Ash Marwaha
@drashm2.bsky.social
Clinical Medical Geneticist 🇨🇦, immunogenetics, #T1D polygenic risk. #raredisease clinical trials.
ATTN graduating Genetic Counsellors/unhappy US GCs- I'm hiring for a 4 year research GC to develop a genetic counseling approach for genetic risk scores in Type 1 Diabetes as a pilot project in newborn screening in Canada. Relocate to Calgary! #genechat
careers.ucalgary.ca/jobs/1644495...
careers.ucalgary.ca/jobs/1644495...
Research Genetic Counsellor, Medical Genetics in
Calgary,
AB,
...
Research Genetic Counsellor, Medical Genetics in
Calgary,
AB,
...
careers.ucalgary.ca
July 17, 2025 at 9:06 PM
ATTN graduating Genetic Counsellors/unhappy US GCs- I'm hiring for a 4 year research GC to develop a genetic counseling approach for genetic risk scores in Type 1 Diabetes as a pilot project in newborn screening in Canada. Relocate to Calgary! #genechat
careers.ucalgary.ca/jobs/1644495...
careers.ucalgary.ca/jobs/1644495...
Reposted by Ash Marwaha
Reminder to Canadian scientists who'd like to sign this open letter to party leaders to increase tricouncil funding. It has over 1800 signatures and you can still add to it (link is in the PDF). acrobat.adobe.com/id/urn:aaid:...
Adobe Acrobat
acrobat.adobe.com
April 23, 2025 at 4:49 PM
Reminder to Canadian scientists who'd like to sign this open letter to party leaders to increase tricouncil funding. It has over 1800 signatures and you can still add to it (link is in the PDF). acrobat.adobe.com/id/urn:aaid:...
Come join out medical geneticist physical group at Alberta Children’s Hospital in Calgary Alberta !
doctorjobsalberta.albertahealthservices.ca/jobs/clinica...
doctorjobsalberta.albertahealthservices.ca/jobs/clinica...
Clinical Geneticist in Calgary Zone, Alberta Children's Hospital, Calgary
Position Description: The Section of Medical Genetics and Department of Pediatrics invite applications for a 1.0 FTE Clinical Geneticist position. The successful candidate will provide care for patie...
doctorjobsalberta.albertahealthservices.ca
March 25, 2025 at 3:55 AM
Come join out medical geneticist physical group at Alberta Children’s Hospital in Calgary Alberta !
doctorjobsalberta.albertahealthservices.ca/jobs/clinica...
doctorjobsalberta.albertahealthservices.ca/jobs/clinica...
February 21, 2025 at 7:42 PM
We are having an event for rare disease day and world birth defects day on feb 28:
zoom link:
Zoom Registration Link
lnkd.in/ggfmV4eH
zoom link:
Zoom Registration Link
lnkd.in/ggfmV4eH
February 20, 2025 at 8:36 PM
We are having an event for rare disease day and world birth defects day on feb 28:
zoom link:
Zoom Registration Link
lnkd.in/ggfmV4eH
zoom link:
Zoom Registration Link
lnkd.in/ggfmV4eH
Reposted by Ash Marwaha
Check out our "Gene therapies for neurogenetic disorders" review at @cp-trendsmolecmed.bsky.social
So fun to write!
We talk a lot about #RareDisease patient foundations and clinical trial readiness because it matters a lot to us 💜🦓
www.sciencedirect.com/science/arti...
So fun to write!
We talk a lot about #RareDisease patient foundations and clinical trial readiness because it matters a lot to us 💜🦓
www.sciencedirect.com/science/arti...
February 17, 2025 at 2:59 PM
Check out our "Gene therapies for neurogenetic disorders" review at @cp-trendsmolecmed.bsky.social
So fun to write!
We talk a lot about #RareDisease patient foundations and clinical trial readiness because it matters a lot to us 💜🦓
www.sciencedirect.com/science/arti...
So fun to write!
We talk a lot about #RareDisease patient foundations and clinical trial readiness because it matters a lot to us 💜🦓
www.sciencedirect.com/science/arti...
Reposted by Ash Marwaha
Metabolic emergencies strike fear into the hearts of clinicians, patients and their families. Prompt, effective management may be the difference between life, long-term morbidity, or even death.
Think metabolic, save a life!
Read on: doi.org/10.1002/jimd...
Think metabolic, save a life!
Read on: doi.org/10.1002/jimd...
