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@Primary_Immune 2 years ago
There are almost 5⃣0⃣0⃣ "Inborn Errors of Immunity" in medical literature 🧬IL-10R deficiency is but one of them https://onlinelibrary.wiley.com/doi/10.1111/apt.16837 #bioinformatics #openscience #scicomm #snrtg #rstats #bigdata #immunology #genomics #raredisease https://t.co/DDEEEDfVNF
@Primary_Immune 3 years ago
Yet another "punch-to-the-gut" example of injustice, inequity, poorer outcomes, and institutional-wide racial disparities in Medicine and healthcare https://twitter.com/LancetChildAdol/status/1338628586769686528?ref_src=twsrc%5Etfw #linux #rstats #datascience #openscience #sepsis #healthcare
@Primary_Immune 3 years ago
🧬 A nice update on gene therapy '2.0' ...like the ring of "genes as medicines" :-) https://www.nature.com/articles/s41467-020-19507-0 #openscience #datascience #bigdata #rstats #technology #biotech #itrtg #genomics #raredisease https://t.co/EMUZn1AXBO
@Primary_Immune 3 years ago
🧬 The amazing marriage of #genomics & #immunology Almost 4⃣5⃣0⃣ distinct #PrimaryImmunodeficiency disorders described in medical literature...and counting https://www.sciencedirect.com/science/article/pii/S0021755720302187 #rstats #openscience #datascience #bioinformatics #technology #snrtg #raredisease https://t.co/g4gNSNO37B
@Primary_Immune 3 years ago
🧬 A beautiful, recent genomic sequencing study in a "medically-complex" cohort of 138 pediatric patients - novel variants - ultra-rare DXs - 31% diagnostic yield (!) https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2770753 #snrtg #rstats #bioinformatics #openscience #datascience #genomics #raredisease https://t.co/x6ppeM7GRo
@Primary_Immune 3 years ago
A mysterious infectious disease leading to deadly swelling of the brain Now medical detectives have their pathogen _News: https://www.publichealth.columbia.edu/public-health-now/news/scientists-discover-bacterium-linked-deadly-childhood-disorder #openscience #rstats #datascience #itrtg _Journal: https://stm.sciencemag.org/content/12/563/eaba0565 #immunology #bioinformatics #genomics #raredisease https://t.co/2dG70igHwZ
@Primary_Immune 3 years ago
The 3⃣1⃣st case in medical literature of #COVID19/#SARSCoV2 in a patient with a #PrimaryImmunodeficiency disorder 15 year-old Spanish girl with "CTLA4" deficiency -survived https://link.springer.com/article/10.1007%2Fs00431-020-03793-3 #openscience #codingnewbie #rstats #bigdata #immunology #raredisease #openscience https://t.co/Mo4y3Ucb5B
@Primary_Immune 3 years ago
A new immuno-genomic variant enters medical literature... ...and life and death hanging in the balance for rare #PrimaryImmunodeficiency patients https://onlinelibrary.wiley.com/doi/abs/10.1111/petr.13808 #rstats #datascience #openscience #bigdata #immunology #genomics #raredisease https://t.co/U4by2LYNE4
@Primary_Immune 3 years ago
Just found the 2⃣4⃣th case in medical literature of a #PrimaryImmunodeficiency + #COVID19 patient happily shocked that this immunodeficient patient was asymptomatic https://www.researchsquare.com/article/rs-57542/v1 #iot #serverless #openscience #itrtg #rstats #datascience #immunology #raredisease https://t.co/wW8c4PeLrl
@Primary_Immune 3 years ago
The 1⃣1⃣th case of a Primary Immunodeficiency patient with COVID-19 to enter medical literature - good news: recovered + discharged https://www.researchsquare.com/article/rs-28155/v1 #serverless #iot #rstats #meded #openscience #snrtg #bigdata #covid19 #immunology #PrimaryImmunodeficiency #RareDisease https://t.co/dsRCMJDXVI
@Primary_Immune 3 years ago
It's not every day that a newly-identified immune cell is described ...a viral respiratory-infection-fighter enters medical literature _News: https://www.sciencedaily.com/releases/2020/05/200508155915.htm #itrtg #openscience #rstats #virology #scicomm #bigdata _Journal: https://www.sciencedirect.com/science/article/pii/S1074761320301631 #immunology #genomics https://t.co/mipvH0TaUS
@Primary_Immune 4 years ago
2019 - The Year of the "Cell-Atlas" Projects -Massive cellular, molecular, and genomic 'GPS-systems' of the human body -my choice for the top Genetic Medicine story of the year #linux #iot #rstats #snrtg #bigdata #Meded #scicomm #openscience #technology #genomics #rarediseases https://t.co/INZp0YqoIQ
@Primary_Immune 4 years ago
Rare disease relevance and beyond in an insightful year-in-review genomics piece - "Research into genomic medicine implementation is moving forward briskly..." https://www.cell.com/ajhg/fulltext/S0002-9297(19)30427-6 #serverless #iot #SciComm #rstats #MedEd #OpenScience #ITRTG #BigData #genomics #RareDisease https://t.co/BqNp6jd2ki