@Primary_Immune 7 days 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 18 days ago
A brand-new #PrimaryImmunodeficiency disorder enters medical literature *Phenotype: Natural Killer cells + CVID + autoimmunity https://bit.ly/3mORGBY #rstats #snrtg #autoimmune #datascience #scicomm #bioinformatics #immunology #genomics #raredisease https://t.co/WZCL8YqKHp
@Primary_Immune 20 days 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 1 month ago
🧬 A never-before described #PrimaryImmunodeficiency causative mutation enters medical literature ...a magnificent walk-through of how it was accomplished https://www.karger.com/Article/Abstract/510062 #rstats #python #datascience #itrtg #immunology #genomics #bioinformatics #raredisease https://t.co/MBNdCxT5eL
@Primary_Immune 1 month ago
🧬 A never-before-seen #PrimaryImmunodeficiency mutation enters medical literature ...an elusive diagnosis for a sick Turkish girl https://link.springer.com/article/10.1007/s10875-020-00889-1 #openscience #technology #bigdata #bioinformatics #itrtg #immunology #genomics #raredisease https://t.co/xkuZBhmUtI
@Primary_Immune 1 month ago
Immunology matters Genomics matters Medical science Matters Rare Disease research matters LIFE MATTERS https://bit.ly/376ILqO #openscience #itrtg #scicomm #epilepsy #genomics #bioinformatics #DataScience #RareDisease #immunology https://t.co/eKZZijkPas
@Primary_Immune 1 month 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 1 month 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 2 months 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 2 months ago
🧬 A beautiful example of the power of #Genomics... 1⃣ A child with a rare #autoimmune disorder finally gets the CORRECT diagnosis 2⃣ a novel mutation enters medical literature https://ard.bmj.com/content/annrheumdis/early/2020/08/30/annrheumdis-2020-218422.full.pdf #iot #openscience #snrtg #bigdata #immunology #bioinformatics #raredisease https://t.co/MvMmmmae8Q
@Primary_Immune 2 months ago
. Dysfunctional "natural-killer" cells ...as a newly-identified #PrimaryImmunodeficiency disorder enters medical literature https://www.jci.org/articles/view/134966/pdf #bioinformatics; single cell #technology #iot #genomics #snrtg #bigdata #immunology #raredisease https://t.co/efQi6TB7ZN
@Primary_Immune 3 months ago
. An elusive genomic diagnosis for two very sick kids ...as a newly-identified #PrimaryImmunodeficiency disorder enters medical literature https://rupress.org/jem/article/217/12/e20192275/152004/NCKAP1L-defects-lead-to-a-novel-syndrome-combining?searchresult=1 #iot #rstats #snrtg #autoimmune #technology #datascience #immunology #genomics #raredisease https://t.co/p4GG22aAMJ
@Primary_Immune 3 months 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 months 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 months ago
. Pandemic-era, non-COVID-19 immunological research and discovery roll on... ...as the newest #PrimaryImmunodeficiency disorder enters medical literature https://rupress.org/jem/article/217/12/e20192275/152004/NCKAP1L-defects-lead-to-a-novel-syndrome-combining?searchresult=1 #serverless #WomenInSTEM #openscience #bigdata #iot #itrtg #immunology #genomics #raredisease https://t.co/8f2dy3SIRZ
@Primary_Immune 3 months ago
Decoding the rarest of rare immune disorders ...another #PrimaryImmunodeficiency disorder enters medical literature https://dm5migu4zj3pb.cloudfront.net/manuscripts/98000/98882/cache/98882.1-20200801134354-covered-253bed37ca4c1ab43d105aefdf7b5536.pdf #openscience #WomenInSTEM #bigdata #DataScience #iot #snrtg #Immunology #genomics #raredisease https://t.co/s0BsroPerJ
@Primary_Immune 4 months ago
