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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 nearly 5⃣0⃣0⃣ known "Inborn Errors of Immunity" in medical literature 'EXTL3-Deficiency' is but one of them https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887-022-03143-2 #bioinformatics #scicomm #itrtg #mednews #datascience #immunology #genomics #raredisease https://t.co/FmpmMYswvI
@RareRevolutionM 3 years ago
Are Patient registries the missing link in rare disease research? Find out more here: https://bit.ly/MENA-PatientRegistries #RareDisease #Research #PatientRegistries #Magazine #Medicine #Treatment #Data #DataScience #Tech https://t.co/Ck3u9QirUq
@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
🧬 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 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
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 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 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
. 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
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
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 years ago
A new, just-identified #PrimaryImmunodeficiency disorder enters medical literature #ITRTG #BigData #immunology #DataScience #genomics #SciComm #MedEd #RareDisease #technology cc: @220Amoma4 @DrYesimDem @Info4PI Article: https://www.eurekalert.org/pub_releases/2019-05/uoca-ndd050619.php Journal: http://jem.rupress.org/content/early/2019/04/29/jem.20182015 https://t.co/myIR5L7P5Y
@Primary_Immune 4 years ago
Chronic Fatigue Syndrome gets a diagnostic biomarker... ...Remarkable news for a medical disorder that many experts claimed didn't even exist http://med.stanford.edu/news/all-news/2019/04/biomarker-for-chronic-fatigue-syndrome-identified.html?linkId=66719226 #BigData #SNRTG #DataScience #sciComm #CFS #MedEd #hematology #technology #immunology #RareDisease https://t.co/iEv0j5IK4U
@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 Brand New #RareDisease Enters Medical Literature; Genes Never Before Implicated in Human Pathology Decoded https://www.eurekalert.org/pub_releases/2019-02/uob-fpa020519.php #IoT #ITRTG #BigData #SciComm #Meded #DataScience #technology #genomics #RareDisease #EnfermedadesRaras @UniBarcelona https://t.co/yWqJ7lZtTQ
@Primary_Immune 5 years ago
An Inspirational and Touching Profile of a Rare Disease Cure-Hunter in the Winter 2019 Issue of Harvard Medical Magazine https://hms.harvard.edu/magazine/artificial-intelligence #ITRTG #BigData #DataScience #SciComm #MedEd #technology #genomics #AI #MachineLearning #RareDisease @IAmSamFin @zakkohane @HarvardDBMI https://t.co/Yyy4fMXEla
@Primary_Immune 5 years ago
Not Sure About Compensation, But YES, Ownership of OUR Data Is a Human Right https://www.economist.com/open-future/2019/01/21/we-need-to-own-our-data-as-a-human-right-and-be-compensated-for-it #IoT #ITRTG #BigData #DataScience #SciComm #MedEd #music #technology #data #tech #HumanRights #genomics #RareDisease #AI CC: @erictopol ***Nice Mention of Medical Data :-) https://t.co/A5ZioXQYLK
@Primary_Immune 5 years ago
A Brand New Rare #Genetic Disease Enters Medical Literature - A New Primary Immunodeficiency Disorder :-) https://www.mcgill.ca/newsroom/channels/news/another-medical-cold-case-cracked-muhcs-dr-house-292353 #ITRTG #IoT #BigData #DataScience #genomics #SciComm #technology #genetics #MedEd #PrimaryImmunodeficiency #Immunology #RareDisease @mcgillu https://t.co/K03ORKB15v
@Primary_Immune 5 years ago
A Brand New Rare Genetic Disorder Enters Medical Literature #IoT #ITRTG #BigData #bioinformatics #DataScience #technology #SciComm #MedEd #genetics #genomics #RareDisease @cgonzagaj @ClinicSpecChild Article: https://www.eurekalert.org/pub_releases/2018-11/cfsc-rfm111918.php Journal: https://www.cell.com/cms/10.1016/j.ajhg.2018.09.014/attachment/d5042c06-1a04-428c-a4b1-16bd615b484a/mmc2 https://t.co/IfcBtqJ6Ht
@Primary_Immune 5 years ago
Brain Research to Cancer, Stem Cells to Genetics, And All Points Between - The Rising Stars of Science & Medicine, 2018 https://www.statnews.com/wunderkinds/?utm_content=buffer01951&utm_medium=social&utm_source=twitter&utm_campaign=twitter_organic #IoT #ITRTG #BigData #DataScience #SciComm #MedEd #genetics #genomics #biotech #STEM #StemCells #technology #RareDisease @statnews https://t.co/xMHr4pMAfG
@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 5 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
50 #Science Breakthroughs That Have, And Will Save, Lives Immeasurable - Medical Topics Abound! https://www.weforum.org/agenda/2018/03/the-50-most-important-life-saving-breakthroughs-in-history #IoT #IT #BigData #genetics #genomics #innovation #DataScience #AI #MedEd #technology #RareDisease #Drones #3DPrinting #GlobalHealth #pharma #biotech https://t.co/0R3baRIxHR
@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
#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
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
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
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
@Primary_Immune 6 years ago
Brave, Pioneering Patients Advance Medicine: Thank YOU @christiansings for Paving the Way for Others! #SNRTG #OpenScience #RareDisease #GeneTherapy #blindness #BigData #DataScience #genomics #science #technology #tech #genetics #ITRTG #INSPIRATION! https://t.co/ZXwvWpAMmF
@Primary_Immune 6 years ago
"Smart Machines" Take Giant Leap Toward Transforming Medicine http://www.thebritishjournal.com/science/robot-becomes-worlds-first-machine-pass-medical-exam-1891-2017/ #robots #IoT #ITRTG #technology #tech #RareDisease #OpenScience #DataScience #SNRTG #AI #brain #science #BigData https://t.co/wQ4LJR3TL9
@Primary_Immune 6 years ago
A "Bowie-Esque" Approach to Medical #Innovation; One Interesting Read! http://online.liebertpub.com/doi/pdf/10.1089/omi.2017.0148 #SNRTG #OpenScience #RareDisease #genomics #science #DataScience #DavidBowie #ITRTG #BigData #biotech #GlobalHealth #innovation https://t.co/06z6sYRlsx
@Primary_Immune 6 years ago
The Vast Potential for Diagnosing Unusual Medical Cases on #SocialMedia | https://www.npr.org/sections/goatsandsoda/2017/11/13/557548378/is-it-a-good-idea-to-share-patient-info-on-social-media #ITRTG #IoT #DataScience #OpenScience #RareDisease #tech #SocialMedia #science #BigData #cancer https://t.co/NtHCEgxqaT