Medical Technology

@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

🧬 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

. 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

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 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_Immune1 7 years ago

The 'Art' of Medical Diagnosis http://qz.com/870953/how-studying-victorian-paintings-teach-medical-students-to-be-better-doctors/ #SNRTG #BigData #RareDisease #science #Medicine #History… https://twitter.com/i/web/status/813510181384556544

@Primary_Immune1 7 years ago

#RareDisease - When Only #Genomics Can Make the Diagnosis http://www.al.com/news/huntsville/index.ssf/2016/10/figuring_out_anna_brooke_with.html #SNRTG #BigData #genetics… https://twitter.com/i/web/status/784789634480046081

@Primary_Immune1 7 years ago

#RareDisease: From 'Leah Syndrome' to Diagnosis http://www.bradenton.com/news/nation-world/national/article100911282.html #SNRTG #BigData #genomics #genetics #science https://t.co/0XYabam1eB

@Primary_Immune1 7 years ago

A #RareDisease Diagnosis 30 Years in the Making http://www.abc.net.au/news/2016-06-18/adelaide-family-learns-to-cope-with-rare-disorder-bpan/7512474 #SNRTG #BigData #genetics #science #Genomics https://t.co/b91weZ7DBD