Alexandre Bolze
@alexbolze.bsky.social
Human Geneticist. Principal scientist and PI at Helix.
Pinned
Alexandre Bolze
@alexbolze.bsky.social
· Nov 18
It was great to present our work on the genetics of resistance to disease & how to return results of low disease risk to people at #ASHG24
Why a focus on low risk?
- can't only do high risk, high risk, high risk
- clear benefits to patients
- maybe easier to explain avg risk
🧵 with slides
Why a focus on low risk?
- can't only do high risk, high risk, high risk
- clear benefits to patients
- maybe easier to explain avg risk
🧵 with slides
Reposted by Alexandre Bolze
1/ Meet @saullugo.bsky.social, a pediatric immunologist now at the Immune Deficiencies Lab, National Institute of Pediatrics (INP) in Mexico City. Saul was a postdoc in our Paris lab from 2009-10, and joined us for a month in our NY branch in 2017 to learn WES processing & analysis
May 30, 2025 at 3:06 PM
1/ Meet @saullugo.bsky.social, a pediatric immunologist now at the Immune Deficiencies Lab, National Institute of Pediatrics (INP) in Mexico City. Saul was a postdoc in our Paris lab from 2009-10, and joined us for a month in our NY branch in 2017 to learn WES processing & analysis
Reposted by Alexandre Bolze
1/ Today we spotlight @sanchoshimizu.bsky.social, a postdoc in our Paris branch from 2006-12 and now Reader/Associate Professor at @imperialcollegeldn.bsky.social in the department of infectious diseases and head of both of a lab there and a satellite lab at the @crick.ac.uk
April 24, 2025 at 1:57 PM
1/ Today we spotlight @sanchoshimizu.bsky.social, a postdoc in our Paris branch from 2006-12 and now Reader/Associate Professor at @imperialcollegeldn.bsky.social in the department of infectious diseases and head of both of a lab there and a satellite lab at the @crick.ac.uk
Reposted by Alexandre Bolze
1/New pre-print from Wen Gu reporting enhanced self-renewal and defective neuronal differentiation in neural progenitor cells from patients with L-2-hydroxyglutaric acid dehydrogenase (L2HGDH) deficiency. @cri-utsw.bsky.social. www.biorxiv.org/cgi/content/...
L-2-hydroxyglutarate impairs neuronal differentiation through epigenetic activation of MYC expression
High levels of L- and D-2-hydroxyglutarate, the reduced forms of α-ketoglutarate (αKG), are implicated in human neurodevelopmental disorders and cancer. Both enantiomers exert effects on epigenetics b...
www.biorxiv.org
April 20, 2025 at 8:39 PM
1/New pre-print from Wen Gu reporting enhanced self-renewal and defective neuronal differentiation in neural progenitor cells from patients with L-2-hydroxyglutaric acid dehydrogenase (L2HGDH) deficiency. @cri-utsw.bsky.social. www.biorxiv.org/cgi/content/...
All of the Helix presentations at
@theacmg.bsky.social #ACMGMtg25 today
👇
Come see me at poster 101 to discuss PMS2, lower penetrance and NCCN guidelines.
And at poster 217 on how we are helping variant interpretation with a resource for the PS4 criteria.
@theacmg.bsky.social #ACMGMtg25 today
👇
Come see me at poster 101 to discuss PMS2, lower penetrance and NCCN guidelines.
And at poster 217 on how we are helping variant interpretation with a resource for the PS4 criteria.
March 20, 2025 at 3:48 PM
All of the Helix presentations at
@theacmg.bsky.social #ACMGMtg25 today
👇
Come see me at poster 101 to discuss PMS2, lower penetrance and NCCN guidelines.
And at poster 217 on how we are helping variant interpretation with a resource for the PS4 criteria.
@theacmg.bsky.social #ACMGMtg25 today
👇
Come see me at poster 101 to discuss PMS2, lower penetrance and NCCN guidelines.
And at poster 217 on how we are helping variant interpretation with a resource for the PS4 criteria.
Great talk by Dr. Chad Haldeman-Englert @theacmg.bsky.social #ACMGMtg25
discussing @conehealth.bsky.social GeneConnect program & the Helix Research Network.
He calls every participant with a positive genetic finding.
=> it leads to a very high genetic counseling uptake after ~90%.
discussing @conehealth.bsky.social GeneConnect program & the Helix Research Network.
He calls every participant with a positive genetic finding.
=> it leads to a very high genetic counseling uptake after ~90%.
March 19, 2025 at 5:54 AM
Great talk by Dr. Chad Haldeman-Englert @theacmg.bsky.social #ACMGMtg25
discussing @conehealth.bsky.social GeneConnect program & the Helix Research Network.
He calls every participant with a positive genetic finding.
=> it leads to a very high genetic counseling uptake after ~90%.
discussing @conehealth.bsky.social GeneConnect program & the Helix Research Network.
