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A potential protective mutation for a very severe, familial (PSEN1) form of #Alzheimers: the value of sequencing people of extreme phenotypes, resistant to penetrance
@NatureMedicine nature.com/articles/s4159… @ytquiroz @MGHmapp @MassGeneralNews and colleagues
@NatureMedicine @ytquiroz @MGHmapp @MassGeneralNews Very good explainer by @PamBelluck @NYTScience
nytimes.com/2019/11/04/hea…
@NatureMedicine @ytquiroz @MGHmapp @MassGeneralNews @PamBelluck @NYTScience Not many single patient case reports make it to the front page of the @nytimes. This one did because it could ultimately prove to be quite important in coming up with a prevention for this dreaded disease. #Alzheimers
@NatureMedicine @ytquiroz @MGHmapp @MassGeneralNews @PamBelluck @NYTScience @nytimes Very good summary @sciencemagazine of the findings, by @KellyServick
science.sciencemag.org/content/sci/36…
and new @medrxivpreprint on APOE2 protection
medrxiv.org/content/medrxi…
In 5 years, we will see this as a turning point for #Alzheimers or a failure to replicate?
I like to be optimistic
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Eric Topol
@EricTopol
As a father and grandfather, a remarkable (scary) report on #climatechange and the perils of health for our offspring thelancet.com/climate-and-he… @LancetCountdown
and how sickening to see the #US as such a negative outlier, emissions worse than any country per capita
@TheLancet
@LancetCountdown @TheLancet "The @guardian newspaper reported last week that two-thirds of people in the #UK now consider the #ClimateEmergency to be the biggest issue facing humankind." thelancet.com/journals/lance… @TheLancet
@LancetCountdown @TheLancet @guardian cover @TheLancet this week
Read 3 tweets
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Eric Topol
@EricTopol
The @Apple Heart smartwatch atrial fibrillation (AF) prospective trial of ~420,000 people enrolled in 8 months, w/ low #AI notification rate of possible AF (in 0.5%) and validation of signal via skin patch
nejm.org/doi/full/10.10…
@NEJM by @leftbundle @StanfordMed and colleagues
@Apple @NEJM @leftbundle @StanfordMed A previous pragmatic site-less clinical trial to detect atrial fibrillation using demographic data for potential risk instead of an all-comer design
jamanetwork.com/journals/jama/… @JAMA_current by @SteveSteinhubl @ScrippsRTI remotely enrolled participants with average age 74
@Apple @NEJM @leftbundle @StanfordMed @JAMA_current @SteveSteinhubl @ScrippsRTI It's good to get medical research at scale but "all comers" via iOS/iPhone leads to lack of diversity of participants, not representative of Americans nytimes.com/2019/11/14/tec… by @natashanyt w/@HarvardChanDean @HarvardChanSPH @ethanjweiss @UCSF
Read 3 tweets
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Eric Topol
@EricTopol
I wonder what Florence Nightingale would have said
wsj.com/articles/behin… by @realrobcopeland
cloud.google.com/blog/topics/in… @Ascensionorg @googlecloud
The balanced, factual @WIRED coverage on this project wired.com/story/google-i… by @GregoryJBarber @MeganMolteni
@WIRED @GregoryJBarber @MeganMolteni There's a lot of 👀@Google. But what about ~50 million patient health system: "It ..hopes to mine data to identify additional tests that could be necessary or other ways in which the system could generate more revenue from patients, documents show" from @WSJ @realrobcopeland
Read 4 tweets

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Allen Institute
@AllenInstitute
In a new study out in @nature, our researchers make a big step forward in our quest to map the brain. Study findings lay the groundwork to better understand brain disorders & diseases such as #Alzheimers and #schizophrenia.

alleninstitute.org/what-we-do/bra…
This new study describes a high-resolution expansion of our #openscience Allen Mouse Brain Connectivity Atlas-- the most detailed map of connections in a mammalian brain to date. Access via: connectivity.brain-map.org
Using a computational approach, our researchers found that different sections of the cortex and thalamus can be mapped into a hierarchy, much like a company’s org chart – although not all connections followed this hierarchical structure. #brainmapping
Read 5 tweets
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Dash Genomics
@DashGenomics
Wired article on the science behind @DashGenomics, the only Alzheimer's risk analysis on the Market based on DNA beyond APOE!
wired.com/story/polygeni…

Visit us bit.ly/DashWhy 👈
👆
#BeyondAPOE
#Alzheimers
#EndALZ
⚡️ Summary of the benefit and risk of hormone replacement therapy (HRT)
- research linked long-term use of HRT with a small increased risk of #Alzheimers
- taking HRT for a short period of time should be fine.

twitter.com/i/moments/1103… …

Learn Alz risk bit.ly/DashWhy
⚡️ “New Risk Genes for #Alzheimers”

Coverage and comment from media and scientists on newly discovered risk genes for Alzheimer's

twitter.com/i/moments/1101… …

Visit us at bit.ly/DashWhy 👈
and Learn personalized #Alzheimers risk #BeyondAPOE with your DNA
@DashGenomics
Read 26 tweets
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James Lingford
@JamesLingford
There is an amazing evolutionary biology paper out this week in Science:

DNA fragility in the parallel evolution of pelvic reduction in stickleback fish
science.sciencemag.org/content/363/64…

Let’s look at what they did.
First, what’s the big picture? Well, numerous species exhibit rapid & repeated bouts of adaptive evolution to new environments. Also, geographically isolated populations of the same species have shown the same phenotypic adaptations (parallel evolution)!
This is the case with stickleback fish, which has lost pelvic fins multiple times as marine populations adapt and colonize freshwater environments. Pelvic fins in marine sticklebacks are thought to deter predators. But in freshwater environments, fin building is too costly
Read 67 tweets
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🎄🔶🌸❄️Sakura To Yuki No Seirei❄️🌸🦋⚢⚧
@SakuraNoSeirei
So, I've waded through the Evangelical Alliance's new pastoral "guidelines" for interacting with trans people (ughh, the things I do to expose #transphobic #ciswits to the world), and let's just say it's time to tear this particular sh*t-bag a new hole.

1/n
CW: #Transphobia, #ConversionTherapy, #Zucker, #Religiously #driven #zealotry

2/n
So, straight off the bat, first page of text, the use of #language is . . . well, yeah, see for yourself:

"It is important to remember that transgender is not simply an issue to be debated;" - p5, #Transformed

*sigh*

When such language gets reinforced by insisting...

3/n
Read 176 tweets
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Isaac Kohane
@zakkohane
Why is this paper in @nature nature.com/articles/s4158… a surprising and exciting discovery about #Alzheimers? It's not just that they found new variants Alzheimer’s disease-related gene APP. CC @alzheimerssoc
It's not just that they realized that the new variants were being coded by DNA with unusual intragenic splices and not because of errors in splicing and that these variants found in sporadic #Alzheimers were similar to those found in Familial #Alzheimers. CC @alzassociation
It's not just that they realized that the DNA was not germline but genomic cDNA (gencDNA) & was most likely generated by reverse transcriptase, the same enzyme that lets #HIV take over human cells leading to #AIDS @ALZHEIMERSread
Read 5 tweets

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