Remarkable to see that our discoveries over 15 years ago would enable such tremendous advances for sickle cell disease and thalassemia!!! Incredible to think that the final sentence of our 2008 paper would be prophetic ()...
Delighted to have our paper, led by
@jmartinrufino
, on conducting massively parallel base editing screens in primary human hematopoietic cells out in
@CellCellPress
today. Can help improve therapeutic approaches for
#leukemia
and
#sicklecell
disease:
Interested in how cellular barcoding can help us better understand and treat human diseases?
Please check out this review from
@leonard_zon
,
@JswLab
, and I in
@ScienceMagazine
today:
Our review on how advances in
#genomics
have impacted our understanding of
#hematopoiesis
was published in
@CellCellPress
today. Grateful to the reviewers and editors for valuable guidance. We tried to cover a lot and apologize for all that we missed:
Incredibly honored to receive the 2022
@SocPedResearch
E Mead Johnson Award, which many of my mentors and heroes have been prior recipients of! This recognizes the incredible work of past and current lab members, as well as tremendous collaborators and colleagues! 🙏
Congratulations to Vijay Sankaran, MD, PhD, (
@bloodgenes
) on receiving the 2022 E. Mead Johnson Award from
@SocPedResearch
for his research using human genetic variation to advance our understanding of blood cell production!
Fantastic to have our paper "Deciphering cell states and genealogies of human hematopoiesis" published today in
@Nature
as an Accelerated Article Preview! We describe ReDeeM! Awesome work led by
@chenweng1991
in a wonderful collaboration with
@JswLab
!
Wonderful to have our paper, "Inherited blood cancer predisposition through altered transcription elongation", published (open access) in
@CellCellPress
today!
🧵 (1/n)
Really delighted to have our paper led by
@ZHAOJiawei9
showing how human hematopoietic stem cells are vulnerable to ferroptosis published in
@CellCellPress
:
🙏 to our awesome reviewers and editor for helping us improve this work significantly!
Are you interested in how we can learn more human biology by integrating
#singlecell
genomics and
#GWAS
?
Please check out our preprint:
#V2F
mapping at single-cell resolution through network propagation
Led by
@fulong_yu
! A short 🧵 (1/n)
Incredibly honored to receive the Lodish Family Chair from
@BostonChildrens
! Would not have been possible without the many tremendous trainees, colleagues, and mentors that I have been fortunate to work with! Particularly meaningful that this was given by Pam and Harvey Lodish!
Congratulations to Vijay Sankaran, MD, PhD, who was named the inaugural recipient of the Lodish Family Career Development Chair at
@BostonChildrens
last month. Learn more about
@bloodgenes
on our website:
Really grateful that
@ASH_hematology
has set up such a fantastic hybrid meeting for
#ASH21
, so that we can enjoy this great meeting, even if we are at home!
Wonderful to have our paper 'Deciphering cell states and genealogies of human haematopoiesis' led by
@chenweng1991
, in a great collaboration with
@JswLab
, published today in
@Nature
:
Wonderful to have our paper on a MECOM-regulated gene network in human hematopoietic stem cell maintenance and leukemia published in
@NatImmunol
! Terrific work from our group led by
@RichardVoit
,
@Taoliming
, and
@fulong_yu
:
Fortunate to be able to spend such a wonderful evening with close friends, mentors, and colleagues, including several generations of Boston hematology!
Wonderful to have our work on using genome editing in single cells to better understand hemoglobin switching published in
@NatureComms
today. Terrific work by Yong Shen,
@JeffreyVerboon
, and colleagues from the
@JianXuLab
and Orkin labs:
👇Short thread
Very exciting to see these 2 papers in the
@NEJM
today demonstrating successful targeting of BCL11A to induce fetal hemoglobin to treat
#SickleCell
disease based off of our fundamental mechanistic studies over a decade ago!
To maintain lifelong blood production, hematopoietic stem cells have a number of adaptations. What is the impact? We have studied a rare disease to identify one resultant liability: ferroptosis
Pre-print: Human HSC vulnerability to ferroptosis
🧵
Delighted to have our work on the role of LIN28B in regulating hemoglobin switching by impacting BCL11A translation published in
@NatureGenet
!:
Here is a brief tweetorial of this work from Anindita Basak,
@M_Munschauer
,
@CalebLareau
, and others (1/n)
Deeply saddened that Sir David Weatherall, who had a profound influence on me starting from when I was a medical student, passed away today. He was the quintessential physician-scientist and his work will continue to have an enormous influence on science and medicine.
