Janet Markle

Scientist interested in genetic determinants of immunity, primary immune deficiencies, gene/environment interactions. Views are my own.

[Janet Markle @JanetMarkle]

Finally I wanted to share a story lead by @DrSagar_Bhattad and colleagues and @VUmedicine student Michael Libre reporting infantile IBD as the presenting symptom of dysbindin deficiency https://t.co/4x9fttY32H

[Janet Markle @JanetMarkle]

We've also recently published on the clinical and immunological impacts of a novel CTLA4 mutation in a large kindred. Led by @jimmy_maiarana, our multi-talented R38 resident https://t.co/wZMU6RFUK5

[Janet Markle @JanetMarkle]

Some new work from our lab: We report a novel founder mutation in an isolated population resulting in IL10RB deficiency. This work was lead by @Zhiming_Mao, @mjbetti and also included our 2 undergrads, Shamel Basaria and Kathy Liu https://t.co/OW3WL7kr03

[seth masters @sethmasters]

Monogenic autoinflammatory diseases tended to be defined by specific cytokines, such as IL-1b, IL-6, TNF and type I IFN. However, the condition APLAID did not fit, and instead we find that it may be the first of a new category that are caused by G-CSF. https://t.co/1Gf6VIGWVT

[Jeffrey Modell Foundation (JMF) @Info4PI]

A #RareDisease is a disease or condition that affects a small number of people. But, when you look at the big picture, #RareDiseases aren’t so #rare: there are 7,000 rare diseases that impact 300M people 🌍 Learn more before #RareDiseaseDay on 2/28 at https://t.co/iVM4NB4pcw 🧬

[Janet Markle @JanetMarkle]

@UtzschneiderD A ~5% success rate is sooo dismal. Sorry to hear that. I’m struggling with how much time I spend on grants for competitions that I know have only a 10-15% success rate. Cutting that rate in half is just disheartening.

[Janet Markle @JanetMarkle]

Recent PhD grads and postdocs looking for a job in industry: a friend is recruiting for this role in Palo Alto CA. Discovery and development of therapies for chronic inflammation. Check it out! https://t.co/0KW5Ozo8hF

[Janet Markle @JanetMarkle]

Looking forward to seeing my immunology colleagues and hearing these great keynote talks! Registrations are now live for the Southeastern Immunology Symposium

[Denis Wirtz @deniswirtz]

UPDATED: our massive database of PhD fellowships is available for download.

We list 195 different fellowships with description of the award, eligibility criteria, deadline and amount.

Download for free here: https://t.co/1h76jJaHOv

[Jeffrey Modell Foundation (JMF) @Info4PI]

After a grueling diagnostic odyssey - a familiar quest for people living with #RareDisease - Beverly found she has a novel genetic mutation causing a rare Primary Immunodeficiency (PI). Read about her journey to figure out her mysterious illness in this article from @NewYorker.

[Stuart Tangye @stutangye]

This is a terrifically written personal account of being affected by a rare genetic disease. This is what drives me to work on inborn errors of immunity. Hoping to solve med mysteries & help patients

Nobody Has My Condition But Me | The New Yorker https://t.co/3u7sZBfn16

[Janet Markle @JanetMarkle]

Another cool new story from the @JeffRathmell lab - overlap between IEI and IEM assessed through CRISPR screening of T cells

[Jeff Rathmell @JeffRathmell]

Great work by Andrew Patterson to show IEI & IEM share more than previously known--a CRISPR resource for new immunometabolic genes

Functional Overlap of Inborn Errors of Immunity and Metabolism Genes Define T Cell Immunometabolic Vulnerabilities https://t.co/7EdsoOOkfO

[Janet Markle @JanetMarkle]

Immunologists, consider this new Gordon Conf to present your science!

[Sabra Klein @sabraklein1998]

We are in the critical moment of trying to increase participation in the FIRST @GordonConf on sex differences in immunity. If you have data to share or want to learn more, register: https://t.co/8dzdA7FrFF @KleinLab @IghoID

[Ruben Martinez Barricarte @RMBarricarte]

Check out our latest article!!

[Janet Markle @JanetMarkle]

A novel IEI discovered in a collaborative effort spanning scientists from 5 continents, and including 6 unrelated families with the exact same mutation. Congrats ⁦@RMBarricarte⁩ and coauthors! https://t.co/MMTznW2POY

[Janet Markle @JanetMarkle]

Congrats 👏🏼👏🏼 @JeffRathmell @DoctorKvoss and colleagues! @VUMC_VCI @VUMCMolecPath

[Science Immunology @SciImmunology]

New work in mice, corroborated with observations of effector T cell behavior in patients with systemic lupus erythematosus, describes the significance of iron in immune cells during autoimmunity. @DoctorKvoss @JeffRathmell @VUMC_VCI https://t.co/JLUMi8kUoL

[Janet Markle @JanetMarkle]

Use of EMR-bio bank in Finland reveals some unappreciated gene dosage effects and suggests that some “benign” variants are not so benign after all.

[henrike heyne @HHeyne]

Hi all, very glad to announce our paper on “Mono- and biallelic variant effects on disease at biobank scale” is now finally published @nature in a set of 7 papers revealing scientific discoveries with @FinnGen_FI. https://t.co/FpDggPBKMG Read on for a twitter summary 1/8

[Janet Markle @JanetMarkle]

This may have interesting implications for understanding the ‘missing heritability’ in complex diseases. Mom-to-infant and cohabitation effects on microbiome composition. https://t.co/e8BDQLbGES

[Janet Markle @JanetMarkle]

Gotta respect the dedication required to carry out this 10yr experiment, which yielded some amazing results! T cells just keep going and going and going…

[Masopust Vezys Lab @Masopust_Vezys]

Authored by Andrew G. Soerens et al, we show that #Tcells are capable of proliferating in response to iterative stimulation for over 10yrs! And produce enough progeny to occupy a volume 30,000x the Earth's volume! @Nature https://t.co/jPfmX2Ilrq

[Janet Markle @JanetMarkle]

@CVimmunology @VUMC_Medicine @VUMCClinPharm @VUMC_heart Awesome Meena!