The latest tweets from .Dr Ghaffari are shown in this feed


🛣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 @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

T-Cell Immunotherapy Pioneer Seeks New Direction for Solid Tumors

Genetic testing as a frontline diagnostic tool for infants and children with inherited eye disorders #genetics #genetictesting

Our review of recent past & near future of human disease genetics (1990-2030) has just been published in Nature ( 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

Progress isn’t always easy to see. These charts show some of the ways that the world is getting better.

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

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.

AI 'outperforms' doctors diagnosing breast cancer

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

There was practically no connection between parenting style and children's personality traits.

GeVIR is a continuous gene-level metric that uses variant distribution patterns to prioritize disease candidate genes (Abramovs et al.)

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

Can quantification of sperm mosaicism in the father help assess autism risk in offspring? Intriguing findings via @NatureMedicine


A ‘faulty’ gene can result in different outcomes for different people - but why? #genetics #genomics #penetrance #expressivity

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