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@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
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 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
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
@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 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