Ana Mingorance
@cnsdrughunter.bsky.social
🧠 🧬 Neuroscientist. Looking for new medicines for #CDKL5, #SCN1A, #SHANK3, #DHPS and other neurological #RareDiseases with #epilepsy
Pinned
Ana Mingorance
@cnsdrughunter.bsky.social
· Jan 28
Here is a Starter Pack if you want to quickly find other accounts interested in #SHANK3 Phelan-McDermid syndrome 👀
Let me know if you would like to be included!!
go.bsky.app/5LKoxop
Let me know if you would like to be included!!
go.bsky.app/5LKoxop
Reposted by Ana Mingorance
"Gene therapies for neurogenetic disorders"
http://dlvr.it/TPHWjf
Orrin Devinsky, @cnsdrughunter.bsky.social & colleagues
@cp-trendsmolecmed.bsly.social
#SfN2025
http://dlvr.it/TPHWjf
Orrin Devinsky, @cnsdrughunter.bsky.social & colleagues
@cp-trendsmolecmed.bsly.social
#SfN2025
November 15, 2025 at 8:57 PM
"Gene therapies for neurogenetic disorders"
http://dlvr.it/TPHWjf
Orrin Devinsky, @cnsdrughunter.bsky.social & colleagues
@cp-trendsmolecmed.bsly.social
#SfN2025
http://dlvr.it/TPHWjf
Orrin Devinsky, @cnsdrughunter.bsky.social & colleagues
@cp-trendsmolecmed.bsly.social
#SfN2025
Reposted by Ana Mingorance
Reposted by Ana Mingorance
Congratulations to the 2025 CDKL5 Program of Excellence Pilot Grant awardees! The Loulou Foundation is excited to provide these awards, in collaboration with the Orphan Disease Center at the University of Pennsylvania Perelman School of Medicine, to support CDKL5 research. #CDKL5
May 1, 2025 at 1:38 PM
Congratulations to the 2025 CDKL5 Program of Excellence Pilot Grant awardees! The Loulou Foundation is excited to provide these awards, in collaboration with the Orphan Disease Center at the University of Pennsylvania Perelman School of Medicine, to support CDKL5 research. #CDKL5
Neuren Pharma announces agreement with FDA on #PhelanMcdermidSyndrome co-primary endpoints for Phase3:
➡️ Receptive communication (measured with Vineland)
➡️ Global improvement (measured with PMS-anchored CGI)
Phase 3 to start mid-2025 ⭐
www.neurenpharma.com/showdownload... #PMS #SHANK3
➡️ Receptive communication (measured with Vineland)
➡️ Global improvement (measured with PMS-anchored CGI)
Phase 3 to start mid-2025 ⭐
www.neurenpharma.com/showdownload... #PMS #SHANK3
April 14, 2025 at 12:22 PM
Neuren Pharma announces agreement with FDA on #PhelanMcdermidSyndrome co-primary endpoints for Phase3:
➡️ Receptive communication (measured with Vineland)
➡️ Global improvement (measured with PMS-anchored CGI)
Phase 3 to start mid-2025 ⭐
www.neurenpharma.com/showdownload... #PMS #SHANK3
➡️ Receptive communication (measured with Vineland)
➡️ Global improvement (measured with PMS-anchored CGI)
Phase 3 to start mid-2025 ⭐
www.neurenpharma.com/showdownload... #PMS #SHANK3
Reposted by Ana Mingorance
Increasing prevalence of autism is due, in part, to changing diagnoses www.psu.edu/news/researc... - many cases of what used to be called 'intellectual disability' are now being diagnosed as 'autism'
Increasing prevalence of autism is due, in part, to changing diagnoses | Penn State University
The greater than three-fold increase in autism diagnoses among students in special education programs in the United States between 2000 and 2010 may be due in large part to the reclassification of ind...
www.psu.edu
April 11, 2025 at 8:24 AM
Increasing prevalence of autism is due, in part, to changing diagnoses www.psu.edu/news/researc... - many cases of what used to be called 'intellectual disability' are now being diagnosed as 'autism'
Reposted by Ana Mingorance
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...
🧬 Mutations in the #DHPS gene, needed for the body to make hypusine, produce an ultra-rare neurodevelopmental disease of which there are only 8 patients known world-wide 🦓
Understanding the DHPS enzyme is needed to develop targeted medicines 👀
Cool recent review:
www.cell.com/structure/ab...
