It's Rare Disease Day. With rare disease research ever more important, as institutional support reduces, please consider giving your attention, empathy, willingness to learn, other resources to MED13L Foundation, who support research on MED13L syndrome.
Thee world still cares. Learn more: med13l.org
Thee world still cares. Learn more: med13l.org
February 28, 2025 at 4:56 PM
It's Rare Disease Day. With rare disease research ever more important, as institutional support reduces, please consider giving your attention, empathy, willingness to learn, other resources to MED13L Foundation, who support research on MED13L syndrome.
Thee world still cares. Learn more: med13l.org
Thee world still cares. Learn more: med13l.org
May 13 is MED13L Day, part of MED13L Awareness Month. Sit a minute and learn. My two sons who have MED13L Syndrome are lucky to have found a good community of therapists, educators, friends here in State College, which has good scaffolding for disability advocacy. 1/n
@med13lfoundation.bsky.social
@med13lfoundation.bsky.social
May 13, 2025 at 5:05 PM
May 13 is MED13L Day, part of MED13L Awareness Month. Sit a minute and learn. My two sons who have MED13L Syndrome are lucky to have found a good community of therapists, educators, friends here in State College, which has good scaffolding for disability advocacy. 1/n
@med13lfoundation.bsky.social
@med13lfoundation.bsky.social
One of the best things you can do is learn more about MED13L syndrome by visiting med13l.org. Choose to understand and appreciate, rather than turn away.
May 13, 2026 at 10:14 PM
One of the best things you can do is learn more about MED13L syndrome by visiting med13l.org. Choose to understand and appreciate, rather than turn away.
#eshg2026 Day 4:
Johnny Bou, Paris on organoid data on MED12/MED13L neurodevelopmental effects
• NPC transcriptome: opposite effects of different SNV and hypomorphic variants
• microelectrode array (MEA) of differentiated iPSC confirms pathogenic alterations
• more MED... genes disease relevant
Johnny Bou, Paris on organoid data on MED12/MED13L neurodevelopmental effects
• NPC transcriptome: opposite effects of different SNV and hypomorphic variants
• microelectrode array (MEA) of differentiated iPSC confirms pathogenic alterations
• more MED... genes disease relevant
June 16, 2026 at 10:01 AM
#eshg2026 Day 4:
Johnny Bou, Paris on organoid data on MED12/MED13L neurodevelopmental effects
• NPC transcriptome: opposite effects of different SNV and hypomorphic variants
• microelectrode array (MEA) of differentiated iPSC confirms pathogenic alterations
• more MED... genes disease relevant
Johnny Bou, Paris on organoid data on MED12/MED13L neurodevelopmental effects
• NPC transcriptome: opposite effects of different SNV and hypomorphic variants
• microelectrode array (MEA) of differentiated iPSC confirms pathogenic alterations
• more MED... genes disease relevant
I try yesterday with 4800 aa (med13l-med12l-cdk8) and it worked in less than 30min.
May 11, 2024 at 7:32 AM
I try yesterday with 4800 aa (med13l-med12l-cdk8) and it worked in less than 30min.
📣New from Smol et al!
📄MED13L Pathogenic Missense Variants Impair Protein Stability and Interaction, Underlying Diverse Clinical Outcomes
👉https://bit.ly/44dNILJ
📄MED13L Pathogenic Missense Variants Impair Protein Stability and Interaction, Underlying Diverse Clinical Outcomes
👉https://bit.ly/44dNILJ
June 12, 2025 at 2:37 PM
📣New from Smol et al!
📄MED13L Pathogenic Missense Variants Impair Protein Stability and Interaction, Underlying Diverse Clinical Outcomes
👉https://bit.ly/44dNILJ
📄MED13L Pathogenic Missense Variants Impair Protein Stability and Interaction, Underlying Diverse Clinical Outcomes
👉https://bit.ly/44dNILJ
It's Rare Disease Day.
Here's one to learn about. Choose to learn more, which in itself can be prosocial. And then, maybe, sit and consider that the sheer range of life that exists in this world is beautiful and complex (putting aside "cure" framings). Neurodiversity is important.
med13l.org
Here's one to learn about. Choose to learn more, which in itself can be prosocial. And then, maybe, sit and consider that the sheer range of life that exists in this world is beautiful and complex (putting aside "cure" framings). Neurodiversity is important.
med13l.org
March 1, 2026 at 4:14 AM
It's Rare Disease Day.
Here's one to learn about. Choose to learn more, which in itself can be prosocial. And then, maybe, sit and consider that the sheer range of life that exists in this world is beautiful and complex (putting aside "cure" framings). Neurodiversity is important.
med13l.org
Here's one to learn about. Choose to learn more, which in itself can be prosocial. And then, maybe, sit and consider that the sheer range of life that exists in this world is beautiful and complex (putting aside "cure" framings). Neurodiversity is important.
med13l.org
RRIDs were included in this None paper. We value the author's support of reproducibility. #reproducibility #ReproducibleResearch #reproducibility
Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome
doi.org
September 19, 2025 at 7:00 AM
RRIDs were included in this None paper. We value the author's support of reproducibility. #reproducibility #ReproducibleResearch #reproducibility
MED13L syndrome often presents with behaviors linked to autism spectrum disorder. We can aim to understand neurodevelopmental disorders, taking symptoms seriously. While at same time knowing that we can & should respect neurodivergent minds without stigmatizing them as deficits in need of a "cure".
