Medical Technology

Current search: raredisease unset datascience

@Primary_Immune 1 year ago

🆕COVID-19 🦠in a large cohort of "Inborn Errors of Immunity" / Primary Immunodeficiency patients. - via NYC's Mount Sinai Medical Center 3% overall fatality-rate https://www.frontiersin.org/articles/10.3389/fimmu.2022.1035571/full #bioinformatics #scicomm #openscience #snrtg #datascience #iot #raredisease #immunology https://t.co/pq26puUWOM

@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

@RareRevolutionM 3 years ago

Are Patient registries the missing link in rare disease research? Find out more here: https://bit.ly/MENA-PatientRegistries #RareDisease #Research #PatientRegistries #Magazine #Medicine #Treatment #Data #DataScience #Tech https://t.co/Ck3u9QirUq

@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 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

@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

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 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 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

. 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

Just found the 2⃣4⃣th case in medical literature of a #PrimaryImmunodeficiency + #COVID19 patient happily shocked that this immunodeficient patient was asymptomatic https://www.researchsquare.com/article/rs-57542/v1 #iot #serverless #openscience #itrtg #rstats #datascience #immunology #raredisease https://t.co/wW8c4PeLrl

@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