Understanding the DHPS enzyme is needed to develop targeted medicines 👀
Cool recent review:
www.cell.com/structure/ab...
The structural biology of deoxyhypusination complexes
In this perspective, Wątor-Wilk et al. discuss the structural biology of deoxyhypusination,
essential for eIF5A/aIF5A activation. Comparing recent crystal and cryo-EM structures
across different speci...
www.cell.com
April 9, 2025 at 6:39 PM
🧬 Mutations in the #DHPS gene, needed for the body to make hypusine, produce an ultra-rare neurodevelopmental disease of which there are only 8 patients known world-wide 🦓
Understanding the DHPS enzyme is needed to develop targeted medicines 👀
Cool recent review:
www.cell.com/structure/ab...
Understanding the DHPS enzyme is needed to develop targeted medicines 👀
Cool recent review:
www.cell.com/structure/ab...
Reposted by Ana Mingorance
Consejo del día...
March 17, 2025 at 1:45 PM
Consejo del día...
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 Ana Mingorance
Austin Leclaire was a remarkable young man with Duchenne who raised awareness about his devastating disease, and as a patient advocate, played a pivotal role in spurring the development of the first medicines to treat it. Austin died on Feb. 1. He was 26.
www.statnews.com/2025/02/06/a...
www.statnews.com/2025/02/06/a...
Remembering a remarkable Duchenne champion
Patient advocate Austin Leclaire, who died Feb. 1, played a pivotal role in spurring the development of the first medicines to treat Duchenne muscular dystrophy.
www.statnews.com
February 6, 2025 at 1:03 PM
Austin Leclaire was a remarkable young man with Duchenne who raised awareness about his devastating disease, and as a patient advocate, played a pivotal role in spurring the development of the first medicines to treat it. Austin died on Feb. 1. He was 26.
www.statnews.com/2025/02/06/a...
www.statnews.com/2025/02/06/a...
Prusiner said in an interview about his discovery of Prions: "if it wasn't a virus, and it wasn't a bacteria, then we knew what it was... it was a Nobel Prize"
I'm reminded to that interview when reading about these "obelisks" RNA mini-life forms 🤯
www.scientificamerican.com/article/weir...
I'm reminded to that interview when reading about these "obelisks" RNA mini-life forms 🤯
www.scientificamerican.com/article/weir...
Weird 'Obelisks' Found in Human Gut May be Virus-Like Entities
Rod-shaped fragments of RNA called “obelisks” were discovered in gut and mouth bacteria for the first time
www.scientificamerican.com
February 2, 2025 at 3:32 PM
Prusiner said in an interview about his discovery of Prions: "if it wasn't a virus, and it wasn't a bacteria, then we knew what it was... it was a Nobel Prize"
I'm reminded to that interview when reading about these "obelisks" RNA mini-life forms 🤯
www.scientificamerican.com/article/weir...
I'm reminded to that interview when reading about these "obelisks" RNA mini-life forms 🤯
www.scientificamerican.com/article/weir...
Here is a Starter Pack if you want to quickly find other accounts interested in #SHANK3 Phelan-McDermid syndrome 👀
Let me know if you would like to be included!!
go.bsky.app/5LKoxop
Let me know if you would like to be included!!
go.bsky.app/5LKoxop
January 28, 2025 at 4:25 PM
Here is a Starter Pack if you want to quickly find other accounts interested in #SHANK3 Phelan-McDermid syndrome 👀
Let me know if you would like to be included!!
go.bsky.app/5LKoxop
Let me know if you would like to be included!!
go.bsky.app/5LKoxop
FDA employees had to withdraw last week from external meetings, including the joint FDA-ASGCT workshop on AAV gene therapies. This has also impacted the PFDD meeting on Angelman syndrome.
I'm hoping this "temporary pause" is short-lived. It is already hurting #RareDisease medicine development 💔
I'm hoping this "temporary pause" is short-lived. It is already hurting #RareDisease medicine development 💔
January 28, 2025 at 10:37 AM
FDA employees had to withdraw last week from external meetings, including the joint FDA-ASGCT workshop on AAV gene therapies. This has also impacted the PFDD meeting on Angelman syndrome.
