There are almost 5⃣0⃣0⃣ "Inborn Errors of Immunity" in medical literature 🧬IL-10R deficiency is but one of them https://onlinelibrary.wiley.com/doi/10.1111/apt.16837 #bioinformatics #openscience #scicomm #snrtg #rstats #bigdata #immunology #genomics #raredisease https://t.co/DDEEEDfVNF
Pediatric #COVID19 in Africa ...tragic data reflects global health and medical inequities https://www.umaryland.edu/news/archived-news/february-2022/african-children-dying-of-covid-19-at-higher-rates.php #WomenInSTEM #digitalhealth #bigdata #openscience #scicomm #itrtg #globalhealth https://t.co/FBCY7s2AHQ
A newly-described Primary Immunodeficiency / 'Inborn Error of Immunity' enters medical literature "a novel disorder of dendritic cells and monocytes" https://bit.ly/3wQy8mQ #bioinformatics #100daysofcode #bigdata #mednews #snrtg #openscience #immunology #genomics #raredisease https://t.co/Hhw82BROCN
On "the (continuing) potential of genomics to change the practice of Medicine" 🧬 https://www.cell.com/action/showPdf?pii=S0002-9297%2821%2900336-0 #bioinformatics #womeninSTEM #bigdata #scicomm #snrtg #openscience #genomics #raredisease https://t.co/SZLMTjwmtL
#COVID19 in adult "hem-onc" patients: A big cohort study comprising 132 medical centers in 32 countries https://jhoonline.biomedcentral.com/articles/10.1186/s13045-021-01177-0 #python #bigdata #openscience #snrtg #scicomm #hematology #oncology #immunology https://t.co/BSVCmjAWTH
🦠🧬 Always a pleasure to see #PrimaryImmunodeficiency/"IEI" research contributing to science & medicine ▪️ here, helping to elucidate fundamentals of anti-fungal immunity https://www.nature.com/articles/s41598-021-99838-0 #bioinformatics single cell #openscience #snrtg #scicomm #bigdata #immunology https://t.co/WuToTdNd2N
It's not everyday that new antibodies (auto-ABs in this case) enter medical literature. - These 7 help to eluciate a rare #autoimmune syndrome https://www.sciencedirect.com/science/article/abs/pii/S1521661621002060 #bioinformatics single cell #openscience #itrtg #scicomm #bigdata #immunology https://t.co/xNEjaAXHBU
🧬 A novel "Inborn Error of Immunity" enters medical literature ▪️ Its name is "X-AIDE” ➡️recurrent bacterial/viral infections + autoinflammation https://www.medrxiv.org/content/10.1101/2021.09.22.21263689v1.full.pdf #bioinformatics #itrtg #bigdata #openscience #scicomm #immunology #autoimmune #genomics #raredisease https://t.co/5ZZLpMXPer
🧬1 of 2 novel "Inborn Errors of Immunity" / #PrimaryImmunodefiency disorders entering medical literature this week -primarily a B cell differentiation defect https://www.nature.com/articles/s41590-021-00951-z.epdf?sharing_token=iLNO9Fo3gZjKPjMK8Q5gbNRgN0jAjWel9jnR3ZoTv0PnbLFCRVKQB9UBNRkARV_VpfVVBs-o32EMKkUHNJkVnE3fWWdjtVJ7gzLCKnDhZZVeZLaiUWNeIXmBTTotlG0TFsmNGnaPd-tkV0li6PYdSfJOfNQi0gYmYitR0UzISK4%3D #bioinformatics #scicomm #openscience #meded #snrtg #bigdata #immunology #genomics #raredisease https://t.co/OHE9jpzz6f
"In a study of 11 medical-mystery patients, an international team of researchers has discovered a new and unique form of amyotrophic lateral sclerosis pediatric-onset (ALS)" https://www.ninds.nih.gov/News-Events/News-and-Press-Releases/Press-Releases/Scientists-discover-new-genetic-form-ALS-children #bioinformatics #bigdata #itrtg #scicomm #openscience #genomics #raredisease https://t.co/TOqH4vXzuJ
🧬 A nice update on gene therapy '2.0' ...like the ring of "genes as medicines" :-) https://www.nature.com/articles/s41467-020-19507-0 #openscience #datascience #bigdata #rstats #technology #biotech #itrtg #genomics #raredisease https://t.co/EMUZn1AXBO
The 3⃣1⃣st case in medical literature of #COVID19/#SARSCoV2 in a patient with a #PrimaryImmunodeficiency disorder 15 year-old Spanish girl with "CTLA4" deficiency -survived https://link.springer.com/article/10.1007%2Fs00431-020-03793-3 #openscience #codingnewbie #rstats #bigdata #immunology #raredisease #openscience https://t.co/Mo4y3Ucb5B
🧬 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
A new immuno-genomic variant enters medical literature... ...and life and death hanging in the balance for rare #PrimaryImmunodeficiency patients https://onlinelibrary.wiley.com/doi/abs/10.1111/petr.13808 #rstats #datascience #openscience #bigdata #immunology #genomics #raredisease https://t.co/U4by2LYNE4
. 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
Some intriguing examples of a targeted, precision medicine approach in the treatment of #PrimaryImmunodeficiency disorders https://www.sciencedirect.com/science/article/abs/pii/S0889856120300217 #openscience #bigdata #WomenInSTEM #iot #itrtg #immunology #genomics #raredisease https://t.co/sfMfR8kr2u
