Publications by authors named "Carol Isaacson Barash"

19 Publications

  • Page 1 of 1

Three Cases of Severe ME/CFS in Adults.

Healthcare (Basel) 2021 Feb 16;9(2). Epub 2021 Feb 16.

Massachusetts ME/CFS & FM Association, Quincy, MA 02269, USA.

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a complex, only partially understood multi-system disease whose onset and severity vary widely. Symptoms include overwhelming fatigue, post-exertional malaise, sleep disruptions, gastrointestinal issues, headaches, orthostatic intolerance, cognitive impairment, etc. ME/CFS is a physiological disease with an onset often triggered by a viral or bacterial infection, and sometimes by toxins. Some patients have a mild case and are able to function nearly on a par with healthy individuals, while others are moderately ill and still others are severely, or even, very severely ill. The cohort of moderately to very severely ill is often housebound or bedbound, has lost employment or career, and has engaged in a long, and often futile, search for treatment and relief. Here, we present three case studies, one each of a moderately ill, a severely ill, and a very severely ill person, to demonstrate the complexity of the disease, the suffering of these patients, and what health care providers can do to help.
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http://dx.doi.org/10.3390/healthcare9020215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7920463PMC
February 2021

Omics challenges and unmet translational needs.

Appl Transl Genom 2016 Sep 18;10. Epub 2016 Aug 18.

Principal, Helix Health Advisors, United States.

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http://dx.doi.org/10.1016/j.atg.2016.08.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5025469PMC
September 2016

Translating translational medicine into global health equity: What is needed?

Appl Transl Genom 2016 Jun 10;9:37-9. Epub 2016 Mar 10.

Helix Health Advisors, 317 Lamartine Street, Suite 200, Boston, MA, USA.

While genomics, and other omics, research is rapidly advancing in the US and Europe, progress has been slower in less resourced countries. The imbalance has given rise to concern about whether the benefits of these advances, namely new and better tests, treatments, risk identification, and prevention strategies, will be shared and available to those living in less resourced reaches of the globe. In effort to give voice to researchers, an informal survey about barriers to advancing translational medicine was administered to attendees of the 11th Asia Pacific Conference on Human Genetics, 2015, Hanoi. The overall goal of the survey was to identify unmet needs and rank their importance. Most attendees completed the survey. Not surprisingly funding is indicated as a major need. Respondents reported that lack of bioinformatics and computational tools, trained data scientists and access to datasets is creating a significant lag behind better resourced regions. Results are intended to inform efforts to create a regional consensus statement of need. Such a regional statement could help funding organizations and policy makers seeking to promote global genomics benefit sharing.
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http://dx.doi.org/10.1016/j.atg.2016.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4911426PMC
June 2016

Unsung heroes: Genomic successes in the developing world.

Appl Transl Genom 2016 Jun 17;9:1-2. Epub 2016 May 17.

Human Genetics Unit, Faculty of Medicine, Kynsey Road, Colombo 00800, Sri Lanka.

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http://dx.doi.org/10.1016/j.atg.2016.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4911427PMC
June 2016

Emerging Translational Research Methods: A Sampling.

Appl Transl Genom 2015 Dec 2;7. Epub 2015 Dec 2.

Helix Health Advisors, United States.

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http://dx.doi.org/10.1016/j.atg.2015.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803765PMC
December 2015

What is translational bioinformatics?

Appl Transl Genom 2015 Sep 28;6:1-2. Epub 2015 Aug 28.

Helix Health Advisors, United States.

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http://dx.doi.org/10.1016/j.atg.2015.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803779PMC
September 2015

Editorial.

Appl Transl Genom 2015 Mar 19;4:21-2. Epub 2015 Feb 19.

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http://dx.doi.org/10.1016/j.atg.2015.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745362PMC
March 2015

Special Issue - Pharmacogenomics & personalized medicine, Journal of Applied and Translational Genomics.

Appl Transl Genom 2013 Dec 6;2:1-2. Epub 2013 Nov 6.