Today is erythropoiesis day at
@BloodJournal
!
Our review on erythropoiesis is out: (w/ accompanying excellent reviews from Semenza and Cazzola)
Our new GATA1 mutant paper is also out: (w/ great preview: )
Delighted to have this wonderful work led by
@erik_bao
,
@neuron81
, and
@xiaotianliao
in our laboratory, along with numerous colleagues published in
@nature
today! Grateful to the reviewers and editors for all of their guidance and feedback!
Now online
@nature
! Myeloproliferative neoplasms have one of the highest familial risks among cancers, but what drives this? Biobank-level GWAS and functional analyses implicate HSC function. Huge team effort w/
@neuron81
,
@xiaotianliao
,
@bloodgenes
1/n
We know that fetal hemoglobin is an important modifier of sickle cell disease and thalassemia.
How is it regulated?
Please check out our preprint: "Genetic regulation of HbF across global populations" by
@liamcato
,
#RickLi
,
@realHenryLu
, & co:
🧵
Delighted to have our work on massively parallel single-cell mitochondrial genotyping and chromatin profiling, led by
@CalebLareau
and
@LeifLudwig
in our laboratory, in a wonderful collaboration with Aviv Regev, published in
@NatureBiotech
:
Our report on leukemia predisposition with germline GATA1 mutations that cause Diamond-Blackfan Anemia is out in
@BloodJournal
:
Adds to the recent fascinating findings from
@Elvin_Wag
& co published in
@ScienceMagazine
:
We all have a low level of circulating CD34+ progenitor cells in our blood. But what underlies variation in amount of such cells? Delighted to contribute to this study from Nilsson and colleagues to define genetic variation underlying CD34 %:
Incredibly honored to receive the 2019 Seldin-Smith Award from
@the_asci
!!! The credit really goes to the amazing trainees in the lab I am fortunate to work with, the fantastic colleagues I am lucky to have, and all of my incredible mentors over the years!
A few years ago, we found a pathogenic EPO mutant that was studied in this
@CellCellPress
paper:
Now we are delighted to report that the patient is doing terrific with recombinant EPO tx for > 4 years in this
@MedCellPress
paper:
For those interested in the challenge of going from variant-to-function from
#GWAS
results or in understanding human hematopoiesis, please check out this review in
@TrendsGenetics
by
@neuron81
and
@Xiaotianliao
from our group:
Such an exciting time: work we began over a decade ago to understand the fundamental biology of hemoglobin switching, which highlighted BCL11A, has now led to multiple promising therapeutic avenues for
#SickleCell
and
#Thalassemia
!
@DFBC_PedCare
#ASH19
Here comes another interesting early data for targeting BCL11A in
#SickleCell
…
$BLUE Lentiviral vector encoding shRNA
vs.
$CRSP $VRTX
#CRISPR
/Cas9 Gene editing
Which approach will be better for SCD?
Wow! Learning so much about mutagenesis in hematopoietic stem cells today... Great work from
@imartincorena
and colleagues from
@sangerinstitute
in
@nature
showing how most mutations in blood cells arise in HSCs with single molecule mutation profiling:
So proud of
@LeifLudwig
from our group, who will be starting as a group leader in the coming weeks in Berlin at the
@BIMSB_MDC
/
@MDC_Berlin
/
@ChariteBerlin
!!!
Congratulations, Leif!!! So fortunate to be able to work with amazing people like you!
Delighted to see this terrific work from
@CalebLareau
and
@LeifLudwig
in our group showing how mitochondrial mutations can be used to track clonal mosaicism longitudinally in human hematopoietic cells (in bulk) published in
@BloodAdvances
:
Incredibly gratifying to see the work that we started many years ago, which led to our discovery of BCL11A in hemoglobin switching, now result in curative therapies for sickle cell disease!!! Has taken a considerable effort by many translational colleagues from
@ChildCancerCare
!
