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@Primary_Immune 1 year ago
A 3 decade-plus medical mystery, apparently solved... https://medicalxpress.com/news/2022-05-genetic-sarin-nerve-gas-gulf.html #bioinformatics #snrtg #scicomm #datascience #openscience #genomics https://t.co/As6nKg4fAx
@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 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
🧬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 3 years ago
🧬 A newly-IDd genetic disorder enters medical literature - severe -> fatal - immunological/auto-inflammatory +microcephaly, dystrophy, liver dysfunction, and more https://www.medrxiv.org/content/10.1101/2021.03.08.21252805v1.full.pdf #bioinformatics #iot #rstats #datascience #snrtg #immunology #genomics #raredisease https://t.co/E3iBGLQGME
@Primary_Immune 3 years ago
🧬 Immuno-genomics and Precision-medicine in action ...ultra-rare diagnosis and successful treatment for a very sick infant https://www.jacionline.org/article/S0091-6749(21)00378-X/fulltext #bioinformatics #iot #snrtg #bigdata #immunology #PrecisionMedicine #genomics https://t.co/bwi1y6sAvM
@Primary_Immune 3 years ago
🧬 The power of immuno-genomics: A just-identified #PrimaryImmunodeficiency disorder enters medical literature https://www.biorxiv.org/content/10.1101/2021.02.22.432146v1.full.pdf #Bioinformatics #iot #datascience #bigdata #snrtg #technology #immunology #genomics #RareDisease https://t.co/zHRmXkY8sY
@Primary_Immune 3 years ago
. 🧬 A newly-identified Primary Immunodeficiency (+ autoimmune) disorder enters medical literature ...a sick infant diagnosed https://academic.oup.com/hmg/advance-article-abstract/doi/10.1093/hmg/ddab035/6124521?redirectedFrom=fulltext #100DaysOfCode #rstats #datascience #snrtg #PrimaryImmunodeficiency #bioinformatics #immunology #genomics #raredisease https://t.co/Baj7GQ7L7w
@Primary_Immune 3 years 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 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 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
. 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 years 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 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
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
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 3 years 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 4 years 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 4 years 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 4 years 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 4 years 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 4 years 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 4 years 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 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
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 4 years 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 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
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 4 years ago
A Rare #PrimaryImmunodeficiency Diagnosis Captured in a Compelling Case-Report, Worthy of a Medical Textbook https://bmcmedgenet.biomedcentral.com/track/pdf/10.1186/s12881-019-0837-4 #SciComm #BigData #bioinformatics #technology #MedEd #SNRTG #genomics #immunology #exome #RareDisease @BioMedCentral @OAgenetics @BMC_series https://t.co/WV4M50ZnhB
@Primary_Immune 4 years ago
For 1st time, scientists recreate cell division—outside a cell "helps understand how cells carry out everyday activity; could lead to medical breakthroughs" #BigData #genomics #RareDisease #MedEd #sciComm https://t.co/nX6uPo8N45 #IoT #biology #SNRTG https://news.uchicago.edu/story/first-time-scientists-recreate-cell-division-outside-cell
@Primary_Immune 4 years ago
Twins are invaluable participants in medical genetic research. Now a unique database of those interested... https://dailynorthwestern.com/2019/05/06/campus/northwestern-university-of-illinois-launch-database-of-twins-for-research/ #IoT #BigData #SNRTG #twins #biology #SciComm #MedEd #genetics #genomics #RareDisease https://t.co/AtASOuQAQM
@Primary_Immune 5 years ago
The 9:1 gender imbalance in autoimmunity: A fascinating answer to an enduring medical mystery #SNRTG #DataScience #Scicomm #Meded #autoimmune #immunology #Lupus #genomics #RareDisease Article: https://eurekalert.org/pub_releases/2019-04/mm-u-dmh041819.php Journal: https://insight.jci.org/articles/view/127291 @umichmedicine @UMich https://t.co/NxIktw4sSm
@Primary_Immune 5 years ago
A Nice Update on a Medical "Moonshot" Project - Mapping EVERY SINGLE Cell of the Human Body https://wellcome.ac.uk/news/how-make-sense-bodys-billions-cells?utm_source=twitter&utm_medium=referral-wellcome&utm_campaign= #MedED #ITRTG #SciComm #genetics #SNRTG #genomics #tech #technology #BigData #DataScience #biology #RareDisease #RareDiseases @humancellatlas https://t.co/JKh3TecHzf
@Primary_Immune 5 years ago
A Nice Update on a Medical "Moonshot" Project - Mapping All 3 BILLION Cells of the Human Body! https://wellcome.ac.uk/news/how-make-sense-bodys-billions-cells?utm_source=twitter&utm_medium=referral-wellcome&utm_campaign= #ITRTG #SciComm #genetics #SNRTG #genomics #tech #technology #BigData #DataScience #biology #RareDisease #RareDiseases @humancellatlas https://t.co/X2q3vn9dZK
@Primary_Immune 5 years ago
It's Not Everyday That a Brand New #RareDisease Enters Medical Literature https://elifesciences.org/articles/32451 #SciComm #ITRTG #BigData #DataScience #IoT #innovation #technology #SNRTG #MedEd #brain #genetics #epilepsy #neuroscience #genomics https://t.co/fisuGUtWne
@Primary_Immune 6 years ago
Towards Medical Cures - One Generous Patient Donating Their Medical Data At a Time https://www.theguardian.com/commentisfree/2018/apr/22/medical-research-needs-big-data-tessa-jowell-gets-ball-rolling #ITRTG #MedEd #BigData #science #technology #SNRTG #IT #IoT #philanthropy #DataScience #SciComm #RareDisease #genetics #genomics https://t.co/XwQwOyU1Rq
@Primary_Immune 6 years ago
"Sequence Me" - If Precision Medicine Needed a Sales-Pitch...It's Found One! https://www.forbes.com/sites/zinamoukheiber/2018/04/05/bryce-olson-wants-to-raise-awareness-about-precision-medicine-his-rallying-cry-sequence-me/#8b225f12a27f #ITRTG #BigData #science #innovation #technology #IoT #genetics #genomics #DataScience #SNRTG #ProstateCancer #RareDisease https://t.co/Ppe9NS2DUd
@Primary_Immune 6 years ago
For Medical Insight, Scientists Are Turning to (and Sequencing) the "Weird" and the Rare https://massivesci.com/articles/human-regeneration-limbs-axolotl-animal-genome/ #ITRTG #biology #genetics #genomics #cancer #ChildhoodCancer #SNRTG #science #technology #BigData #RareDisease #RegenMed https://t.co/4TzKBbyskg
@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
Modern Medicine and The Bible Converge to Decode, Treat a #RareDisease | http://www.jpost.com/HEALTH-SCIENCE/Biblical-description-helps-scientists-study-rare-skin-disease-542962 #SNRTG #dermatology #Israel #BigData #science #genetics #genomics #biotech #immunology #ITRTG #religion https://t.co/rIdAPLhOKx
@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
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