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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. -
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. -
Hereditary Spherocytosis: Clinical Features
Title Overview: Hereditary Hematological Disorders of red cell shape. Disorders Red cell Enzyme disorders Disorders of Hemoglobin Inherited bleeding disorders- platelet disorders, coagulation factor Anthea Greenway MBBS FRACP FRCPA Visiting Associate deficiencies Division of Pediatric Hematology-Oncology Duke University Health Service Inherited Thrombophilia Hereditary Disorders of red cell Disorders of red cell shape (cytoskeleton): cytoskeleton: • Mutations of 5 proteins connect cytoskeleton of red cell to red cell membrane • Hereditary Spherocytosis- sphere – Spectrin (composed of alpha, beta heterodimers) –Ankyrin • Hereditary Elliptocytosis-ellipse, elongated forms – Pallidin (band 4.2) – Band 4.1 (protein 4.1) • Hereditary Pyropoikilocytosis-bizarre red cell forms – Band 3 protein (the anion exchanger, AE1) – RhAG (the Rh-associated glycoprotein) Normal red blood cell- discoid, with membrane flexibility Hereditary Spherocytosis: Clinical features: • Most common hereditary hemolytic disorder (red cell • Neonatal jaundice- severe (phototherapy), +/- anaemia membrane) • Hemolytic anemia- moderate in 60-75% cases • Mutations of one of 5 genes (chromosome 8) for • Severe hemolytic anaemia in 5% (AR, parents ASx) cytoskeletal proteins, overall effect is spectrin • fatigue, jaundice, dark urine deficiency, severity dependant on spectrin deficiency • SplenomegalSplenomegaly • 200-300:million births, most common in Northern • Chronic complications- growth impairment, gallstones European countries • Often follows clinical course of affected -
MICHIGAN BIRTH DEFECTS REGISTRY Cytogenetics Laboratory Reporting Instructions 2002
MICHIGAN BIRTH DEFECTS REGISTRY Cytogenetics Laboratory Reporting Instructions 2002 Michigan Department of Community Health Community Public Health Agency and Center for Health Statistics 3423 N. Martin Luther King Jr. Blvd. P. O. Box 30691 Lansing, Michigan 48909 Michigan Department of Community Health James K. Haveman, Jr., Director B-274a (March, 2002) Authority: P.A. 236 of 1988 BIRTH DEFECTS REGISTRY MICHIGAN DEPARTMENT OF COMMUNITY HEALTH BIRTH DEFECTS REGISTRY STAFF The Michigan Birth Defects Registry staff prepared this manual to provide the information needed to submit reports. The manual contains copies of the legislation mandating the Registry, the Rules for reporting birth defects, information about reportable and non reportable birth defects, and methods of reporting. Changes in the manual will be sent to each hospital contact to assist in complete and accurate reporting. We are interested in your comments about the manual and any suggestions about information you would like to receive. The Michigan Birth Defects Registry is located in the Office of the State Registrar and Division of Health Statistics. Registry staff can be reached at the following address: Michigan Birth Defects Registry 3423 N. Martin Luther King Jr. Blvd. P.O. Box 30691 Lansing MI 48909 Telephone number (517) 335-8678 FAX (517) 335-9513 FOR ASSISTANCE WITH SPECIFIC QUESTIONS PLEASE CONTACT Glenn E. Copeland (517) 335-8677 Cytogenetics Laboratory Reporting Instructions I. INTRODUCTION This manual provides detailed instructions on the proper reporting of diagnosed birth defects by cytogenetics laboratories. A report is required from cytogenetics laboratories whenever a reportable condition is diagnosed for patients under the age of two years. -
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. -
Long View of the Human Genome Project BOOKS & ARTS
Vol 466|19 August 2010 BOOKS & ARTS Long view of the Human Genome Project A bold attempt to tell the complicated story behind the human DNA sequence highlights that social change is needed before personalized medicine can take off, finds Jan Witkowski. Drawing the Map of Life: Inside the Human TTY E Genome Project by Victor K. McElheny Basic Books: 2010. 384 pp. $28, £16.99 S. JAFFE/AFP/G S. In 1985, Robert Sinsheimer, then chancellor of the University of California, Santa Cruz, convened a workshop to discuss sequencing the human genome. It was an audacious proposal: the longest genome that had been sequenced at the time was that of the Epstein- Barr virus, at 172,282 base pairs compared with 3 billion in human DNA. Sinsheimer’s initiative failed. Yet the idea gained momentum when, in 1988, James Watson was appointed associate director of the Office of Genome Research, part of the US National Institutes of Health (NIH). Watson declared 1990 the official start of the publicly funded NIH Human Genome Project (HGP). In 1998, Craig Venter and his company Celera Genomics, then in Rockville, Maryland, joined the race. Ten years ago in June, both projects announced a finish-line draw from President Bill Clinton’s White House. Febru- ary 2011 will mark a decade since the draft sequences were published. Genome-project pioneers: (left to right) Eric Lander, Robert Waterston, James Watson and Francis Collins. In Drawing the Map of Life, science jour- nalist and author Victor McElheny relates McElheny traces the various stages of the In 2000, HGP and Celera jointly announced the story of the HGP, from its methods to the HGP and the power struggles it engendered. -
