One of the most devastating and heart-wrenching of the
~7,000 known rare diseases
A novel mutation🧬identified in
*⃣ "Epidermolysis Bullosa"*⃣
bmcmedgenomics.biomedcentral.com/articles/10.11… #bioinformatics #openscience #100daysofcode #snrtg #genomics #raredisease
Young patients with Epidermolysis Bullosa are known as
"Butterfly Children"
A novel gene therapy has shown dramatic and promising results for some of them:
science.org/content/articl… #openscience #biotech #scicomm
Epidemolysis Bullosa: frequently referred to as
'The worst disease you've never heard of'
chron.com/life/health/ar… #openscience #raredisease #scicomm
Lower-Leg Amputation in a Patient with Epidermolysis Bullosa: A Case Report amjcaserep.com/abstract/index…

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More from @Primary_Immune

Jun 20
. 🧬Exciting stuff! 🧬
Hope of a genetic-"fix" for youngsters with a rare blood disorder
newscientist.com/article/232451… #bioinformatics #snrtg #scicomm #openscience #technology #biotech #genomics #raredisease Image
The clinical trial results which prompted extending CRISPR treatment to kids for
🧬 Sickle-cell and Beta-Thalassemia🩸
bit.ly/3n4MwUO #openscience #scicomm Image
🧵(thread 3/3)
...more 🧬✂️DNA-editing hope:
1⃣ Inborn Errors of Immunity : frontiersin.org/articles/10.33… #bioinformatics #biotech #WomenInSTEM #openscience #scicomm
2⃣ 'CF', ... 🫁 ➕: frontiersin.org/articles/10.33… #immunology #genomics #raredisease Image
Read 4 tweets
Jun 20
My country 🇮🇱:
in new full-blown #COVID19 🦠wave
⚠️New cases up 7⃣0⃣0⃣% in past 3 weeks
hospitalizations up 90%; positivity rate: 39%
datadashboard.health.gov.il/COVID-19/gener… #openscience #scicomm #snrtg Image
🇮🇱 COVID-19🦠:
Just In ⚠️
Our Health Ministry has instructed
Israeli hospitals to re-open shuttered COVID wards.
#CovidIsNotOver
🇮🇱🦠A vote to reinstate
indoor masking 😷mandate
could come as early as tomorrow (Tuesday) morning.
Read 4 tweets
Jun 19
. 🦠#COVID19 ⚠️F*CKing⚠️with the
brain🧠and body
of this 15 year-old boy. Real badly.
onlinelibrary.wiley.com/doi/10.1002/cc… #WomenInSTEM #openscience #scicomm #snrtg #immunology #neurology
COVID-19 is NOT "just like the flu."
COVID-19 is NOT "just like the flu."
COVID-19 is NOT "just like the flu."
"Cerebellar examination revealed impaired finger to nose, heel to shin, and rapid alternative movements. Gait was ataxic and he could not walk without help."
* in a previously healthy young man
Read 5 tweets
Jun 19
. 🦠COVID is not over ❗️
⬆️Big recent increases here in my country 🇮🇱 ; a fresh new wave.
1⃣new cases: gov.il/en/departments… 2⃣hospitalizations: timesofisrael.com/israel-sees-sh… #COVID19 #openscience #rstats #serverless #snrtg #Israel Image
I was not expecting a new COVID wave until at least Autumn. I was wrong.
🦠SarsCov2 is unpredictable. It does not abide by seasons.
The figure of new cases could be a vast underestimation:
"Israel's Covid czar: Likely up to 20,000 cases
every day in current outbreak"
i24news.tv/en/news/corona… #scicomm #COVID19 #Israel #openscience
Read 5 tweets
Jun 18
⚠️Potentially dangerous
new 🦠#COVID19 variants🧬
▪️The pandemic won't end until we prevent this phenomenon
❗️Get💉 vaxxed to shield & protect the immunocompromised
ijidonline.com/article/S1201-… #bioinformatics #WomenInSTEM #openscience #snrtg #immunology #genomics #raredisease
. "NOBODY is safe from the virus until
we are ALL safe from the virus"
~Dr. Tedros Ghebreyesus (WHO Director General)
Viruses🦠do strange things when unchallenged for long periods of times in hosts.
Unfortunately mutating🧬is one of those things.
Read 8 tweets
Jun 17
Socialized Medicine:
Today I ended a week a of I.V.💉antibiotic Rx for a severe 🦠infection.
The Rx was at my home🏠by an MD & nurse. Due to my immunodeficiency my HMO didn't want me in a potentially-dangerous hospital setting.
Today I got the bill: 380 shekel (🇮🇱)
~90 US💲
"Socialized Medicine" gets a bad-rap by many.
To me it means kind, compassionate, expert care that is inexpensive and affordable.
The ~$90 included lab-workup, the I.V. antibiotics, and the at-home infusions themselves.
Read 5 tweets

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