Department of Immunology and Institute for Cellular and Molecular Medicine, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa.

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http://dx.doi.org/10.1016/j.atg.2013.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133335PMC
December 2013

How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.

Hum Mutat 2010 Dec;31(12):1374-81

Cancer Research Program, Garvan Institute of Medical Research, St. Vincent's Clinical School, University of NSW, Sydney, NSW, Australia.

The third Human Variome Project (HVP) Meeting "Integration and Implementation" was held under UNESCO Patronage in Paris, France, at the UNESCO Headquarters May 10-14, 2010. The major aims of the HVP are the collection, curation, and distribution of all human genetic variation affecting health. The HVP has drawn together disparate groups, by country, gene of interest, and expertise, who are working for the common good with the shared goal of pushing the boundaries of the human variome and collaborating to avoid unnecessary duplication. The meeting addressed the 12 key areas that form the current framework of HVP activities: Ethics; Nomenclature and Standards; Publication, Credit and Incentives; Data Collection from Clinics; Overall Data Integration and Access-Peripheral Systems/Software; Data Collection from Laboratories; Assessment of Pathogenicity; Country Specific Collection; Translation to Healthcare and Personalized Medicine; Data Transfer, Databasing, and Curation; Overall Data Integration and Access-Central Systems; and Funding Mechanisms and Sustainability. In addition, three societies that support the goals and the mission of HVP also held their own Workshops with the view to advance disease-specific variation data collection and utilization: the International Society for Gastrointestinal Hereditary Tumours, the Micronutrient Genomics Project, and the Neurogenetics Consortium.
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http://dx.doi.org/10.1002/humu.21379DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3119486PMC
December 2010

Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs).

Hum Mutat 2010 Nov;31(11):1179-84

Department of Genetics, Evolution and Environment, University College London, London, United Kingdom.

More than 1,000 Web-based locus-specific variation databases (LSDBs) are listed on the Website of the Human Genetic Variation Society (HGVS). These individual efforts, which often relate phenotype to genotype, are a valuable source of information for clinicians, patients, and their families, as well as for basic research. The initiators of the Human Variome Project recently recognized that having access to some of the immense resources of unpublished information already present in diagnostic laboratories would provide critical data to help manage genetic disorders. However, there are significant ethical issues involved in sharing these data worldwide. An international working group presents second-generation guidelines addressing ethical issues relating to the curation of human LSDBs that provide information via a Web-based interface. It is intended that these should help current and future curators and may also inform the future decisions of ethics committees and legislators. These guidelines have been reviewed by the Ethics Committee of the Human Genome Organization (HUGO).
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http://dx.doi.org/10.1002/humu.21339DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2992689PMC
November 2010

Planning the human variome project: the Spain report.

Hum Mutat 2009 Apr;30(4):496-510

Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA.

The remarkable progress in characterizing the human genome sequence, exemplified by the Human Genome Project and the HapMap Consortium, has led to the perception that knowledge and the tools (e.g., microarrays) are sufficient for many if not most biomedical research efforts. A large amount of data from diverse studies proves this perception inaccurate at best, and at worst, an impediment for further efforts to characterize the variation in the human genome. Because variation in genotype and environment are the fundamental basis to understand phenotypic variability and heritability at the population level, identifying the range of human genetic variation is crucial to the development of personalized nutrition and medicine. The Human Variome Project (HVP; http://www.humanvariomeproject.org/) was proposed initially to systematically collect mutations that cause human disease and create a cyber infrastructure to link locus specific databases (LSDB). We report here the discussions and recommendations from the 2008 HVP planning meeting held in San Feliu de Guixols, Spain, in May 2008.
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http://dx.doi.org/10.1002/humu.20972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5879779PMC
April 2009

Threats to privacy protection.

Science 2007 Nov;318(5852):913-4

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http://dx.doi.org/10.1126/science.318.5852.913cDOI Listing
November 2007
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