@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
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
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
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
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