@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 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
. "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
A table summary of: -Dx and symptoms -Rx/Tx protocols -mortality vs survival of the 7 latest #PrimaryImmunodeficiency patients with COVID-19 in medical literature (from last article in tweet thread #iot #rstats #linux #bigdata #Covid_19 #covid19 #immunology #raredisease https://t.co/6elVJSYxeJ
@Primary_Immune 3 years ago
Thread UPDATE: 7 additional #PrimaryImmunodeficiency patients diagnosed with #COVID19 described in medical literature *The paper ➡️ https://www.sciencedirect.com/science/article/pii/S0091674920305571 #linux #technology #iot #rstats #COVID__19 #bigdata #immunology #CVID #raredisease https://t.co/fFyZQVqWOC
@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 6 years ago
Brave, Pioneering Patients Advance Medicine: Thank YOU @christiansings for Paving the Way for Others! #SNRTG #OpenScience #RareDisease #GeneTherapy #blindness #BigData #DataScience #genomics #science #technology #tech #genetics #ITRTG #INSPIRATION! https://t.co/ZXwvWpAMmF
@Primary_Immune1 6 years ago
#RareDisease Patients at the Heart of Medical Research http://nymag.com/scienceofus/2017/07/genetic-testing-mutation-uncertainty.html #BRCA #BreastCancer #genomics #tech #SNRTG #genetics #BigData https://t.co/e2R65WtYT6