@Primary_Immune 1 year ago
A 3 decade-plus medical mystery, apparently solved... https://medicalxpress.com/news/2022-05-genetic-sarin-nerve-gas-gulf.html #bioinformatics #snrtg #scicomm #datascience #openscience #genomics https://t.co/As6nKg4fAx
@Primary_Immune 2 years ago
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
@Primary_Immune 2 years ago
🧬There are nearly 5⃣0⃣0⃣ known "Inborn Errors of Immunity" in medical literature 'EXTL3-Deficiency' is but one of them https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887-022-03143-2 #bioinformatics #scicomm #itrtg #mednews #datascience #immunology #genomics #raredisease https://t.co/FmpmMYswvI
@HiLIFE_helsinki 2 years ago
.@dalygene, director of @FIMM_UH, explained how @FinnGen_FI is partnering with #pharma to advance medical discovery. #yscience #slush21 #bigdata #genetic #genomics #medicine #WeAreHelsinkiUni @helsinkiuni https://t.co/FHV2zBPWZF
@bobehayes 2 years ago
Six Key Applications of #DataScience in #Healthcare 1. #Datadriven clinical decision making 2. Medical imaging 3. #Genomics and genetics 4. Drug discovery 5. Remote patient monitoring 6. Disease tracking and prevention https://bit.ly/3CJnobp #ArtificialIntelligence
@Primary_Immune 2 years ago
🧬A newly-described 'Inborn Error of Immunity' / Primary Immunodeficiency enters medical literature "a novel disorder of dendritic cells & monocytes" https://www.jimmunol.org/content/207/10/2423 #bioinformatics #100daysofcode #bigdata #mednews #itrtg #openscience #immunology #genomics #raredisease https://t.co/yq9u6M0NjN
@Primary_Immune 2 years ago
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
@Primary_Immune 2 years ago
A "Bubble-Baby" diagnosed 🧬A novel causative mutation enters medical literature https://www.readcube.com/articles/10.3389/fped.2021.713924 #bioinformatics #bigdata #snrtg #mednews #openscience #immunology #genomics #raredisease https://t.co/2zElDdSRew
@Primary_Immune 2 years ago
🧬 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
@jleePSOC 2 years ago
On #WorldCancerResearchDay I'm excited to be part of @USCSchPharmacy Dept of Regulatory & Quality Sciences symposium on "Role of Genomics in Medical Product Development" & share my perspective on #bigdata #genomics #datasharing #datascience @UscEllison https://bit.ly/39yHLvN https://t.co/uOT9rfjpOD
@Primary_Immune 2 years ago
🧬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
@Primary_Immune 2 years ago
"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
@Primary_Immune 3 years ago
🧬 A newly-IDd genetic disorder enters medical literature - severe -> fatal - immunological/auto-inflammatory +microcephaly, dystrophy, liver dysfunction, and more https://www.medrxiv.org/content/10.1101/2021.03.08.21252805v1.full.pdf #bioinformatics #iot #rstats #datascience #snrtg #immunology #genomics #raredisease https://t.co/E3iBGLQGME
@Primary_Immune 3 years ago
🧬 The power of immuno-genomics: A just-identified #PrimaryImmunodeficiency disorder enters medical literature https://www.biorxiv.org/content/10.1101/2021.02.22.432146v1.full.pdf #Bioinformatics #iot #datascience #bigdata #snrtg #technology #immunology #genomics #RareDisease https://t.co/zHRmXkY8sY
@Primary_Immune 3 years ago
. 🧬 A newly-identified Primary Immunodeficiency (+ autoimmune) disorder enters medical literature ...a sick infant diagnosed https://academic.oup.com/hmg/advance-article-abstract/doi/10.1093/hmg/ddab035/6124521?redirectedFrom=fulltext #100DaysOfCode #rstats #datascience #snrtg #PrimaryImmunodeficiency #bioinformatics #immunology #genomics #raredisease https://t.co/Baj7GQ7L7w
@Primary_Immune 3 years ago
A brand-new #PrimaryImmunodeficiency disorder enters medical literature *Phenotype: Natural Killer cells + CVID + autoimmunity https://bit.ly/3mORGBY #rstats #snrtg #autoimmune #datascience #scicomm #bioinformatics #immunology #genomics #raredisease https://t.co/WZCL8YqKHp
@Primary_Immune 3 years ago
🧬 The amazing marriage of #genomics & #immunology Almost 4⃣5⃣0⃣ distinct #PrimaryImmunodeficiency disorders described in medical literature...and counting https://www.sciencedirect.com/science/article/pii/S0021755720302187 #rstats #openscience #datascience #bioinformatics #technology #snrtg #raredisease https://t.co/g4gNSNO37B
@Primary_Immune 3 years ago
🧬 A never-before described #PrimaryImmunodeficiency causative mutation enters medical literature ...a magnificent walk-through of how it was accomplished https://www.karger.com/Article/Abstract/510062 #rstats #python #datascience #itrtg #immunology #genomics #bioinformatics #raredisease https://t.co/MBNdCxT5eL
@Primary_Immune 3 years ago
🧬 A never-before-seen #PrimaryImmunodeficiency mutation enters medical literature ...an elusive diagnosis for a sick Turkish girl https://link.springer.com/article/10.1007/s10875-020-00889-1 #openscience #technology #bigdata #bioinformatics #itrtg #immunology #genomics #raredisease https://t.co/xkuZBhmUtI
@Primary_Immune 3 years ago