February 17, 2025 at 1:00 PM
Metabolic emergencies strike fear into the hearts of clinicians, patients and their families. Prompt, effective management may be the difference between life, long-term morbidity, or even death.
Think metabolic, save a life!
Read on: doi.org/10.1002/jimd...
Think metabolic, save a life!
Read on: doi.org/10.1002/jimd...
Reposted by Ash Marwaha
“The distribution of highly deleterious variants across human ancestry groups”. Preprint with Anastasia Stolyarova and @gcbias.bsky.social: www.biorxiv.org/content/10.1...
The distribution of highly deleterious variants across human ancestry groups
A major focus of human genetics is to map severe disease mutations. Increasingly that goal is understood as requiring huge numbers of people to be sequenced from every broadly-defined genetic ancestry...
www.biorxiv.org
February 2, 2025 at 7:00 PM
“The distribution of highly deleterious variants across human ancestry groups”. Preprint with Anastasia Stolyarova and @gcbias.bsky.social: www.biorxiv.org/content/10.1...
Please Stop Buying Home Genetic Tests! | 23andMe Controversy
YouTube video by Doctor Mike
m.youtube.com
December 31, 2024 at 2:37 PM
Rare disease personal stories are so inspiring :
A book of poetry
‘…a necessary read for doctors, nurses, teachers, social workers, psychologists as well as other parents enduring similar experiences’
www.amazon.co.uk/gp/aw/d/B09X...
A book of poetry
‘…a necessary read for doctors, nurses, teachers, social workers, psychologists as well as other parents enduring similar experiences’
www.amazon.co.uk/gp/aw/d/B09X...
Motherhood: Plot Twist: Amazon.co.uk: Finn, Aisling: 9798449441461: Books
Buy Motherhood: Plot Twist by Finn, Aisling (ISBN: 9798449441461) from Amazon's Book Store. Everyday low prices and free delivery on eligible orders.
www.amazon.co.uk
December 1, 2024 at 7:05 PM
Rare disease personal stories are so inspiring :
A book of poetry
‘…a necessary read for doctors, nurses, teachers, social workers, psychologists as well as other parents enduring similar experiences’
www.amazon.co.uk/gp/aw/d/B09X...
A book of poetry
‘…a necessary read for doctors, nurses, teachers, social workers, psychologists as well as other parents enduring similar experiences’
www.amazon.co.uk/gp/aw/d/B09X...
Reposted by Ash Marwaha
“Nobody’s got more grit than a group of kids with rare diseases”
Right now on NBCUniversal, this video is streaming nationally.
youtu.be/h7CKgaLlGWE?...
Right now on NBCUniversal, this video is streaming nationally.
youtu.be/h7CKgaLlGWE?...
The Rarest Stars Shine Brightest—No One Has More Grit Than a Group of Kids with Rare Diseases
YouTube video by Montefiore Health System
youtu.be
November 28, 2024 at 1:31 PM
“Nobody’s got more grit than a group of kids with rare diseases”
Right now on NBCUniversal, this video is streaming nationally.
youtu.be/h7CKgaLlGWE?...
Right now on NBCUniversal, this video is streaming nationally.
youtu.be/h7CKgaLlGWE?...
Reposted by Ash Marwaha
It's great to see this out in Immunity today!
Masato Ogishi, Koji Kitaoka, Jean-Laurent Casanova, Stuart Tangye on memory B cells in patients with PD-1 immunodeficiency
Also stoked to contribute unpublished recall response data from my postdoc a very long time ago 🙂
www.cell.com/immunity/abs...
Masato Ogishi, Koji Kitaoka, Jean-Laurent Casanova, Stuart Tangye on memory B cells in patients with PD-1 immunodeficiency
Also stoked to contribute unpublished recall response data from my postdoc a very long time ago 🙂
www.cell.com/immunity/abs...
November 26, 2024 at 10:33 PM
It's great to see this out in Immunity today!
Masato Ogishi, Koji Kitaoka, Jean-Laurent Casanova, Stuart Tangye on memory B cells in patients with PD-1 immunodeficiency
Also stoked to contribute unpublished recall response data from my postdoc a very long time ago 🙂
www.cell.com/immunity/abs...
Masato Ogishi, Koji Kitaoka, Jean-Laurent Casanova, Stuart Tangye on memory B cells in patients with PD-1 immunodeficiency
Also stoked to contribute unpublished recall response data from my postdoc a very long time ago 🙂
www.cell.com/immunity/abs...
