Heidi Rehm@HeidiRehm

Currently inactive due to ownership of platform. Rare disease researcher and clinical lab director; MGH and @broadinstitute

 Boston, MA, USA
rehmlab.org
Joined June 2011
54 Photos and videos
The #ClinGen expert curation ecosystem enables the global dissemination of evidence-based #genomics support resources bit.ly/3Vg9Hgj #clincalgenetics #datasharing @splon @HeidiRehm @ClinGenResource
Screenshot of Figure 1: The ClinGen expert curation ecosystem has developed into a uniquely synergistic andsupported global system. The green outer semicircle represents the foundational infrastructure of the consortium, including standards and frameworks, databases, tools, and curation interfaces to support standardized ClinGen curation. This enables the dissemination of ClinGen expert-curated knowledge to the public via the website and knowledgebases. The blue inner semicircle represents the ClinGen leadership and personnel who ensure high-quality curation through the consistent integration of and communication with the Expert Panels and providing ongoing support and intensive training and guidance. The cornerstone of ClinGen is its international network of global experts and biocurators who contribute to the creation of the curation work products to advance genomic medicine.

ALT Screenshot of Figure 1: The ClinGen expert curation ecosystem has developed into a uniquely synergistic andsupported global system. The green outer semicircle represents the foundational infrastructure of the consortium, including standards and frameworks, databases, tools, and curation interfaces to support standardized ClinGen curation. This enables the dissemination of ClinGen expert-curated knowledge to the public via the website and knowledgebases. The blue inner semicircle represents the ClinGen leadership and personnel who ensure high-quality curation through the consistent integration of and communication with the Expert Panels and providing ongoing support and intensive training and guidance. The cornerstone of ClinGen is its international network of global experts and biocurators who contribute to the creation of the curation work products to advance genomic medicine.

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We are delighted to announce this year's call for applications for the NHGRI-funded MGB T32 Postdoctoral Training Program in Precision and Genomic Medicine buff.ly/414Xajk Please RT or share w/ those who may be interested.
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Heidi Rehm retweeted
GA4GH@GA4GH
25 Nov 2024
🔥 Fireside Chat happening now! We're on Zoom with Bartha Knoppers of McGill University and Gerardo Jiménez-Sánchez of Genómica Médica in conversation about Dr. Jiménez-Sánchez career and contributions to the field of genomics. Please join us! Join here: hubs.li/Q02ZlnHd0
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I know many of you have been awaiting us launching transcript expression data in gnomAD. We were waiting for the GTEx v10 release which is now out so we are finally able to launch this. Enjoy!!
Genome Aggregation Database@gnomad_project
22 Nov 2024
Proportion expressed across transcripts (pext), using GTEx v10, is now available on #gnomAD v4!
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Just started using Buffer to simultaneously post on @bsky.app, LinkedIn, and X/Twitter as I make my gradual shift away from the toxic and biased world of X....
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Forthcoming guidance will recommend labs report VUS subclasses. We share experience of 4 labs including rates of reclassification of VUS subclasses. By highlighting VUS-high and downplaying VUS-low, this will be game-changing for dx genetic testing. buff.ly/3Cpx5RL
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GA4GH@GA4GH
8 Nov 2024
📝The Health Data Sharing, Privacy, and Regulatory Forum — formerly known as the GDPR & International Health Data Sharing Forum — publishes Policy Briefs on emerging and relevant health data sharing policy topics. Read this month's policy brief: bit.ly/4fDhlJn
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ChrisAWalsh@ChrisAWalsh1
23 Oct 2024
Great stuff from @AnneOtation and @VGaneshMDPhD and others!
NEJM
@NEJM
23 Oct 2024
Deletions in a gene (𝘊𝘏𝘈𝘚𝘌𝘙𝘙) that encodes a long noncoding RNA cause severe developmental delay and an increase in expression of a neighboring gene, 𝘊𝘏𝘋2. Read the Brief Report: nej.md/48gS1WY
Brief Report: Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene Facial features and findings on MRI of the brain in a child with CHASERR haploinsufficiency.

ALT Brief Report: Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene Facial features and findings on MRI of the brain in a child with CHASERR haploinsufficiency.
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See our paper in GIM here. If you publish on variants, PLEASE use variantvalidator.org/, or even better, just submit them to ClinVar before article submission (you can request a 6 month embargo), to both validate your variant naming AND make them findable by all!
Genetics in Medicine@GIMJournal
9 Oct 2024
GIM's Senior Technical Editor Peter Freeman collaborated with other experts on "Standardizing variant naming in literature with VariantValidator to increase diagnostic rates", now available in Nature Genetics bit.ly/3BF83On
Screenshot of article header that reads: Standardizing variant naming in literature with VariantValidator to increase diagnostic rates Peter J. Freeman, John F. Wagstaff, Ivo F. A. C. Fokkema, Garry R. Cutting, Heidi L. Rehm, Angela C. Davies, Johan T. den Dunnen, Liam J. Gretton & Raymond Dalgleish Accurate naming of genetic variants is essential to identify clinical data that interpret the consequences of such variants. In partnership with the Human Genome Organization, we advocate for integration of VariantValidator in publishing of journals and databases, to improve the quality of shared genetic data and ultimately patient outcomes.