He calls every participant with a positive genetic finding.
=> it leads to a very high genetic counseling uptake after ~90%.
New 📄 🧵
We can identify all individuals with Familial Hypercholesterolemia via population genomic screening.
Key Q: Does it actually lead to better outcomes?
Very few studies on actual outcomes. Need access to EHR data before & after test.
www.medrxiv.org/content/10.1...
👏 Matt Levy et al.
We can identify all individuals with Familial Hypercholesterolemia via population genomic screening.
Key Q: Does it actually lead to better outcomes?
Very few studies on actual outcomes. Need access to EHR data before & after test.
www.medrxiv.org/content/10.1...
👏 Matt Levy et al.
Population genomic screening leads to improved lipid management in patients with familial hypercholesterolemia
Background: The Helix Research NetworkTM program is a large population genomics initiative that screens an all-comers population of patients for CDC Tier 1 genetic conditions, including familial hyper...
www.medrxiv.org
March 17, 2025 at 7:15 PM
New 📄 🧵
We can identify all individuals with Familial Hypercholesterolemia via population genomic screening.
Key Q: Does it actually lead to better outcomes?
Very few studies on actual outcomes. Need access to EHR data before & after test.
www.medrxiv.org/content/10.1...
👏 Matt Levy et al.
We can identify all individuals with Familial Hypercholesterolemia via population genomic screening.
Key Q: Does it actually lead to better outcomes?
Very few studies on actual outcomes. Need access to EHR data before & after test.
www.medrxiv.org/content/10.1...
👏 Matt Levy et al.
I am proposing a featured symposia on the 'genetics of low risk of disease' or 'genetics of resistance to disease' for ASHG2025.
Who should I invite? Who are the best speakers regarding this topic? Who is interested?
Who should I invite? Who are the best speakers regarding this topic? Who is interested?
January 16, 2025 at 6:11 AM
I am proposing a featured symposia on the 'genetics of low risk of disease' or 'genetics of resistance to disease' for ASHG2025.
Who should I invite? Who are the best speakers regarding this topic? Who is interested?
Who should I invite? Who are the best speakers regarding this topic? Who is interested?
It is important to study the effect of being heterozygote of a pathogenic variant for a recessive condition. More research on this recently, thanks to large biobanks.
A great recent ex: from lab of Amelie Bonnefond in AJHG: www.cell.com/ajhg/abstrac...
+ great to see neg results published
A great recent ex: from lab of Amelie Bonnefond in AJHG: www.cell.com/ajhg/abstrac...
+ great to see neg results published
Monoallelic pathogenic variants in LEPR do not cause obesity
This study assessed the impact of heterozygous LEPR variants on monogenic obesity using functional assays. Despite identifying 12 pathogenic variants, no association with obesity or BMI was found, raising concerns about the efficacy of MC4R agonist setmelanotide for individuals with heterozygous LEPR variants in a current clinical trial.
www.cell.com
December 6, 2024 at 5:27 AM
It is important to study the effect of being heterozygote of a pathogenic variant for a recessive condition. More research on this recently, thanks to large biobanks.
A great recent ex: from lab of Amelie Bonnefond in AJHG: www.cell.com/ajhg/abstrac...
+ great to see neg results published
A great recent ex: from lab of Amelie Bonnefond in AJHG: www.cell.com/ajhg/abstrac...
+ great to see neg results published
It is very easy to get a very low p-value when looking at HLA alleles.
What is harder is to ask the interesting question
AND then design the experiment/analysis correctly. Good definition of cases and controls, covariates etc.
What is harder is to ask the interesting question
AND then design the experiment/analysis correctly. Good definition of cases and controls, covariates etc.
November 23, 2024 at 5:45 PM
It is very easy to get a very low p-value when looking at HLA alleles.
What is harder is to ask the interesting question
AND then design the experiment/analysis correctly. Good definition of cases and controls, covariates etc.
What is harder is to ask the interesting question
AND then design the experiment/analysis correctly. Good definition of cases and controls, covariates etc.
It was great to present our work on the genetics of resistance to disease & how to return results of low disease risk to people at #ASHG24
Why a focus on low risk?
- can't only do high risk, high risk, high risk
- clear benefits to patients
- maybe easier to explain avg risk
🧵 with slides
Why a focus on low risk?
- can't only do high risk, high risk, high risk
- clear benefits to patients
- maybe easier to explain avg risk
🧵 with slides
November 18, 2024 at 5:28 PM
It was great to present our work on the genetics of resistance to disease & how to return results of low disease risk to people at #ASHG24
Why a focus on low risk?
- can't only do high risk, high risk, high risk
- clear benefits to patients
- maybe easier to explain avg risk
🧵 with slides
Why a focus on low risk?
- can't only do high risk, high risk, high risk
- clear benefits to patients
- maybe easier to explain avg risk
🧵 with slides