Janet Markle
@JanetMarkle
Followers
446
Following
333
Media
6
Statuses
156
Scientist interested in genetic determinants of immunity, primary immune deficiencies, gene/environment interactions. Views are my own.
Joined October 2018
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
pubmed.ncbi.nlm.nih.gov
Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of autosomal recessive genetic disorders characterized by oculocutaneous albinism, bleeding diathesis, and variable presentation of immune...
0
1
22
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
onlinelibrary.wiley.com
Click on the article title to read more.
0
7
22
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
2
8
31
RT @sethmasters: Monogenic autoinflammatory diseases tended to be defined by specific cytokines, such as IL-1b, IL-6, TNF and type I IFN. H….
0
24
0
RT @Info4PI: A #RareDisease is a disease or condition that affects a small number of people. But, when you look at the big picture, #RareDi….
0
6
0
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!
jobs.aai.org
A new
0
1
9
Looking forward to seeing my immunology colleagues and hearing these great keynote talks! Registrations are now live for the Southeastern Immunology Symposium.
0
0
6
RT @deniswirtz: UPDATED: our massive database of PhD fellowships is available for download. We list 195 different fellowships with descri….
0
1K
0
RT @Info4PI: After a grueling diagnostic odyssey - a familiar quest for people living with #RareDisease - Beverly found she has a novel gen….
0
1
0
RT @stutangye: This is a terrifically written personal account of being affected by a rare genetic disease. This is what drives me to work….
newyorker.com
Medical researchers find my genetic mutation endlessly fascinating. But being unique isn’t a plus when you’re a patient.
0
4
0
Another cool new story from the @JeffRathmell lab - overlap between IEI and IEM assessed through CRISPR screening of T cells.
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
0
0
2
Immunologists, consider this new Gordon Conf to present your science!.
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: @KleinLab @IghoID
0
0
5
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!
news.vumc.org
An international consortium co-led by Vanderbilt's Rubén Martínez-Barricarte, PhD, has discovered a new genetic disorder that causes immunodeficiency and profound susceptibility to opportunistic...
7
11
61
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
1
0
7
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.
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. Read on for a twitter summary 1/8.
0
0
1
This may have interesting implications for understanding the ‘missing heritability’ in complex diseases. Mom-to-infant and cohabitation effects on microbiome composition.
flip.it
The human microbiome is an integral component of the human body and a co-determinant of several health conditions. However, the extent to which interpersonal relations shape the individual genetic …
0
2
7
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….
0
1
11
Very proud of Deb, PhD student in my lab and recipient of a 2nd percentile score on her F31!! Amazing result and very gratifying to see how much this proposal improved - revise revise revise and don’t give up!
10
1
95
RT @DonaldVinh: FluWatch: 🇨🇦has crossed 5% positivity rate for flu. If it's 5% or higher next week, the flu epidemic will be formally decla….
0
41
0