Some intriguing examples of a targeted, precision medicine approach in the treatment of #PrimaryImmunodeficiency disorders https://www.sciencedirect.com/science/article/abs/pii/S0889856120300217 #openscience #bigdata #WomenInSTEM #iot #itrtg #immunology #genomics #raredisease https://t.co/sfMfR8kr2u
@Primary_Immune 4 months ago
. "Med Ed" in Immunology The case for case-reports to enhance knowledge and curiosity in MDs and medical students 🧬especially cases of #RareDisease patients :-) https://www.frontiersin.org/articles/10.3389/fimmu.2020.01756/abstract #iot #itrtg #MedEd #openscience #bigdata #immunology #PrimaryImmunodeficiency #genomics https://t.co/mJnv7iAwxV
@Primary_Immune 5 months ago
there are ...more than 4⃣3⃣0⃣ distinct #PrimaryImmunodeficiency disorders in medical literature -most affect children ...a new case study brings a rare diagnosis https://assets.researchsquare.com/files/rs-33775/v1/f6ef90c9-9876-4db2-ba9a-6892c61df06e.pdf #iot #snrtg #WomenInSTEM #openscience #bigdata #technology #immunology #genomics #raredisease https://t.co/MecE6GWBLy
@Primary_Immune 5 months ago
Case number 12 of a #PrimaryImmunodeficiency patient infected with #COVID19 enters medical literature https://onlinelibrary.wiley.com/doi/full/10.1002/pbc.28382 #serverless #iot #itrtg #openscience #meded #WomenInStem #bigdata #immunology #SARS_CoV_2 #raredisease https://t.co/XOYN6uJWxn
@Primary_Immune 6 months 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 6 months ago
The 8th #PrimaryImmunodeficiency patient infected with #COVID19 in medical literature - insightful clinical details ...heartening news - recovered + discharged https://www.annallergy.org/article/S1081-1206(20)30314-8/pdf #serverless #iot #bigdata #snrtg #meded #openscience #Covid_19 #immunology #CVID #RareDisease https://t.co/taKZX8uNEh
@Primary_Immune 6 months ago
A table summary of: -Dx and symptoms -Rx/Tx protocols -mortality vs survival of the 7 latest #PrimaryImmunodeficiency patients with COVID-19 in medical literature (from last article in tweet thread #iot #rstats #linux #bigdata #Covid_19 #covid19 #immunology #raredisease https://t.co/6elVJSYxeJ
@Primary_Immune 6 months ago
Thread UPDATE: 7 additional #PrimaryImmunodeficiency patients diagnosed with #COVID19 described in medical literature *The paper ➡️ https://www.sciencedirect.com/science/article/pii/S0091674920305571 #linux #technology #iot #rstats #COVID__19 #bigdata #immunology #CVID #raredisease https://t.co/fFyZQVqWOC
@Primary_Immune 6 months ago
A malady plaguing a single family for four generations ...a new genetic disorder enters medical literature _News: https://www.charite.de/en/service/press_reports/artikel/detail/cold_induced_urticarial_rash_researchers_discover_new_hereditary_disease/ #serverless #iot #openscience #technology #snrtg #bigdata _Journal: https://www.nature.com/articles/s41467-019-13984-8 #autoimmune #immunology #genomics #raredisease https://t.co/0QAOEpfpy4
@Primary_Immune 6 months ago
EUREKA❗️ - always an occasion when never before identified immune-cells enter medical literature... _News: https://medicalxpress.com/news/2020-04-immune-cell-breast-ducts.html #rstats #linux #bigdata #snrtg #iot #scicomm _Journal: https://www.nature.com/articles/s41556-020-0505-0 #breastcancer #microscopy #immunology #genomics #RareDisease https://t.co/itB975CFwZ
@Primary_Immune 7 months ago
A pretty good week for #PrimaryImmunodeficiency research - genomic science solves a decades-long medical mystery - a never before identified STAT1 mutation decoded https://www.frontiersin.org/articles/10.3389/fimmu.2020.00967/abstract #scicomm #iot #rstats #bigdata #genomics #immunology #raredisease https://t.co/7RFDy5m8lP
@Sri_Baqri 7 months ago
A new @CellCellPress Special Review issue on #Therapeutics: #Cancer, #autoimmune #disease, #vaccines, #RareDisease #MachineLearning and #medicine, #CRISPR #AAV, #pharma #neurodegeneration - its all @ http://bit.ly/2V9mLV1 https://t.co/TXz3prO4yu
