Elizabeth Barrie
@Beth_Barrie
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Molecular Diagnostics and Cytogenetics Laboratory Director, all opinions are my own
Virginia, USA
Joined August 2017
Ask Congress to Support Federal Funding for Newborn Screening
votervoice.net
Recent federal government actions – such as funding cuts, termination of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), and government restructuring proposals – risk...
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A two-and-a-half-year-old girl shows no signs of a rare genetic disorder, after becoming the first person to be treated for the motor-neuron condition while in the womb. https://t.co/gNlSXnkFGn
nature.com
Nature - The child, who is now almost three years old, shows no signs of the often fatal motor neuron disease.
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#Photos: #Billsmafia routs the 49ers in a snowglobe 35-10 https://t.co/xfT5f1mA6H
@TBNSports @TheBuffaloNews @kfitz134 @ryanohalloran @gggaughan @JaySkurski
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Experimental drug showing effects for patients with Fragile X syndrome
npr.org
For 22 years, Jason Mazzola's life was defined by a genetic condition that can cause autism and intellectual disability. Then he started taking an experimental drug.
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Leonard Hayflick, Who Discovered Why No One Lives Forever, Dies at 96 - The New York Times
nytimes.com
A biomedical researcher, he found that normal cells can divide only a certain number of times before they age — which, he said, explained aging on a cellular level.
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#GeneChat Still confused on what the CPT code change means for #geneticcounselors? One major (and exciting) change is that it expands the role of the genetic counselor. #genechat #precisionmedicine
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Colin Farrell Starts Foundation in Honor of Son, Who Has Angelman Syndrome
people.com
Colin Farrell is launching a foundation in honor of his 20-year-old son who has Angelman syndrome. The actor opens up to PEOPLE about their life together, saying he thinks his son James is "magic."
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What Kamala Harris’s historic bid for the US presidency means for science
nature.com
Nature - The daughter of a scientist and a supporter of diversity in STEM, Harris as a potential candidate has stirred optimism among scientists.
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What it’s like to be in healthcare right now: “We will pay you $2 for that pie” “But it costs me $4 in pie ingredients and $2 in human labor to make a pie. We need $6 to break even” “Sorry, we’ll only pay you $2 for that pie. We suggest you make many more pies that you also
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In this #AMPtutorials, we will discuss a very important topic in the practice of routine molecular diagnostics: microsatellite instability (MSI) and deficient mismatch repair (dMMR) testing. (Thread 🧵1/11). Disclaimer: This educational resource does not constitute medical or
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Ask your Senators and Representatives to support the Congressional Review Act to oppose the FDA's Final Rule (and support laboratory testing). https://t.co/MBfNnVzut8 #
congressweb.com
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Guidance on data collection in genomics research regarding sex and gender “… ways that clinicians and researchers can-and should-harness the scientific, social, and cultural power of genomics …”
pubmed.ncbi.nlm.nih.gov
Over the past century, genetics and genomics ("genomics") have contributed significantly to our knowledge of human biology and disease. Genomics has also bolstered inaccurate and harmful arguments...
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PGED raises awareness and inspires curiosity, dialogue, and reflection about genetics. Another resource for genetics education
pged.org
Personal Genetics Education & Dialogue (PGED) offers insights into DNA, genetics and resources for a deeper understanding of personal genetics.
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A platform to enhance the production, sharing, and use of scholarship on the Ethical, Legal, and Social Implications of genetics and genomics. A resource for enhancing bioethics education.
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Great talk by @daphmarts on student desire for more bioethics education. In addition to legal coverage also want the other part of ELSI - how to conduct research in an ethically and socially responsible way. Link to publication
biorxiv.org
Despite the profound impacts of scientific research, few scientists have received the necessary training to productively discuss the ethical and societal implications of their work. To address this...
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I’ll be running the Monument Ave 10k next week. You join me in supporting the Massey Cancer Center at VCU (Virginia Commonwealth University) by donating here: https://t.co/Th08hqR9AN. Thank you!
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Somatic variants starting to be deposited in clinvar. Won’t be reporting conflicts in interpretation since can be diff tiers in diff tissues. Submitted classification should be for certain tissue and also if tier is based on prognosis, dx or tx #ACMGMtg24
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Link to join ClinGen somatic effort https://t.co/U7Mo1onSIZ
#ACMGMtg24
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