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, 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 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

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 5 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 6 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 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

@Primary_Immune1 7 years ago

10 Years of Rare Disease Day http://www.nature.com/gt/journal/v24/n2/full/gt20177a.html #SNRTG #BigData #RareDisease #science #tech #GeneTherapy… https://twitter.com/i/web/status/835587769426710528

@Primary_Immune1 7 years ago

Groundbreaking #Immunotherapy Trial for 80 Rare Cancers http://www.sandiegouniontribune.com/news/health/sd-me-rare-cancers-20170118-story.html #SNRTG #BigData #RareDisease… https://twitter.com/i/web/status/822122733186273280

@Primary_Immune1 7 years ago

Rare Diseases - 'Stray Bullets' of the Medical World http://www.bangkokpost.com/lifestyle/social-and-lifestyle/1141437/stray-bullets #SNRTG #BigData #RareDisease… https://twitter.com/i/web/status/801125773340012546

@Primary_Immune1 7 years ago

The Fish That Could Cure Human Rare Diseases http://thechronicleherald.ca/novascotia/1396606-acoa-to-zebrafish-dalhousie-university-gets-help-in-orphan-disease-research #SNRTG #BigData #RareDisease #Biology #genomics https://t.co/Xu7MxkuqTQ

@Primary_Immune1 7 years ago

A Deadly Rare Disease, A Glimmer of Hope http://www.sciencealert.com/activity-of-the-huntington-s-disease-gene-has-been-halted-for-6-months-in-mice #SNRTG #BigData #RareDisease #genomics #GeneTherapy https://t.co/yqjzDTquYD