@Primary_Immune 8 months ago
Genomic screening of pediatric #sepsis patients in the search for underlying #PrimaryImmunodeficiency disorders ...intriguing immunological / medical detectivism https://academic.oup.com/cid/advance-article/doi/10.1093/cid/ciaa290/5809292 #linux #rstats #technology #snrtg #iot #bigdata #hematology #immunology #genomics #raredisease https://t.co/zq5SiF7SpV
@Primary_Immune 8 months ago
Exised tonsils are generally treated as medical waste ...They could provide a new boon for immunological research 1⃣ https://healthcare-in-europe.com/en/news/using-tonsils-as-an-immune-testbed.html #serverless #iot #bigdata #snrtg #meded #scicomm 2⃣ https://thelancet.com/journals/ebiom/article/PIIS2352-3964(20)30059-1/fulltext #PrimaryImmunodeficiency #immunology #genomics #raredisease https://t.co/is4WPA2De9
@Primary_Immune 8 months ago
Removed tonsils are generally treated as medical waste ...turns out they're a rich source of experimental immune cells _News https://healthcare-in-europe.com/en/news/using-tonsils-as-an-immune-testbed.html #serverless #iot #bigdata #snrtg #meded #scicomm _Journal https://www.thelancet.com/journals/ebiom/article/PIIS2352-3964(20)30059-1/fulltext #autoimmune #immunology #genomics #raredisease https://t.co/3Ewy4IlDzl
@Primary_Immune 10 months ago
The "genomic autopsy" - a sad, though invaluable use of DNA science helps to solve a long-standing medical mystery _News: https://www.inquirer.com/health/amish-deaths-sudden-cardiac-arrest-genetic-20200123.html #serverless #iot #meded #snrtg #scicomm #technology #bigdata _Journal: https://jamanetwork.com/journals/jamacardiology/article-abstract/2758306 #cardiology #genomics #RareDisease https://t.co/ZEJqJiNxXP
@Primary_Immune 10 months ago
A tragic medical mystery solved... -the power and transformational potential of the "genomic autopsy" demonstrated _News: https://edition.cnn.com/2020/01/16/health/amish-children-sudden-deaths-mystery-trnd/index.html #iot #bigdata #itrtg #technology #meded #scicomm _Journal: https://jamanetwork.com/journals/jamacardiology/article-abstract/2758306 #cardiology #genomics #RareDisease https://t.co/OC0oYgVNkT
@Primary_Immune 10 months ago
Forget the term 'Big Data' when it comes to Medicine and healthcare... ...It's absolutely 'ENORMOUS Data,' and it's getting more so all of the time... https://www.nature.com/articles/s41591-019-0703-0.pdf #serverless #snrtg #iot #bigdata #meded #technology #scicomm #genomics #rarediseases #raredisease https://t.co/BJNCHi1nuH
@Primary_Immune 10 months ago
The very first Primary Immunodeficiency causative mutation of 2020 (and the new decade) enters medical literature - "CARD11" mutation implicated in 'BENTA' disorder https://link.springer.com/article/10.1007/s10875-019-00729-x #serverless #technology #iot #bigdata #snrtg #rstats #Meded #genomics #RareDisease https://t.co/HykfIUbqcy
@Primary_Immune 10 months ago
Nice to see the very 1st in-print mention in a medical journal that the number of known #PrimaryImmunodeficiency disorders has surpassed 4⃣0⃣0⃣ -though speculated for months, I'll take this as official confirmation #iot #rstats #itrtg #Bigdata #genomics #immunology #raredisease https://t.co/srT9wYbOeu
@Primary_Immune 11 months ago
Every new rare genetic disorder identified... ...a fascinating story of medical detectivism and detectives _News: https://www.newswise.com//articles/the-rare-genetic-disorder-identified-in-only-three-people-worldwide #serverless #IoT #snrtg #brain #BigData _Journal: https://www.nature.com/articles/s41525-019-0103-x #SciComm #genomics #WomenInSTEM #epilepsy #RareDisease https://t.co/zva7xDNVkz
@Primary_Immune 11 months ago