Sickle cell disease affects 100,000 Americans but never gets adequate attention or funding because for genetic reasons it disproportionately affects blacks. Now, finally, there are breakthroughs with gene therapy:
Congratulations,
@KathleenHBurns
!!! So excited to hear that you will be joining the
@DanaFarber
and
@BrighamWomens
as Chair of the Department of Oncologic Pathology! Wonderful news and will be terrific to have you in Boston!
It is a testament to incredible fundamental and translational science that within a year of the
#SARSCoV2
virus being identified to cause
#COVID19
, a
#vaccine
was developed! Grateful to receive the first dose to protect my patients, colleagues, friends, and family!
#CovidVaccine
Our paper on how ribosome levels affect lineage commitment during human hematopoiesis from
@RajKhajur
and colleagues (including
@julirsch
) is out in
@CellCellPress
: (1/n)
Fantastic to have our paper on transcriptional and chromatin states in human erythropoiesis led by
@LeifLudwig
&
@CalebLareau
with other colleagues in our group and collaborators published in
@CellReports
today:
Delighted to see this fantastic work led by
@LWahlster
and
@JeffreyVerboon
identifying a new cause of ANKRD26 related thrombocytopenia due to a complex structural variant published in
@JExpMed
(open access): (1/n)
@CRISPRchef
And in that very same issue of
@ScienceMagazine
12 years ago, we identified BCL11A as a regulator of fetal hemoglobin, which has become a key initial target. Little did we know how these and other advances would push forward this basic science discovery. Pretty amazing!
Fascinating pre-print in
@biorxivpreprint
on hematopoiesis in long-lived naked-mole rats:
More quiescent HSCs than in mice and no sign of some key hematopoietic TFs like RUNX1, GFI1B, GFI1, etc.
So thrilled to learn that
@erik_bao
from our group received the 2021 Seidman Prize for Outstanding
@mit_hst
M.D. Student Thesis, named in honor of two people I admire tremendously: Kricket and Jon Seidman. So well deserved! Congratulations, Erik!!!
How can we go from variant to function for
#GWAS
? Gene-centric functional screens may be one potentially valuable approach (here for human
#hematopoiesis
)! Proud of this work led by
@neuron81
and Sean McFarland, as well as other colleagues in
@eLife
:
Thank you! An incredible honor to receive the
#SeldinSmithAward
this year and so wonderful to have an introduction by my mentor, David Nathan!
#JointMeeting2019
Sad to miss this in person, but absolutely wonderful to see my mentor Harvey Lodish receive the
#ASH21
Wallace H. Coulter Award for Lifetime Achievement in Hematology from
@ASH_hematology
! So incredibly well deserved! Fortunate to have met Harvey 15 years ago!
Incredibly fortunate to work with this tremendous, fun, and diverse group of individuals (and a few others who could not join us) in our lab! Excited for all that we will do together in 2023!
Excited to have our preprint out in
@biorxivpreprint
showing how genetic predisposition for acquiring MPNs modulates hematopoietic stem cell function. Terrific work led by
@erik_bao
,
@neuron81
,
@Xiaotianliao
, and other fantastic colleagues:
Delighted to have our study showing how CDC42 dysfunction can cause myelofibrosis published! Terrific work led by
@JeffreyVerboon
and Dilnar Mahmut in our group, along with great collaborators:
I am incredibly fortunate to work with this incredible group (+ a few awesome folks, who could not join us)! As adept on the rock wall as they are at generating and analyzing genomic and functional data!
Incredibly delighted that
@jmartinrufino
and Soumyaa Mazumder from our lab both matched for their pediatrics residencies at the Boston Combined Residency Program (
#BCRP
) at
@BostonChildrens
and
@The_BMC
!!! Congratulations!!! The future of pediatrics (+ heme/onc) is very bright!!
Truly honored to have received the 2018
#DrukierPrize
in Children's Health Research today at
@WeillCornell
! Had an absolutely wonderful experience in NY today! I am grateful to the Selection Committee, the Drukier family, and the amazing people at
@WeillCornell
!
Amazing study in
@nature
from
@jacob_hanna
and colleagues showing ex vivo development of mouse embryos from E5.5 through E11! I wonder if HSCs have started to form in the AGM at the end of this ex vivo period:
Grateful to the fantastic editors at the
@BostonGlobe
and
@GlobeIdeas
for giving my much better half and I the opportunity to write this op-ed:
Can we prevent childhood cancer?
