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@Primary_Immune 1 year ago
🆕COVID-19 🦠in a large cohort of "Inborn Errors of Immunity" / Primary Immunodeficiency patients. - via NYC's Mount Sinai Medical Center 3% overall fatality-rate https://www.frontiersin.org/articles/10.3389/fimmu.2022.1035571/full #bioinformatics #scicomm #openscience #snrtg #datascience #iot #raredisease #immunology https://t.co/pq26puUWOM
@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 2 years ago
🧬A newly-described 'Inborn Error of Immunity' / Primary Immunodeficiency enters medical literature "a novel disorder of dendritic cells & monocytes" https://www.jimmunol.org/content/207/10/2423 #bioinformatics #100daysofcode #bigdata #mednews #itrtg #openscience #immunology #genomics #raredisease https://t.co/yq9u6M0NjN
@Primary_Immune 2 years ago
A newly-described Primary Immunodeficiency / 'Inborn Error of Immunity' enters medical literature "a novel disorder of dendritic cells and monocytes" https://bit.ly/3wQy8mQ #bioinformatics #100daysofcode #bigdata #mednews #snrtg #openscience #immunology #genomics #raredisease https://t.co/Hhw82BROCN
@Primary_Immune 2 years ago
A "Bubble-Baby" diagnosed 🧬A novel causative mutation enters medical literature https://www.readcube.com/articles/10.3389/fped.2021.713924 #bioinformatics #bigdata #snrtg #mednews #openscience #immunology #genomics #raredisease https://t.co/2zElDdSRew
@Primary_Immune 2 years ago
On "the (continuing) potential of genomics to change the practice of Medicine" 🧬 https://www.cell.com/action/showPdf?pii=S0002-9297%2821%2900336-0 #bioinformatics #womeninSTEM #bigdata #scicomm #snrtg #openscience #genomics #raredisease https://t.co/SZLMTjwmtL
@Primary_Immune 2 years ago
🧬 A novel "Inborn Error of Immunity" enters medical literature ▪️ Its name is "X-AIDE” ➡️recurrent bacterial/viral infections + autoinflammation https://www.medrxiv.org/content/10.1101/2021.09.22.21263689v1.full.pdf #bioinformatics #itrtg #bigdata #openscience #scicomm #immunology #autoimmune #genomics #raredisease https://t.co/5ZZLpMXPer
@Primary_Immune 2 years ago
🧬1 of 2 novel "Inborn Errors of Immunity" / #PrimaryImmunodefiency disorders entering medical literature this week -primarily a B cell differentiation defect https://www.nature.com/articles/s41590-021-00951-z.epdf?sharing_token=iLNO9Fo3gZjKPjMK8Q5gbNRgN0jAjWel9jnR3ZoTv0PnbLFCRVKQB9UBNRkARV_VpfVVBs-o32EMKkUHNJkVnE3fWWdjtVJ7gzLCKnDhZZVeZLaiUWNeIXmBTTotlG0TFsmNGnaPd-tkV0li6PYdSfJOfNQi0gYmYitR0UzISK4%3D #bioinformatics #scicomm #openscience #meded #snrtg #bigdata #immunology #genomics #raredisease https://t.co/OHE9jpzz6f
@Primary_Immune 2 years ago
"In a study of 11 medical-mystery patients, an international team of researchers has discovered a new and unique form of amyotrophic lateral sclerosis pediatric-onset (ALS)" https://www.ninds.nih.gov/News-Events/News-and-Press-Releases/Press-Releases/Scientists-discover-new-genetic-form-ALS-children #bioinformatics #bigdata #itrtg #scicomm #openscience #genomics #raredisease https://t.co/TOqH4vXzuJ
@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 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 3 years 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 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 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 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
. 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 years 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 3 years 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 3 years 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 3 years 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 3 years 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 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
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 3 years 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 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
@Primary_Immune 4 years 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 4 years 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 4 years 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 4 years 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 4 years 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
@Primary_Immune 5 years ago
"With more people turning to genes for answers to medical questions the #genomics community faces the challenge of cataloging the world’s genetic info into practical, accessible systems" http://www.mcgilltribune.com/sci-tech/removing-the-barriers-for-genetic-data-sharing-040219/ #ITRTG #technology #BigData #SciComm #MedEd #RareDisease #OpenScience https://t.co/DTBADQvXb8
