@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 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
🧬 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 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
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 4 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
@Primary_Immune 4 years ago
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
@Primary_Immune 4 years ago
Rare disease relevance and beyond in an insightful year-in-review genomics piece - "Research into genomic medicine implementation is moving forward briskly..." https://www.cell.com/ajhg/fulltext/S0002-9297(19)30427-6 #serverless #iot #SciComm #rstats #MedEd #OpenScience #ITRTG #BigData #genomics #RareDisease https://t.co/BqNp6jd2ki