ALT Screenshot of article header that reads: Standardizing variant naming in literature with VariantValidator to increase diagnostic rates Peter J. Freeman, John F. Wagstaff, Ivo F. A. C. Fokkema, Garry R. Cutting, Heidi L. Rehm, Angela C. Davies, Johan T. den Dunnen, Liam J. Gretton & Raymond Dalgleish Accurate naming of genetic variants is essential to identify clinical data that interpret the consequences of such variants. In partnership with the Human Genome Organization, we advocate for integration of VariantValidator in publishing of journals and databases, to improve the quality of shared genetic data and ultimately patient outcomes.

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It’s great to have these more refined allele frequencies from the African/AA population represented in gnomAD. Thank you team!!
Elizabeth Atkinson@egatkinson
16 Oct 2024
I'm excited to announce that we have generated local ancestry informed allele frequencies for the inferred African/African American genetic ancestry group of gnomAD v4.0, live now on the browser! gnomad.broadinstitute.org/ne…
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Heidi Rehm retweeted
ClinGen@ClinGenResource
15 Oct 2024
Available today in @GIMJournal, a special article from @ClinGenResource “The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation” sciencedirect.com/science/ar… (1/n)
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Nicky Mulder@Nicky_Mulder
9 Oct 2024
I am pleased to announce the establishment of an African Bioinformatics Institute thanks to funding from Wellcome Trust and CZI. We seek stakeholder input to shape the ABI to meet the needs of the bioinformatics and user communities. Join us for engagement sessions to contribute.
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CGM at MGB@CGM_MGH
7 Oct 2024
The deadline to apply for a full time faculty position in Neurogenetics at the @CGM_MGH and @MGHNeurology is October 15th! Send your application in to be considered.
CGM at MGB@CGM_MGH
10 Jul 2024
@CGM_MGH and @MGHNeurology are seeking applications for a full-time CGM faculty member with an assistant or associate professor of neurology appointment at @harvardmed! loom.ly/GbLy26E
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Terrific #WMIF2024 panel discussion on 'Earliest Detection' chaired by @JimBrinkMD & D. Louis (@MassGenBrigham Radiology & Pathology Enterprise Chiefs, respectively) toward ambitious primary prevention across neurologic, CV, & genetic disease
Brigham and Women's Neurology@BWHNeurology
24 Sep 2024
Jasmeer Chhatwal and Yakeel Quiroz join a panel on Earliest Detection during #WMIF2024 @ytquiroz
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A wonderful meeting with so many folks dedicated to advancing genomics through collaboration and open data sharing.
GA4GH@GA4GH
20 Sep 2024
GA4GH 12th Plenary 🤩 🇦🇺: Melbourne, Australia and online 👥: 650 registrants 🌐: 44 countries 💼: 3 meetings, 65 sessions Big thanks to our co-host, @AusGenomics 🤝 🇸🇪: 13th Plenary will be in Uppsala, Sweden Read the full Plenary recap here: hubs.li/Q02QxcQt0
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What a delight to be kicking off our inaugural @OurDNA_program symposium in Melbourne with a keynote from @HeidiRehm discussing global collaborative networks underpinning genomic medicine. Thanks to @AusGenomics and @GA4GH for making this day possible!
Heidi Rehm presenting to a big crown of genomics enthusiasts

ALT Heidi Rehm presenting to a big crown of genomics enthusiasts

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GA4GH@GA4GH
16 Sep 2024
Welcome to GA4GH 12th Plenary! This week, we are gathering to advance responsible sharing of genomic and related health data, for the benefit of human health. Learn how you can participate this week, from wherever you are located: bit.ly/4e5Hlg1
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As part of @GREGoR_research , we are excited to announce new guidance to encourage clinical labs to report novel candidate genes during clinical testing. We give criteria for triaging, sharing, and reporting novel genes through various methods. authors.elsevier.com/c/1jcDA…
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GA4GH@GA4GH
16 Aug 2024
GA4GH 12th Plenary is next month! 🎉 You can now register for virtual participation. In-person registration ends 2 September. #joinus Register here: bit.ly/3yRSRMB
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Wonderful news!!! Congrats @aaronquinlan
Aaron Quinlan@aaronquinlan
14 Aug 2024
When I started grad school in 2004, I never could have imagined I would write the following sentence. I am honored and thrilled to be the Chairperson of Human Genetics @UUtah! I look forward to future excellence w/ current & new scientists in our amazing department. Stay tuned!
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