@Primary_Immune 5 years ago
When Keeping Up with the Latest on Your Medical Condition Too-Regularly Costs a F#&KING Arm and a Leg https://www.jacionline.org/article/S0091-6749(18)31358-7/abstract #IoT #ITRTG #MedEd #SciComm #tech #BigData #genomics #immunology #PrimaryImmunodeficiency #RareDisease On the Need for #OpenAccess & #OpenScience https://t.co/EzqQXvBzAS
@Primary_Immune 6 years ago
#PancreaticCancer (And Beyond) - Meaningful Medical Breakthroughs Rely and Thrive on #OpenScience, Collaboration and #DataSharing | https://www.eurekalert.org/pub_releases/2018-02/jhm-fng022118.php #genomics #genetics #IoT #ITRTG #cancer #DataScience #science #RareDisease #SNRTG #technology https://t.co/4fS3TDelRo
@Primary_Immune 6 years ago
Sensational Medical Detectivism & Research - And He's an Undergrad! http://newsstand.clemson.edu/mediarelations/undergraduate-student-uncovers-genes-associated-with-aggressive-form-of-brain-cancer/?utm_source=homepage #SNRTG #OpenScience #STEM #education #ITRTG #BigData #RareDisease #genetics #cancer #ChildhoodCancer #brain @reksulah @ClemsonUniv https://t.co/w0v9LywcZn
@Primary_Immune 6 years ago
These Researchers Are Doing Something "Extreme" to Advance Medical Science https://thevarsity.ca/2018/02/05/sharing-your-lab-notes/ #SNRTG #OpenScience #genetics #genomics #BigData #ITRTG #science #RareDisease #STEM #brain #SciComm #IoT #technology #DataScience https://t.co/PxtehZ49UU
@Primary_Immune 6 years ago
To "Hasten Discovery of New Medical Treatments" These Researchers Are Doing Something Remarkable... https://www.utoronto.ca/news/open-science-university-toronto-researchers-publish-lab-notes-real-time #ITRTG #OpenScience #RareDisease #OA #BigData #SNRTG #genomics #genetics #ChildhoodCancer #IoT #SocialMedia #technology #brain #ALS #SciComm @UofT https://t.co/9JSVh2dNnA
@Primary_Immune 6 years ago
A Model for Rare Medical Research: Patient/Researcher Collaboration, #OpenScience, Data-Sharing & Mining, #Genomics and #SocialMedia | https://www.the-scientist.com/?articles.view/articleNo/51148/title/Researchers-Team-Up-with-Patients-to-Build-a-Breast-Cancer-Database/ #ITRTG #IoT #RareDisease #BreastCancer #cancer #SNRTG #BigData #genetics #science @corrie_painter @broadinstitute https://t.co/xZSI10MD3e
@Primary_Immune 6 years ago
Good Ways to Solve Any Problem, Medical (In This Case) or Otherwise: Sharing, Creativity & Openness https://www.nature.com/articles/d41586-017-08966-z #OpenScience #ITRTG #BigData #technology #brain #science #tech #RareDisease #Biology #genomics #genetics @betenoire1 @Nature https://t.co/KHT8DHtL1W
@Primary_Immune 6 years ago
When It Comes to Online #Research Impact, Medicine & Health Sciences Lead the Way https://www.timeshighereducation.com/data-bites/data-bite-what-kind-research-popular-online #SNRTG #BigData #OpenScience #RareDisease #science #technology #SciComm #IoT #ITRTG #DataScience #healthcare #IT #tech https://t.co/mLUtCCHImF
@Primary_Immune 6 years ago
To All Who Worked in the Past Year to Bring Medical Treatments and Cures...Thank You! #OpenScience #science #ChildhoodCancer #RareDisease #cancer #genetics #genomics #CRISPR #GeneTherapy #GlobalHealth #ITRTG #StemCell #biotech #pharma #BigData #SNRTG #research https://t.co/4WKLJdUWbE
@Primary_Immune 6 years ago
On #RareDisease Research & '#GeneTherapy 2.0' - 'We Need To Celebrate Advances in Medical Science – Though They May Take Years to Emerge" https://www.theguardian.com/science/2017/dec/17/stunning-gene-therapy-breakthrough-riposte-to-truth-tarnished-times #OpenScience #science #ITRTG #BigData #genomics #biotech #data #biotech #genetics #innovation #SNRTG #technology
@Primary_Immune 6 years ago
DNA Sequencing: The Present and Future of Medicine https://www.washingtonpost.com/news/theworldpost/wp/2017/12/13/human-genome/?utm_term=.57777a19b721 #ITRTG #OpenScience #science #BigData #tech #technology #genetics #genomics #RareDisease #GlobalHealth #SNRTG #innovation https://t.co/TF6BLhqUYZ
@Primary_Immune 6 years ago
Personas Behind One of 2017's Biggest Medical Breakthroughs http://scopeblog.stanford.edu/2017/12/13/a-very-hopeful-job-saving-the-sickest-kids-with-a-new-leukemia-therapy/ #ITRTG #OpenScience #genomics #leukemia #ChildhoodCancer #RareDisease #OpenScience #BigData #biotech #immunotherapy #science #technology https://t.co/zzUP1ZFSoG
@Primary_Immune 6 years ago
A Call for Compassionate Medical Science to Merge with Family-Driven #CitizenScience | http://wbur.fm/2Aqtl1S #ITRTG #genomics #IoT #technology #RareDisease #science #BigData #OpenScience #DataScience #biotech #pharma #MedEd #SNRTG #genetics https://t.co/IJT4tNNDNF