I'm hoping this "temporary pause" is short-lived. It is already hurting #RareDisease medicine development 💔
I'm hoping this "temporary pause" is short-lived. It is already hurting #RareDisease medicine development 💔
Attention #SHANK3 #Phelan-McDermid syndrome scientists and advocates: at CureSHANK we are planning to make a Starter Pack here in 🦋 so that it will be very easy for new members to follow the community. Let me know if you want to be added!!! ☑️ ☑️ ☑️ ☑️ ☑️
January 27, 2025 at 7:39 PM
Attention #SHANK3 #Phelan-McDermid syndrome scientists and advocates: at CureSHANK we are planning to make a Starter Pack here in 🦋 so that it will be very easy for new members to follow the community. Let me know if you want to be added!!! ☑️ ☑️ ☑️ ☑️ ☑️
Reposted by Ana Mingorance
👋 Who else is here for CDKL5?? go.bsky.app/QEDPkZ4
January 27, 2025 at 4:57 PM
👋 Who else is here for CDKL5?? go.bsky.app/QEDPkZ4
Reposted by Ana Mingorance
Some thoughts on the confusion and anxiety created by the current freeze on communications, hiring, grant reviews, travel, etc at NIH (gift link):
Trump's NIH Freeze Puts Scientific Research at Risk
America’s best scientific minds are scrambling to determine the impact of the disruption.
www.bloomberg.com
January 24, 2025 at 2:21 PM
Some thoughts on the confusion and anxiety created by the current freeze on communications, hiring, grant reviews, travel, etc at NIH (gift link):
Reposted by Ana Mingorance
I've updated the starter pack for rare genetic epilepsies 🧠🧬
It is a work in progress and I will continue to update the pack over the coming weeks 🤩
go.bsky.app/NXw4e8C
It is a work in progress and I will continue to update the pack over the coming weeks 🤩
go.bsky.app/NXw4e8C
November 21, 2024 at 9:10 PM
I've updated the starter pack for rare genetic epilepsies 🧠🧬
It is a work in progress and I will continue to update the pack over the coming weeks 🤩
go.bsky.app/NXw4e8C
It is a work in progress and I will continue to update the pack over the coming weeks 🤩
go.bsky.app/NXw4e8C
Reposted by Ana Mingorance
New preprint alert 📢 The natural history of #CDKL5 deficiency disorder into adulthood ❗
Our findings will inform management decisions, prognostication, and the design of clinical trials ‼️
Angel Aledo-Serrano & David Lewis-Smith 💪👏
#Epilepsy 🧠 #Genetics 🧬
www.medrxiv.org/content/10.1...
Our findings will inform management decisions, prognostication, and the design of clinical trials ‼️
Angel Aledo-Serrano & David Lewis-Smith 💪👏
#Epilepsy 🧠 #Genetics 🧬
www.medrxiv.org/content/10.1...
The natural history of CDKL5 deficiency disorder into adulthood
Knowledge of the natural history of CDKL5 deficiency disorder (CDD) is limited to the results of cross-sectional analysis of largely pediatric cohorts. Assessment of outcomes in adulthood is critical ...
www.medrxiv.org
January 15, 2025 at 6:31 PM
New preprint alert 📢 The natural history of #CDKL5 deficiency disorder into adulthood ❗
Our findings will inform management decisions, prognostication, and the design of clinical trials ‼️
Angel Aledo-Serrano & David Lewis-Smith 💪👏
#Epilepsy 🧠 #Genetics 🧬
www.medrxiv.org/content/10.1...
Our findings will inform management decisions, prognostication, and the design of clinical trials ‼️
Angel Aledo-Serrano & David Lewis-Smith 💪👏
#Epilepsy 🧠 #Genetics 🧬
www.medrxiv.org/content/10.1...
Reposted by Ana Mingorance
Deadline extend to 19th January!
📢 We are looking for a dynamic, energetic and passionate postdoc fellow to work on in vivo electrophysiology to understand and treat neurological diseases! Deadline 8th January #neuropixels #braindynamics #epilepsy #neurodiseases
tinyurl.com/5n6sad38
tinyurl.com/5n6sad38
January 6, 2025 at 6:28 PM
Deadline extend to 19th January!
Reposted by Ana Mingorance
The @ibdm.bsky.social look for new team leaders!
Apply by March 30th if you want to join us to study developmental biology as a PI!
www.ibdm.univ-amu.fr/we-are-recru...
Apply by March 30th if you want to join us to study developmental biology as a PI!
www.ibdm.univ-amu.fr/we-are-recru...