We are hiring a research coordinator with a focus on EDI for my research team at the University of Calgary. Posting below - please pass on to anyone who might be interested to apply:
internal.careers.ucalgary.ca/jobs/1530382...
internal.careers.ucalgary.ca/jobs/1530382...
November 26, 2024 at 9:46 PM
We are hiring a research coordinator with a focus on EDI for my research team at the University of Calgary. Posting below - please pass on to anyone who might be interested to apply:
internal.careers.ucalgary.ca/jobs/1530382...
internal.careers.ucalgary.ca/jobs/1530382...
Reposted by Ash Marwaha
Changes in insulin secretion & clearance predict progression in stage 2 type 1 diabetes & response to teplizumab. Oral-minimal model identifies disease heterogeneity in stage 2 #T1D link.springer.com/article/10.1... 🔓 #TrialNet #T1Dprevention
Trajectory of beta cell function and insulin clearance in stage 2 type 1 diabetes: natural history and response to teplizumab - Diabetologia
Aims/hypothesis We aimed to analyse TrialNet Anti-CD3 Prevention (TN10) data using oral minimal model (OMM)-derived indices to characterise the natural history of stage 2 type 1 diabetes in placebo-tr...
link.springer.com
November 25, 2024 at 7:51 AM
Changes in insulin secretion & clearance predict progression in stage 2 type 1 diabetes & response to teplizumab. Oral-minimal model identifies disease heterogeneity in stage 2 #T1D link.springer.com/article/10.1... 🔓 #TrialNet #T1Dprevention
Reposted by Ash Marwaha
Very interesting paper! Integrating genomics with clinical trials! We are getting there :)
Excited to share our new preprint on integrating genetic data into target trial emulations to improve clinical study design.
Our work highlights how genetic insights can bring greater rigor and clarity to real-world evidence🧵
www.medrxiv.org/content/10.1...
Our work highlights how genetic insights can bring greater rigor and clarity to real-world evidence🧵
www.medrxiv.org/content/10.1...
Integrating genetic data in target trial emulations improves their design and informs the value of polygenic scores for prognostic and predictive enrichment
Randomized controlled trials (RCTs) are the gold standard for evaluating the efficacy and safety of medical interventions but ethical, practical, and financial limitations often necessitate decisions ...
www.medrxiv.org
November 24, 2024 at 4:14 AM
Very interesting paper! Integrating genomics with clinical trials! We are getting there :)
Reposted by Ash Marwaha
We are pleased to share a preprint on the gene curation progress from the first 4 years of the ClinGen Syndromic Disorders Gene Curation Expert Panel (GCEP).
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships
Purpose The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP…
buff.ly
November 24, 2024 at 9:37 AM
We are pleased to share a preprint on the gene curation progress from the first 4 years of the ClinGen Syndromic Disorders Gene Curation Expert Panel (GCEP).
Reposted by Ash Marwaha
Fascinating work on the role of IL-6 signalling in TB and other infectious diseases 👇🏻
🚨 Delighted to share our paper defining a new role for IL-6 in TB. 🚨
We used genetic variation to show *reduced* IL-6 signalling is causally associated with *lower* risk of TB.
Lead author @gushamilton.bsky.social
#TBSky #IDSky #ImmunoSky www.thelancet.com/journals/lan...
Thread 👇 (1/8)
We used genetic variation to show *reduced* IL-6 signalling is causally associated with *lower* risk of TB.
Lead author @gushamilton.bsky.social
#TBSky #IDSky #ImmunoSky www.thelancet.com/journals/lan...
Thread 👇 (1/8)
Altered IL-6 signalling and risk of tuberculosis: a multi-ancestry mendelian randomisation study
Our findings propose a causal relationship between reduced IL-6 signalling and lower
risk of tuberculosis, akin to the effect seen in other IL-6 mediated diseases. This
study suggests that IL-6 antago...
www.thelancet.com
November 21, 2024 at 10:03 PM
Fascinating work on the role of IL-6 signalling in TB and other infectious diseases 👇🏻
Reposted by Ash Marwaha
Reproductive Genetic Carrier Screening may help prevent IMD or at least better prepare parents for the risk. We spoke with the lead author of this paper, Dr Edwin Kirk, around the same topic in 2021:
podcasts.apple.com/gb/podcast/j...
open.spotify.com/episode/3IDz...