Fantastic day kayaking on the Charles River! I am very lucky to work with this incredible group (and some other awesome folks who were unable to join)!
Fortunate to work with fantastic trainees and staff in our
@DFBC_PedCare
program, as we care for our patients with blood disorders, including observing the many hematologic manifestations of
#COVID19
!
Thank you,
@EricTopol
!!! I am incredibly fortunate for all the opportunities I have had to be inspired by patients, trainees, colleagues, and mentors over the years!
An important perspective on saving the endangered physician-scientist in
@NEJM
:
I am shocked that only ~1.5% of physicians in the workforce are physician-scientists!
Excited to have this terrific study -
#V2F
mapping at
#SingleCell
resolution through network propagation - led by
@fulong_yu
along with a fantastic team published in
@NatureBiotech
:
🙏 Editors/ Reviewers for valuable comments that improved this work
Are you interested in how we can learn more human biology by integrating
#singlecell
genomics and
#GWAS
?
Please check out our preprint:
#V2F
mapping at single-cell resolution through network propagation
Led by
@fulong_yu
! A short 🧵 (1/n)
Very delighted to share our work Deciphering cell states and genealogies of human hematopoiesis online today in
@Nature
(Accelerated Preview version). It is a really great collaboration of Weissman lab
@JswLab
and Sankaran lab
@bloodgenes
🧵(1/n)
Bravo
@AlbaRMeira
from
@AdamMead_Oxford
laboratory!!! Terrific talk at
#ASH21
plenary revealing how
#singlecell
multi-omic analyses can reveal how inflammatory interferon signaling can drive TP53 mutant clone expansion in the progression of MPNs to AML!
Excited to take part in this upcoming
@NatureGenet
webcast with Kristen Brennand and Catherine Potenski on the challenges of going from Variant to Function! Please join us if you are interested in these approaches!
#GWAS
#genetics
#Genomics
A bit delayed, but terrific to have our paper from Yong Shen and colleagues examining the functional consequences of BCL11A missense variants on fetal hemoglobin silencing published in
@PLOSGenetics
:
Incredibly proud of postdoctoral fellow
@neuron81
from our group who is becoming an Assistant Professor of Cell Biology at
@EinsteinMed
and
@ae_cancercenter
this fall! Congratulations, Satish!!! Can't wait to see the exciting things that will come from the Nandakumar Lab!
#newPI
Delighted to have made it to Toronto (after a bit of a delay) and excited to visit
@pmcancercentre
@UHN
tomorrow! Wonderful dinner at Canoe Restaurant with a birds-eye city view with John Dick, Gordon Keller, and Steve Chan! 🙏
@stephxie
!
Congratulations to
@CalebLareau
for an awesome defense!!! Looking forward to having you for a couple of more months here in Boston before you head to Palo Alto! 😀
Could gene-centic functional screens be valuable for functional follow up of
#GWAS
results, in addition to the numerous variant-centric approaches being employed? Our preprint applying this approach for blood trait GWAS is posted: (1/2)
Enjoyed writing an "In Translation" preview with
@la_liggett
and Richard Voit of this terrific article from
@AyalaTovy
,
@Goodell_Lab
, and colleagues in
@CellStemCell
:
Here is our preview - Sowing the Seeds of Clonal Hematopoiesis:
Amazing to think that just 10 years ago I was here at ASH presenting the BCL11A shRNA experiment in vitro showing great HbF induction and now David Williams and colleagues from
@ChildCancerCare
have done this in vivo!
#ASH18
Terrific to write this preview in
@CellCellPress
with Samantha Joubran on an outstanding paper describing the structure of the THPO-MPL complex and its role in hematopoiesis from the Garcia lab:
Awesome to see the tremendous progress in translating our observations on the role of BCL11A in hemoglobin switching to therapy for
#SickleCell
disease!
#ASH20
Hopefully we can continue to use human genetics and
#V2F
efforts to identify more therapies to help our patients!
Preliminary but ‘nothing short of great.’ New data on CRISPR treatment for blood diseases suggest cure is possible Biggest story of
#ASH20
. Free for all to read!