@Primary_Immune 1 month 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 1 month 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 1 month 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 2 months 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 5 months 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 5 months 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 6 months 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 7 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 7 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 8 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 8 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 10 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 11 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 11 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 11 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 11 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 1 year 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 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
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 1 year 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 1 year 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 1 year 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 2 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 2 years ago
The Remarkable Story Behind the Story of the First FDA Approved #Marijuana-Based Drug (For Rare #Epilepsy) | https://www.cincinnati.com/story/news/2018/06/27/cincinnati-test-site-weed-drug-fda-has-just-approved/732043002/ #MedED #ITRTG #BigData #science #technology #genetics #SNRTG #biotech #Dravet #MedicalMarijuana #inspiration #RareDisease #SciComm By @apsaker https://t.co/eNC61FgOhS
@Primary_Immune 2 years ago
The First #Cannabis-Based Drug (For #Epilepsy) Just Gained FDA Approval; The Remarkable Story Behind the Story https://www.cincinnati.com/story/news/2018/06/27/cincinnati-test-site-weed-drug-fda-has-just-approved/732043002/ #ITRTG #BigData #science #technology #genetics #SNRTG #biotech #Dravet #marijuana #MedicalMarijuana #inspiration #RareDisease #SciComm @apsaker https://t.co/QcweE89RhI
@Primary_Immune 2 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 2 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 2 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 3 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 3 years ago
A Researcher Facing Serious Medical Challenges Speaks Eloquently on Opportunity and #Inclusion | https://www.nature.com/articles/d41586-018-04598-z #science #BigData #dystonia #genetics #ITRTG #SNRTG #physics #math #mathematics #RareDisease #disabilities #technology #STEM #MedEd #SciComm @Nature https://t.co/xi3mVxTQeV
@Primary_Immune 3 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 3 years ago
Medicine Meets #Comics - Great Links to Some Brilliant, Touching & Educational Resources https://hyperallergic.com/430440/inside-comics-collection-worlds-largest-medical-library/ #ITRTG #BigData #art #ArtTherapy #RareDisease #education #IoT #MedEd #cancer #ChildhoodCancer #MentalHealth #ChronicIllness #SNRTG @ElenaGoukassian @hyperallergic https://t.co/CRX6jhrsGB
@Primary_Immune 3 years ago
Life-Changing Medical Innovation - From (My) Israel to the World http://www.newsweek.com/israel-wheelchair-paralyzed-rewalk-amit-goffer-831426 #BigData #innovation #science #biotech #disabilities #SNRTG #disability #technology #inspiration #Israel https://t.co/9NDOlwnDek
@Primary_Immune 3 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 3 years ago
A #Smartphone Microscope Could Transform Medical Diagnostics Globally http://www.newsweek.com/3d-printed-smartphone-microscope-could-prevent-disease-developing-countries-812938 #ITRTG #innovation #science #BigData #tech #technology #RareDisease #SNRTG #science #pathology #GlobalHealth #startups #3Dprinting https://t.co/iCTsE1I8hs
@Primary_Immune 3 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