#physicianscientist pediatric #neurology @BostonChildrens hospital
Boston, MA
Joined January 2012
- Tweets44
- Following240
- Followers136
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Diane Shao, MD, PhD retweeted
3 wunderkinds took the stage at #STATSummit to talk about their research
all doing potentially transformational research, they expressed concerned abt access to the fruits of their work — @SciFleur interviewed @jmartinrufino @_dianes_ & Ramisa Fariha
statnews.com/2024/10/16/stat…
I’m honored to be one of this year’s #STATWunderkind cohort! So appreciative of all the opportunities and mentors I’ve had along the way @ChrisAWalsh1 @BCH_PoduriLab @BCHNeuroRes.
Check out the other award winners at the link below!
The 2024 class of #STATWunderkinds has been announced!
Meet them all here: trib.al/4bORt1w
ALT A promotional graphic for STAT Wunderkinds reads "Announcing the 2024 Wunderkinds"
Diane Shao, MD, PhD retweeted
Members of this year's class @jmartinrufino, @_dianes_ and Ramisa Fariha joined @SciFleur on stage at #STATSummit.
ALT Jorge Diego Martin-Rufino, Diane Shao, and Ramisa Fariha on stage with STAT's Nicholas St. Fleur at STAT Summit.
Diane Shao, MD, PhD retweeted
With the first tweet of 2024, I am happy to announce that I am officially starting my lab @BWHNeurology next month: khoshkhoolab.com. We are recruiting at every level, but particularly looking for talented postdocs and a lab manager, please RT and spread the word.
Diane Shao, MD, PhD retweeted
Excited to share our preprint on brain mosaicism in sporadic amyotrophic lateral sclerosis (sALS) and frontotemporal dementia (sFTD) that implicates surprising mechanisms. biorxiv.org/content/10.1101/…. 1/10
Diane Shao, MD, PhD retweeted
A truly historic moment, first CRISPR therapy approved!
Key ingredients: astute clinical observation on HbF and SS (Janet Watson ca 1948), basic developmental biology, human genetics including GWAS for target ID, and of course CRISPR
gov.uk/government/news/mhra-…
Diane Shao, MD, PhD retweeted
Genotype before phenotype will become the norm.
Genomic testing is poised to have a role similar to EEG, MRI, and LP in the arsenal of a #ChildNeurologist.
A National Neurogenetics Curriculum is needed to prepare residents. #MedSocial30 #PECN #CNS @kuntal_sen_
Diane Shao, MD, PhD retweeted
Thrilled to see alums @_MikeLodato and @M_B_Miller recognized for their creativity and contribution!
I’m honored to be part of this amazing group of awardees of the @NIHDirector’s New Innovator Award. My lab and I are looking forward taking the next step in single cell analysis of the human brain!
Diane Shao, MD, PhD retweeted
(1/5) A new study from @BCH_PoduriLab focused on the diagnostic yield and clinical utility of genetic sequencing for patients with unexplained pediatric epilepsy. The study leveraged a prospectively ascertained, single-institution cohort of 522 (more now) children.
For some children with unexplained epilepsy, exome sequencing can help with precise diagnoses with direct clinical implications. ja.ma/3K5ZCNq
Shyam Akula in @ChrisAWalsh1 lab spearheaded this great work on novel genes implicated in polymicrogyria. It was such a pleasure working with the talented trainees and clinicians on this project! jamanetwork.com/journals/jam…
Diane Shao, MD, PhD retweeted
And also amazing work from @ViolinPlots @_dianes_ and others
Glad to share out latest work in @Dev_Cell today. Combining animal and organoid models, we show that KIF26A plays critical roles in numerous aspects of brain development, and KIF26A loss-of-function mutations cause brain malformations in patients.
sciencedirect.com/science/ar…
Diane Shao, MD, PhD retweeted
Our own Lacey Smith and colleagues have published the first practice guideline for genetic testing in the epilepsies. There are now formal recommendations that include broad-based testing for all individuals with unexplained epilepsy! Check it out here: doi.org/10.1002/jgc4.1646
Thanks @TheNewANA1 for such an amazing career development session. And nice photos at my poster!
We’ve got some wonderful discussions about groundbreaking research happening now at the ANA-NINDS poster reception. #ANA2022
Diane Shao, MD, PhD retweeted
Today, we’re introducing a new model that eliminates accept/reject decisions.
By publishing every paper with eLife reviews as a Reviewed Preprint, we plan to restore autonomy to authors, ensuring that they will be judged by what, not where, they publish. elifesciences.org/inside-eli…
Congrats @QianXuyu! Amazing work building our understanding of this new neurogenetic disorder authors.elsevier.com/sd/arti…
Diane Shao, MD, PhD retweeted
Congratulations Richard O. Hynes, Erkki Ruoslahti, and Timothy A. Springer, 2022 #LaskerAward winners! — “for discoveries concerning the #integrins—key mediators of cell-matrix and cell-cell adhesion in physiology and disease”.
@MIT @sbpdiscovery @harvardmed
#Lasker2022
Diane Shao, MD, PhD retweeted
Brigham, Children’s Hospital researchers find increased mutations in Alzheimer’s patient brain cells bostonglobe.com/2022/04/20/n… via @BostonGlobe
Needed to save this image! Beautiful curve showing initial COVID-19 infection rates are the same and the dramatic rate difference after vaccine (blue) compared to placebo (red). Y axis cumulative cases.
