mission is to understand health and environmental effects associated with energy technologies and to develop and sustain research programs in life, biomedical, and environmental sciences.
33). Hudson Heads NCHGR Policy Office
Kathy Hudson has joined the NIH National Center for Human Genome Research (NCHGR) as Assistant Director for Policy Coordination. As head of the newly created Office for Policy Coordination, Hudson will be responsible for the Office of Communications, Office of Program Planning, and Office of Legislation.
Before joining NCHGR, Hudson was Senior Policy Analyst in the Office of the Assistant Secretary for Health at the Department of Health and Human Services.
34). DOE Contractor-Grantee Workshop Mapping Sessions
Chromosome 16.
Norman Doggett (LANL) summarized the 5-year chromosome 16 mapping effort that resulted in an integrated physical-genetic-cytogenetic map. A high-resolution (1-Mb) cytogenetic breakpoint map provided the framework for constructing all levels of the integrated map. The physical map consists of both a low-resolution (0.25-Mb) YAC contig map and a high-resolution (38 Mb) of the chromosome has already been defined to the level of EcoR I restriction sites.
35). DOE Contractor-Grantee Workshop Sequencing Sessions
Sequence Patenting and Technology Transfer. Rebecca Eisenberg (University of Michigan Law School) focused on technology transfer, proprietary rights to DNA sequences, and access to sequence databases. She pointed out that the U.S. government is uniquely situated to enrich the public domain and that, by restricting access to valuable discoveries, the current federal pro-patent policy may sometimes undermine rather than support incentives to develop new products.
36). GeneMap 98 Doubles Density of 1996 Map
In the special genome issue of Science (October 23, 1998), researchers reported the release of GeneMap 98, an updated human gene map that provides an early look at some of the most important regions of the human genome. Two to three times more detailed than the 1996 version, the new map contains some 30,000 human gene-based markers. It doubles the gene density of the previous release and represents perhaps half of all human genes.
37). Leaping Across Genomes
Luckily for researchers trying to find and understand human genes, nature does not reinvent the wheel. Many genes that are important for basic life functions are spared major evolutionary changes, with similarities retained across species, often even the order of the genes along the chromosomes.
The mouse, having long been used as a model for genetic studies, offers a highly characterized genetic system with many established inbred strains available for study.
38). Detailed Human Physical Map Published by Whitehead-MIT
STS-Based Map Represents Halfway Point to 100-kb Human Genome Project Goal
In December 1995, a team led by scientists at the Whitehead Institute Massachusetts Instituteof Technology (MIT) Center for Genome Research and Genethon presented the most detailed physical map of the human genome yet published. The new map which contains more than 15,000 STS DNA markers spaced an average of 199 kb apart, covers almost 95% of the entire genome.
39). Sequencing: Moving Toward Production
Last year's triumphs in sequencing entire microbial genomes [HGN 7(1), 5 (May-June 1995)] left little doubt that the era of large-scale sequencing had begun. The latest whole-genome sequencing feat was presented at the workshop, this time for the heat-loving, methane-producing M. jannaschii.
These remarkable accomplishments represent an important step toward developing and optimizing the technologies and strategies needed to fully sequence the 3 billion bases of human DNA.
40). International Large-Scale Sequencing Meeting
About 50 scientists from countries publicly supporting large-scale human genome sequencing attended an international meeting in Bermuda on February 25-28, 1996. The meeting was designed to coordinate, compare, and evaluate human genome mapping and sequencing strategies; consider the potential role of new technologies in sequencing and informatics; and discuss scenarios for data release.
41). ISMB-95 Addresses Computational Issues
Some 270 delegates attended the Third International Conference on Intelligent Systems for Molecular Biology (ISMB-95) held in Cambridge, England, on July 16-19, 1995. The conference brought together scientists who are using advanced computational methods to address problems in molecular biology. These methods include data modeling, machine learning,.
42). Web Site Provides HGP Access to Scientific and Public Audiences
The Human Genome Management Information System (HGMIS) was established in 1989 by the DOE Human Genome Program Task Group to inform scientists, policymakers, and the public about the program's research. To make Human Genome Project (HGP) data, technologies, and implications more accessible, HGMIS produces Human Genome News and a number of other information resources.
43). Bang for the Buck: Government-Backed Research Underpins Potentially High Payoff Ventures
Spinoffs of Human Genome Project technologies continue to impact U.S. Industries, including medicine, environmental technology, agriculture, chemicals, and energy production. U.S. leadership in science and technology reaffirms the value of publicly funded research such as that supported at universities and national laboratories and in industry. Two recent spinoffs from the DOE Human Genome Program follow.
44). Genomes: 15 Years Later
A common question asked by incredulous audiences 15 years ago was, "Whose genome will you sequence?" After all, there are several billion human genomes, we were reminded, all of them different. I often answered somewhat cryptically that we would sequence everyone's and no one's. We were after a reference human genome the organizational and structural properties of the genome that are invariant across our species.
45). Science Highlights Progress in Genomics
The annual genome issue of Science (October 23, 1998) highlights progress in genomics, including the analysis and use of genomic data from a variety of organisms. Articles report on new plant genome initiatives, provide an overview of 10 years of plant comparative genetics, and assess the conceptual organization and approaches of some current genome-related databases.
46). International Team Delivers C. elegans Sequence
For the first time, scientists have the nearly complete genetic instructions for an animal that, like humans, has a nervous system, digests food, and reproduces sexually. The 97-million-base genome of the tiny roundworm Caenorhabditis elegans was deciphered by an international team led by Robert Waterston (Washington University School of Medicine, St.
47). Research Pace Applauded at Santa Fe '96 Workshop
Martha Krebs, Director of the DOE Office of Energy Research (ER), welcomed participants to the fifth DOE Human Genome Program Contractor-Grantee Workshop on January 28 -- February 1, 1996. Krebs' assessment of the strengths and future directions of the program was well received by almost 400 researchers, program managers, and invited guests who met in Santa Fe, New Mexico.
48). Spreading the Word
ELSI Projects Target Diverse Audience
Worldwide progress toward obtaining a human DNA reference sequence has heightened the urgency of dealing with a host of challenging ethical, legal, and social issues (ELSI) surrounding the data. From the start, the DOE Human Genome Program has devoted up to 3% of its annual budget to addressing these topics, focusing.
49). Analyzing Genetic Discrimination in the Workplace
We have entered an age in which mankind wields increasing power to alter and dictate the course of nature. The mysteries of our genetic code have been unveiled, providing remarkable new insights into our unique human characteristics. Indeed, the information age has taken hold and the genetic revolution is upon us, and, with apologies to Aldous Huxley, we stand at the precipice of a brave new world.
50). Genes, Justice, and Human Rights
International Judiciaries Consider Opportunities and Challenges of New Technologies
From left, Justice Michael Kirby (Supreme Court of Australia), Vijaya Melnick (University of the District of Columbia), and Judge Barbara Rothstein (U.S. District Court for the Western District of Washington).
In an increasingly globalized world, the impact of scientific discoveries and applications quickly transcends national boundaries through the rapid exchange of products, people, and ideas.
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