CRIA syndrome🧬 -Always great to see a new genetic disorder in medical literature -Especially when it's immunological _News: https://www.wehi.edu.au/news/international-team-discovers-new-human-autoinflammatory-disease #serverless #rstats #SNRTG #autoimmune _Journal: https://www.nature.com/articles/s41586-019-1828-5 #BigData #IoT #sciComm #immunology #genomics #RareDisease https://t.co/Dxv2PiacGL
@Primary_Immune 11 months 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
@Primary_Immune 1 year ago
INCREDIBLE. Genomics solves a medical mystery dating all the way back to 1968! -An extremely long "diagnostic odyssey" ended thanks to modern DNA science https://uchicagomedicine.org/forefront/gastrointestinal-articles/2019/october/gene-discovery-solves-51-year-old-mystery-cause-of-inherited-pancreatitis #SciComm #SNRTG #MedEd #technology #genomics #genetics #RareDisease #OpenScience #STEM #BigData #IoT https://t.co/MPzcy0YtWD
@Primary_Immune 1 year ago
A brand new #PrimaryImmunodeficiency disorder enters medical literature -At least 15 new "PI" disorders IDd in 2019 thus far >350 PI disorders IDd overall https://www.sciencedirect.com/science/article/abs/pii/S0091674919313223#undfig1 #MedEd #OpenScience #SNRTG #SciComm #technology #immunology #genomics #RareDisease #BigData #IoT https://t.co/h5eNZqGbZ8
@Primary_Immune 1 year ago
Passing the blood-#brain barrier could allow Rx of a myriad of diseases -Scientists believe they have cracked one of Medicine's most difficult challenges https://www.ncl.ac.uk/press/articles/latest/2019/10/blood-brain-barrier/ #Scicomm #OpenScience #technology #biotech #SNRTG #neurology #neuroscience #RareDisease #BigData #IoT https://t.co/y77hbmOExP
@Primary_Immune 1 year ago
A new #PrimaryImmunodeficiency disorder enters medical literature -brings new insight into cell metabolism & inflammatory processes #MedEd #immunology News: https://www.sciencedaily.com/releases/2019/09/190916114022.htm #SciComm #technology #SNRTG -Journal: https://www.nature.com/articles/s41590-019-0482-2 #genomics #RareDisease #BigData #IoT https://t.co/SXYM7tmlsQ
@Primary_Immune 1 year ago
Some are calling it a "cure," ALL agree it's a HUGE scientific and medical breakthrough... ...headline takes on this week's Ebola news: https://www.theverge.com/2019/8/15/20806246/ebola-cure-outbreak-drug-development-congo-clinical-trial #MedEd #OpenScience #SciComm #technology #PublicHealth #immunology #RareDisease #snRTG #BigData #IoT https://t.co/GSOfZdAMBQ
@Primary_Immune 1 year ago
ICYMI - "AFM," a rare polio-like, paralyzing illness has been one of the biggest medical mysteries of this decade. -Today, a likely culprit identified - https://mbio.asm.org/content/mbio/10/4/e01903-19.full.pdf #ITRTG #GlobalHealth #PublicHealth #genomics #MedEd #SciComm #InfectiousDiseases #RareDisease #BigData https://t.co/WVeLkl6J3W
@twittmanda 1 year ago
MISSING Yoni AGAIN!!! @TwitterSupport @Twitter We need the medical/research info that @ primary_immune tweets!PLEASE fix so he's not marked as spam or a bot! #bigData #technology #MedEd #gaming #SciComm #chemistry #biochemistry #CitizenScience #genomics #mathematics #RareDisease https://t.co/kdx4ewJQMI
@Primary_Immune 1 year ago
When it comes to solving some of medical science's biggest questions, researchers are turning to #VideoGames and #gamers https://news.stanford.edu/2019/07/21/contributing-science-games/ #bigData #technology #MedEd #gaming #SciComm #chemistry #biochemistry #CitizenScience #genomics #mathematics #RareDisease #ioT https://t.co/2JfCPTuIyW
@Primary_Immune 1 year ago
Publicly acknowledging and thanking participants in medical research should be the norm https://twitter.com/PGCgenetics/status/1150789257503629312 #MedEd #OpenScience #SciComm #BigData #genomics #RareDisease #PatientsIncluded