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Crossroads:

🛣A #crossroads moment begins with the realization that you have no particular place to go

🛣It represents the #end of a journey, along with the mourning that accompanies loss

🛣And the start of a new journey, with all its frightening uncertainty and tentative hope

Relatives do not act quickly on #genetictesting even after learning about a family member’s pathogenic cancer variant https://go.nature.com/2TtF1ZM @EMBOSU #hereditarycancer #genetics #geneticcounseling #healthbehavior #GCChat

For more than half a century, scientists have known the cause of sickle cell disease, a single mutation in a gene. Millions of people are affected globally, a vast majority of them Africans. Has gene therapy finally arrived? @ginakolata in @nytimes https://www.nytimes.com/2020/01/11/health/sickle-cell-disease-cure.html?searchResultPosition=1

T-Cell Immunotherapy Pioneer Seeks New Direction for Solid Tumors
http://ow.ly/KlGE50xSLSP

Genetic testing as a frontline diagnostic tool for infants and children with inherited eye disorders https://go.nature.com/36HK6S9 #genetics #genetictesting

https://www.nature.com/articles/s41436-019-0731-7

Our review of recent past & near future of human disease genetics (1990-2030) has just been published in Nature (https://www.nature.com/articles/s41586-019-1879-7). Thanks to co-authors too numerous to list, & to @obahcall et al at Nature (including the reviewers) for pulling this together. #humgen25 1/n

Researchers @scrippsresearch developed a molecular switch for gene therapies that would allow us to suppress gene expression and then increase it over time using @US_FDA approved “morpholinos.” This could help us use gene therapy more broadly. #NIH-funded https://bit.ly/2SLj9c6

Progress isn’t always easy to see. These charts show some of the ways that the world is getting better. https://b-gat.es/2SPNuWR

Should we sequence the genome of every newborn? “Thankfully we have a model for how to do this: newborn screening programs such as those run by state health departments.” Informative blog via @sciam https://blogs.scientificamerican.com/observations/should-we-sequence-the-genome-of-every-newborn/

It is painful to admit, but important to do so. I apologize to all. I was a bit busy when this was submitted, and did not do my job well. https://twitter.com/francesarnold/status/1212796190711959552

AI 'outperforms' doctors diagnosing breast cancer
https://www.nature.com/articles/s41586-019-1799-6

In 2019, polygenic risk scores for common complex disease are still not part of routine clinical care and will need to be extensively validated in clinical and population studies. Via @JAMA_current https://jamanetwork.com/journals/jama/fullarticle/2730627

https://jamesclear.com/why-facts-dont-change-minds

There was practically no connection between parenting style and children's personality traits.
https://www.ideals.illinois.edu/bitstream/handle/2142/105686/AYOUB-DISSERTATION-2019.pdf?sequence=1&isAllowed=y

https://www.nature.com/articles/s41467-019-13848-1

GeVIR is a continuous gene-level metric that uses variant distribution patterns to prioritize disease candidate genes (Abramovs et al.) https://go.nature.com/35R2xmZ

Rapid exome sequencing of #newborns in #NICU aided by providing phenotype information to the laboratory can quickly diagnose genetic disease, improving treatment and giving parents answers in many cases https://go.nature.com/35QUhTL

Can quantification of sperm mosaicism in the father help assess autism risk in offspring? Intriguing findings via @NatureMedicine https://www.nature.com/articles/s41591-019-0711-0

4

A ‘faulty’ gene can result in different outcomes for different people - but why? http://socsi.in/H2Xj9 #genetics #genomics #penetrance #expressivity

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