#raredisease #carrierscreening
podcasts.apple.com/gb/podcast/j...
open.spotify.com/episode/3IDz...
#raredisease #carrierscreening
November 22, 2024 at 6:55 AM
Reproductive Genetic Carrier Screening may help prevent IMD or at least better prepare parents for the risk. We spoke with the lead author of this paper, Dr Edwin Kirk, around the same topic in 2021:
podcasts.apple.com/gb/podcast/j...
open.spotify.com/episode/3IDz...
#raredisease #carrierscreening
podcasts.apple.com/gb/podcast/j...
open.spotify.com/episode/3IDz...
#raredisease #carrierscreening
Reposted by Ash Marwaha
I'm so glad the #GnomAD team is on Bluesky! The PEXT measure is very useful for filtering disease variants to those which are highly expressed in tissues of interest. For anyone wishing to apply this measure, I'll point you to the original paper: www.nature.com/articles/s41...
🖥️🧬
🖥️🧬
November 23, 2024 at 2:41 AM
I'm so glad the #GnomAD team is on Bluesky! The PEXT measure is very useful for filtering disease variants to those which are highly expressed in tissues of interest. For anyone wishing to apply this measure, I'll point you to the original paper: www.nature.com/articles/s41...
🖥️🧬
🖥️🧬
Reposted by Ash Marwaha
First post on Bluesky, let’s share some websites offering many free illustrations for scientific figures 🖼️ 🧪 🌍 :
scidraw.io
bioart.niaid.nih.gov
www.phylopic.org
More well known but very nice though: www.freepik.com
scidraw.io
bioart.niaid.nih.gov
www.phylopic.org
More well known but very nice though: www.freepik.com
SciDraw |
Scientific Drawings
SciDraw - an open repository of science drawings
scidraw.io
November 23, 2024 at 6:57 AM
First post on Bluesky, let’s share some websites offering many free illustrations for scientific figures 🖼️ 🧪 🌍 :
scidraw.io
bioart.niaid.nih.gov
www.phylopic.org
More well known but very nice though: www.freepik.com
scidraw.io
bioart.niaid.nih.gov
www.phylopic.org
More well known but very nice though: www.freepik.com
New IEI :
New in #ScienceImmunology:
Research from @boztugk.bsky.social and team identifies an inborn error of #immunity caused by human LTβR deficiency, resulting in defective stromal cell signaling and impaired humoral immune responses.
Read more: www.science.org/doi/10.1126/...
Research from @boztugk.bsky.social and team identifies an inborn error of #immunity caused by human LTβR deficiency, resulting in defective stromal cell signaling and impaired humoral immune responses.
Read more: www.science.org/doi/10.1126/...
LTβR deficiency causes lymph node aplasia and impaired B cell differentiation
Loss-of-function mutations in LTBR result in a stromal defect, leading to dysfunctional secondary lymphoid organs and combined immunodeficiency in humans.
www.science.org
November 23, 2024 at 10:48 AM
New IEI :
Reposted by Ash Marwaha
Excellent discussion by Dr Krystal Tsosie on Indigenous genomic data, indigenous data sovereignty, & bioethics. Especially I love the nuances she discusses & the advocating for meaningful representation & inclusion of indigenous peoples to ensure their interests are protected. @kstsosie.bsky.social
Listen now to Dr. Krystal Tsosie on the impacts of AI and data in the cloud on Indigenous genetic and bioethic research, and why she pushes for Indigenous scientists to also be advocates, on the new Privacy on the Ground podcast! podcasts.apple.com/us/podcast/p...
November 17, 2024 at 7:38 PM
Excellent discussion by Dr Krystal Tsosie on Indigenous genomic data, indigenous data sovereignty, & bioethics. Especially I love the nuances she discusses & the advocating for meaningful representation & inclusion of indigenous peoples to ensure their interests are protected. @kstsosie.bsky.social
Reposted by Ash Marwaha
Not my field but this is a timely article about the way we ignore genetics of male infertility in favour of a blunderbuss approach to assisted reproduction www.nature.com/articles/s41...
Why geneticists should care about male infertility - Nature Reviews Genetics
In this Comment, Veltman and Tüttelmann call on geneticists to further study male infertility and help to develop diagnostic strategies using state-of-the-art genomic approaches.
www.nature.com
November 14, 2024 at 11:55 AM
Not my field but this is a timely article about the way we ignore genetics of male infertility in favour of a blunderbuss approach to assisted reproduction www.nature.com/articles/s41...