. "Med Ed" in Immunology The case for case-reports to enhance knowledge and curiosity in MDs and medical students 🧬especially cases of #RareDisease patients :-) https://www.frontiersin.org/articles/10.3389/fimmu.2020.01756/abstract #iot #itrtg #MedEd #openscience #bigdata #immunology #PrimaryImmunodeficiency #genomics https://t.co/mJnv7iAwxV
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
Case number 12 of a #PrimaryImmunodeficiency patient infected with #COVID19 enters medical literature https://onlinelibrary.wiley.com/doi/full/10.1002/pbc.28382 #serverless #iot #itrtg #openscience #meded #WomenInStem #bigdata #immunology #SARS_CoV_2 #raredisease https://t.co/XOYN6uJWxn
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
It's not every day that a newly-identified immune cell is described ...a viral respiratory-infection-fighter enters medical literature _News: https://www.sciencedaily.com/releases/2020/05/200508155915.htm #itrtg #openscience #rstats #virology #scicomm #bigdata _Journal: https://www.sciencedirect.com/science/article/pii/S1074761320301631 #immunology #genomics https://t.co/mipvH0TaUS
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
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
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
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
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
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
I have access to ~98% of medical journals. If anyone ever needs a paywalled article, shoot me a Twitter DM, I'll be happy to oblige. #IoT #ITRTG #BigData #SciComm #RareDiseases #OpenScience
Publicly acknowledging and thanking participants in medical research should be the norm https://twitter.com/PGCgenetics/status/1150789257503629312 #MedEd #OpenScience #SciComm #BigData #genomics #RareDisease #PatientsIncluded
"With more people turning to genes for answers to medical questions the #genomics community faces the challenge of cataloging the world’s genetic info into practical, accessible systems" http://www.mcgilltribune.com/sci-tech/removing-the-barriers-for-genetic-data-sharing-040219/ #ITRTG #technology #BigData #SciComm #MedEd #RareDisease #OpenScience https://t.co/DTBADQvXb8
Dr. Andreas M Kogelnik, Open Medicine Institute, talking about using genomics, proteomics, and data revolution to find a cure for Lyme disease. #BigData #LymeInnovation #TippingPoint #OpenScience #Omics https://t.co/FVdT1AL3Fn
When Keeping Up with the Latest on Your Medical Condition Too-Regularly Costs a F#&KING Arm and a Leg https://www.jacionline.org/article/S0091-6749(18)31358-7/abstract #IoT #ITRTG #MedEd #SciComm #tech #BigData #genomics #immunology #PrimaryImmunodeficiency #RareDisease On the Need for #OpenAccess & #OpenScience https://t.co/EzqQXvBzAS
Good Ways to Solve Any Problem, Medical (In This Case) or Otherwise: Sharing, Creativity & Openness https://www.nature.com/articles/d41586-017-08966-z #OpenScience #ITRTG #BigData #technology #brain #science #tech #RareDisease #Biology #genomics #genetics @betenoire1 @Nature https://t.co/KHT8DHtL1W
When It Comes to Online #Research Impact, Medicine & Health Sciences Lead the Way https://www.timeshighereducation.com/data-bites/data-bite-what-kind-research-popular-online #SNRTG #BigData #OpenScience #RareDisease #science #technology #SciComm #IoT #ITRTG #DataScience #healthcare #IT #tech https://t.co/mLUtCCHImF
Tricorder & Beyond - On #ScienceFictionDay, Recognizing Medical Technology That Has, Or Is Making, the Leap from Fiction to Reality #ITRTG #OpenScience #scifi #sciencefiction #IoT #innovation #BigData #science #technology #SNRTG #tech #StarTrek https://t.co/hXDmPu1Uyn
To All Who Worked in the Past Year to Bring Medical Treatments and Cures...Thank You! #OpenScience #science #ChildhoodCancer #RareDisease #cancer #genetics #genomics #CRISPR #GeneTherapy #GlobalHealth #ITRTG #StemCell #biotech #pharma #BigData #SNRTG #research https://t.co/4WKLJdUWbE
These Medical Devices Have One Thing In Common - All Were Designed By Doctors and Nurses! http://news.mit.edu/2017/startup-makerhealth-turns-clinicians-into-makers-1219 #innovation #OpenScience #ITRTG #GlobalHealth #tech #technology #science #BigData #SNRTG #startup #nursing #startups #STEM #engineering https://t.co/iWiA7RqELz
On #RareDisease Research & '#GeneTherapy 2.0' - 'We Need To Celebrate Advances in Medical Science – Though They May Take Years to Emerge" https://www.theguardian.com/science/2017/dec/17/stunning-gene-therapy-breakthrough-riposte-to-truth-tarnished-times #OpenScience #science #ITRTG #BigData #genomics #biotech #data #biotech #genetics #innovation #SNRTG #technology