We are recruiting group leaders! - IBDM | Institut de Biologie du Développement de Marseille
The Institut de Biologie du Développement de Marseille (IBDM) is inviting applications for group leader positions. We are seeking innovative researchers who aim to address fundamental questions in bio...
www.ibdm.univ-amu.fr
January 17, 2025 at 3:41 PM
The @ibdm.bsky.social look for new team leaders!
Apply by March 30th if you want to join us to study developmental biology as a PI!
www.ibdm.univ-amu.fr/we-are-recru...
Apply by March 30th if you want to join us to study developmental biology as a PI!
www.ibdm.univ-amu.fr/we-are-recru...
Reposted by Ana Mingorance
Interested in #neurogenetics? @nyugrossman @NYUneurologyres has a neurogenetics fellowship open to both pediatric or adult trainees!
med.nyu.edu/departments-...
med.nyu.edu/departments-...
Neurogenetics Fellowship | NYU Langone Health
NYU Grossman School of Medicine’s Neurogenetics Fellowship focuses on care for complex neurogenetic conditions and groundbreaking research.
med.nyu.edu
January 8, 2025 at 12:39 PM
Interested in #neurogenetics? @nyugrossman @NYUneurologyres has a neurogenetics fellowship open to both pediatric or adult trainees!
med.nyu.edu/departments-...
med.nyu.edu/departments-...
Here are my highlights from the progress that we saw at #AES2024 for rare epilepsy syndromes:
1 - The future is now: tangible progress in disease-modification
2 - Beyond seizures in DEEs
3 - Beyond the largest DEEs
www.draccon.com/dracaena-rep...
#Dravet #SYNGAP1 #STXBP1 #CDKL5
1 - The future is now: tangible progress in disease-modification
2 - Beyond seizures in DEEs
3 - Beyond the largest DEEs
www.draccon.com/dracaena-rep...
#Dravet #SYNGAP1 #STXBP1 #CDKL5
AES 2024: THE FUTURE IS NOW — DRACAENA
The American Epilepsy Society (AES) meeting is the largest epilepsy meeting of the year, and because it takes place every month of December it also serves as an annual review on the understanding and ...
www.draccon.com
December 14, 2024 at 11:28 AM
Looking forward to getting into LAX early to catch up with the traditional #SYNGAP1 Conference by @curesyngap1.bsky.social and the #Dravet Roundtable by @curedravet.bsky.social both on December 5th just before #AES2024
Who else is coming? 💚
Who else is coming? 💚
December 3, 2024 at 2:18 PM
Looking forward to getting into LAX early to catch up with the traditional #SYNGAP1 Conference by @curesyngap1.bsky.social and the #Dravet Roundtable by @curedravet.bsky.social both on December 5th just before #AES2024
Who else is coming? 💚
Who else is coming? 💚
Reposted by Ana Mingorance
Please share-we are hosting an in person (travel support available!) for trainees who want to consider CHOP/Penn labs for postdoc. Apply to have a chance to check out our top notch science and get a trip to Philly!
Late-stage graduate students and junior postdoctoral fellows are invited to attend the 2025 Recruitment Summit for CHOP/Penn Postdoctoral Scholars in Cell Biology and Genomics
careers.chop.edu/us/en/event/...
careers.chop.edu/us/en/event/...
Recruitment Summit for Postdoctoral Scholars in Cell Biology and Genomics | Children’s Hospital of Philadelphia
Recruitment Summit for Postdoctoral Scholars in Cell Biology and Genomics in Philadelphia, Pennsylvania, United States. null at Children’s Hospital of Philadelphia
careers.chop.edu
November 25, 2024 at 6:19 PM
Please share-we are hosting an in person (travel support available!) for trainees who want to consider CHOP/Penn labs for postdoc. Apply to have a chance to check out our top notch science and get a trip to Philly!
Reposted by Ana Mingorance
Explore "Expert Perspectives on Dravet Syndrome Management" with Dr. Scott Perry (@thenotoriouseeg.bsky.social), covering diagnosis, emerging therapies, and care strategies. Gain valuable insights here: bit.ly/4fHiMab #DSF #DravetSyndrome
November 25, 2024 at 4:19 PM
Explore "Expert Perspectives on Dravet Syndrome Management" with Dr. Scott Perry (@thenotoriouseeg.bsky.social), covering diagnosis, emerging therapies, and care strategies. Gain valuable insights here: bit.ly/4fHiMab #DSF #DravetSyndrome