Hereditary Spherocytosis
Hereditary Spherocytosis o RBC band 3 protein testing is a very sensitive and Indications for Ordering specific test for the diagnosis of hereditary Use to confirm diagnosis of hereditary spherocytosis when spherocytosis hemolytic anemia and spherocytes are present Physiology • RBC band 3 protein is a major structural protein of RBCs Test Description o Reduction in the amount of band 3 fluorescence after Test Methodology binding with EMA correlates with spherocytosis • Red blood cell (RBC) surface protein band 3 staining with Genetics eosin-5-maleimide (EMA) analyzed by flow cytometry Clinical Validation Genes: ANK1, EPB42, SLC4A1, SPTA1, SPTB • Validated against the clinical diagnosis of hereditary Inheritance spherocytosis supported by osmotic fragility and/or • Autosomal dominant: 75% molecular testing • Autosomal recessive: 25% Tests to Consider Penetrance: variable Structure/Function Primary Test • Chromosomal location: 17q21.31 RBC Band 3 Protein Reduction in Hereditary Spherocytosis • Provides structure for the red cell cytoskeleton 2008460 • Use to confirm diagnosis of hereditary spherocytosis Test Interpretation when hemolytic anemia and spherocytes are present Sensitivity/Specificity Related Test • Clinical sensitivity: 93% Osmotic Fragility, Erythrocyte 2002257 • Analytical sensitivity/specificity: unknown • Functional testing of RBC sensitivity to osmotic stress Results Disease Overview • Normal o Normal staining of band 3 protein with EMA does not Prevalence: 1/2,000 in northern Europeans suggest hereditary spherocytosis -
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. -
Genetic Disorder
Genetic disorder Single gene disorder Prevalence of some single gene disorders[citation needed] A single gene disorder is the result of a single mutated gene. Disorder Prevalence (approximate) There are estimated to be over 4000 human diseases caused Autosomal dominant by single gene defects. Single gene disorders can be passed Familial hypercholesterolemia 1 in 500 on to subsequent generations in several ways. Genomic Polycystic kidney disease 1 in 1250 imprinting and uniparental disomy, however, may affect Hereditary spherocytosis 1 in 5,000 inheritance patterns. The divisions between recessive [2] Marfan syndrome 1 in 4,000 and dominant types are not "hard and fast" although the [3] Huntington disease 1 in 15,000 divisions between autosomal and X-linked types are (since Autosomal recessive the latter types are distinguished purely based on 1 in 625 the chromosomal location of Sickle cell anemia the gene). For example, (African Americans) achondroplasia is typically 1 in 2,000 considered a dominant Cystic fibrosis disorder, but children with two (Caucasians) genes for achondroplasia have a severe skeletal disorder that 1 in 3,000 Tay-Sachs disease achondroplasics could be (American Jews) viewed as carriers of. Sickle- cell anemia is also considered a Phenylketonuria 1 in 12,000 recessive condition, but heterozygous carriers have Mucopolysaccharidoses 1 in 25,000 increased immunity to malaria in early childhood, which could Glycogen storage diseases 1 in 50,000 be described as a related [citation needed] dominant condition. Galactosemia -
Bibliography of Human Genetics*
BIBLIOGRAPHY OF HUMAN GENETICS* R. H. POST Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan Selections from the Current List of Medical Literature through February, 1959 and other sources 296. AGER, J. A., LEHMANN, H., & VELLA, F. 1958. Haemoglobin Norfolk: a new haemoglobin found in an English family with observations on the naming of new haemoglobin variants Brit. M. J. 5095: 539-541. 297. ALEXANDER, J. O., & GRANT, P. W. 1958. Monilethrix; report of three cases with family his- tory. Scot. M. J. 3(8): 356-360. 298. ALLAN, J. D., CUSWORTH, D. C., DENT, C. E., & WILSON, V. K. 1958. A disease, probably hereditary, characterized by severe mental deficiency and a constant gross abnormality of aminoacid metabolism. Lancet, Lond. 1(7013): 182-187. 299. ALLISON, A. C. 1958. The genetical and clinical significance of the haptoglobins. Proc. R. Soc. Ml., Lond. 51(8): 641-645. 300. ALLISON, A. C., & BLUMBERG, B. S. 1958. Familial osteoarthropathy of the fingers. J. Bonc Surg. Brit. VZol. 40-B(3): 538-545. 301. ALLORI, L., & VITAMIA, P. 1958. Osservazioni genetistiche su 44 casi di cardiopatie acquisite. [Genetic observations on 44 cases of acquired heart disease] Acta genet. med. gemellol., Roma 7(3): 397-410. 302. AMYOT, R. 1958. L'Audi-mutite; document clinique portant sur trios membres (lune meme fratrie. [Audimutitas; clinical observation on three members of the same family] Presse med. 66(56): 1289-1292. 303. ANASTASI, A. 1958. Heredity, environment, and the question how? Psychol. Rev. 65(4): 197-208. 304. ANDERSEN, J. 1958. Modifying influence of the secretor gene on the development of the ABH substance; a contribution to the conception of the Lewis group system.