Immunology matters Genomics matters Medical science Matters Rare Disease research matters LIFE MATTERS https://bit.ly/376ILqO #openscience #itrtg #scicomm #epilepsy #genomics #bioinformatics #DataScience #RareDisease #immunology https://t.co/eKZZijkPas
@Primary_Immune 3 years ago
A mysterious infectious disease leading to deadly swelling of the brain Now medical detectives have their pathogen _News: https://www.publichealth.columbia.edu/public-health-now/news/scientists-discover-bacterium-linked-deadly-childhood-disorder #openscience #rstats #datascience #itrtg _Journal: https://stm.sciencemag.org/content/12/563/eaba0565 #immunology #bioinformatics #genomics #raredisease https://t.co/2dG70igHwZ
@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
. Dysfunctional "natural-killer" cells ...as a newly-identified #PrimaryImmunodeficiency disorder enters medical literature https://www.jci.org/articles/view/134966/pdf #bioinformatics; single cell #technology #iot #genomics #snrtg #bigdata #immunology #raredisease https://t.co/efQi6TB7ZN
@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
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
@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
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
. "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
@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 3 years ago
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
@arunprasad_p 3 years ago
Please contribute to novel medical research led by Prof @Julian_Gough team at @MRC_LMB @UKRI_News into phenotype prediction from raw DNA files: https://supfam.mrc-lmb.cam.ac.uk/SUPERFAMILY/23andMe #medicalresearch #Prediction #Bioinformatics #Genomics #sequencing #dna #Health #COVIDー19 #DataScience https://t.co/H16B1nTiTQ
@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 3 years ago
EUREKA❗️ - always an occasion when never before identified immune-cells enter medical literature... _News: https://medicalxpress.com/news/2020-04-immune-cell-breast-ducts.html #rstats #linux #bigdata #snrtg #iot #scicomm _Journal: https://www.nature.com/articles/s41556-020-0505-0 #breastcancer #microscopy #immunology #genomics #RareDisease https://t.co/itB975CFwZ
@Primary_Immune 3 years ago
A pretty good week for #PrimaryImmunodeficiency research - genomic science solves a decades-long medical mystery - a never before identified STAT1 mutation decoded https://www.frontiersin.org/articles/10.3389/fimmu.2020.00967/abstract #scicomm #iot #rstats #bigdata #genomics #immunology #raredisease https://t.co/7RFDy5m8lP
@Primary_Immune 4 years ago
Genomic screening of pediatric #sepsis patients in the search for underlying #PrimaryImmunodeficiency disorders ...intriguing immunological / medical detectivism https://academic.oup.com/cid/advance-article/doi/10.1093/cid/ciaa290/5809292 #linux #rstats #technology #snrtg #iot #bigdata #hematology #immunology #genomics #raredisease https://t.co/zq5SiF7SpV
@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
A tragic medical mystery solved... -the power and transformational potential of the "genomic autopsy" demonstrated _News: https://edition.cnn.com/2020/01/16/health/amish-children-sudden-deaths-mystery-trnd/index.html #iot #bigdata #itrtg #technology #meded #scicomm _Journal: https://jamanetwork.com/journals/jamacardiology/article-abstract/2758306 #cardiology #genomics #RareDisease https://t.co/OC0oYgVNkT
@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
Nice to see the very 1st in-print mention in a medical journal that the number of known #PrimaryImmunodeficiency disorders has surpassed 4⃣0⃣0⃣ -though speculated for months, I'll take this as official confirmation #iot #rstats #itrtg #Bigdata #genomics #immunology #raredisease https://t.co/srT9wYbOeu
@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
@savanamedica 4 years ago
Yesterday our founder @ihmedrano talked about the link between AI, #MachineLearning, use of data & its applications to #genomics and medical practice at the @WEAHSN Genomics & the #FutureofCare meeting in Bristol, UK. @sw_ahsn https://t.co/QbMcnd9zqA
@Primary_Immune 4 years ago
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
@Primary_Immune 4 years ago
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
@Primary_Immune 4 years ago
A new #PrimaryImmunodeficiency disorder enters medical literature -brings new insight into cell metabolism & inflammatory processes #MedEd #immunology News: https://www.sciencedaily.com/releases/2019/09/190916114022.htm #SciComm #technology #SNRTG -Journal: https://www.nature.com/articles/s41590-019-0482-2 #genomics #RareDisease #BigData #IoT https://t.co/SXYM7tmlsQ
@Primary_Immune 4 years ago
ICYMI - "AFM," a rare polio-like, paralyzing illness has been one of the biggest medical mysteries of this decade. -Today, a likely culprit identified - https://mbio.asm.org/content/mbio/10/4/e01903-19.full.pdf #ITRTG #GlobalHealth #PublicHealth #genomics #MedEd #SciComm #InfectiousDiseases #RareDisease #BigData https://t.co/WVeLkl6J3W