Autism is not a disease. It’s a complex developmental condition better known as autism spectrum disorder that affects different people in different ways. https://to.pbs.org/3Iu6SVI
Here's what we know about the causes of autism
Autism rates are rising, but that's largely about an expanded definition, more awareness and more screening.
to.pbs.org
September 23, 2025 at 1:03 AM
MED13L syndrome often presents with behaviors linked to autism spectrum disorder. We can aim to understand neurodevelopmental disorders, taking symptoms seriously. While at same time knowing that we can & should respect neurodivergent minds without stigmatizing them as deficits in need of a "cure".
🧪 Exciting news!
The #MED13L Foundation and Citizen Health have developed a new platform that will bring all your MED13L medical records together in one secure place.
It will use advanced AI features, support multiple languages, and contribute directly to ongoing #MED13LResearch.
Stay tuned!
The #MED13L Foundation and Citizen Health have developed a new platform that will bring all your MED13L medical records together in one secure place.
It will use advanced AI features, support multiple languages, and contribute directly to ongoing #MED13LResearch.
Stay tuned!
May 27, 2025 at 3:31 PM
🧪 Exciting news!
The #MED13L Foundation and Citizen Health have developed a new platform that will bring all your MED13L medical records together in one secure place.
It will use advanced AI features, support multiple languages, and contribute directly to ongoing #MED13LResearch.
Stay tuned!
The #MED13L Foundation and Citizen Health have developed a new platform that will bring all your MED13L medical records together in one secure place.
It will use advanced AI features, support multiple languages, and contribute directly to ongoing #MED13LResearch.
Stay tuned!
🧬 New from Campbell et al!
📄Cyclin C nuclear release and mitochondrial dysfunction define molecular signatures of MED13L Syndrome
👉 www.cell.com/hgg-advances...
📄Cyclin C nuclear release and mitochondrial dysfunction define molecular signatures of MED13L Syndrome
👉 www.cell.com/hgg-advances...
September 8, 2026 at 3:14 PM
🧬 New from Campbell et al!
📄Cyclin C nuclear release and mitochondrial dysfunction define molecular signatures of MED13L Syndrome
👉 www.cell.com/hgg-advances...
📄Cyclin C nuclear release and mitochondrial dysfunction define molecular signatures of MED13L Syndrome
👉 www.cell.com/hgg-advances...
RRIDs were included in this None paper. RRIDs improve reproducibility in scientific research. #STMpublishing #accelerateopenscience #methodsmatter
Med13 and Med13L: Critical redundant players in basal cardiac function and gene expression
doi.org
September 7, 2025 at 7:00 AM
RRIDs were included in this None paper. RRIDs improve reproducibility in scientific research. #STMpublishing #accelerateopenscience #methodsmatter
You could be unlocking extra funds for rare disease research just by donating. Ask your HR department today and use the QR Code (or this link: med13l.org/donate/) to get started!
#CorporateMatching #MED13L #RAREDISEASERESEARCH #careaboutrare #med13lsyndrome #RareDisease
#CorporateMatching #MED13L #RAREDISEASERESEARCH #careaboutrare #med13lsyndrome #RareDisease
December 19, 2025 at 10:46 PM
You could be unlocking extra funds for rare disease research just by donating. Ask your HR department today and use the QR Code (or this link: med13l.org/donate/) to get started!
#CorporateMatching #MED13L #RAREDISEASERESEARCH #careaboutrare #med13lsyndrome #RareDisease
#CorporateMatching #MED13L #RAREDISEASERESEARCH #careaboutrare #med13lsyndrome #RareDisease
📆 We want your input!
Join us for our upcoming LIVE Q&A on May 21 at 12 PM EST — a conversation designed to bring #MED13L families, researchers, and leadership together.
Complete the survey to get your questions in! docs.google.com/forms/d/e/1F...
Join us for our upcoming LIVE Q&A on May 21 at 12 PM EST — a conversation designed to bring #MED13L families, researchers, and leadership together.
Complete the survey to get your questions in! docs.google.com/forms/d/e/1F...
May 7, 2026 at 7:09 PM
📆 We want your input!
Join us for our upcoming LIVE Q&A on May 21 at 12 PM EST — a conversation designed to bring #MED13L families, researchers, and leadership together.
Complete the survey to get your questions in! docs.google.com/forms/d/e/1F...
Join us for our upcoming LIVE Q&A on May 21 at 12 PM EST — a conversation designed to bring #MED13L families, researchers, and leadership together.
Complete the survey to get your questions in! docs.google.com/forms/d/e/1F...
This night of music + community will help support the Natural History Study at Boston Children’s Hospital — a huge step toward clinical trial readiness for #MED13L Syndrome. 💙
Tickets will be available soon! Every ticket leads to more hope, more research, and more progress.
Tickets will be available soon! Every ticket leads to more hope, more research, and more progress.
October 10, 2025 at 9:49 PM
This night of music + community will help support the Natural History Study at Boston Children’s Hospital — a huge step toward clinical trial readiness for #MED13L Syndrome. 💙
Tickets will be available soon! Every ticket leads to more hope, more research, and more progress.
Tickets will be available soon! Every ticket leads to more hope, more research, and more progress.
This 4th of July, we at the #MED13L Foundation celebrate and support our community navigating a #disability, because Disability Rights are Human Rights. 💙
Inclusion ➜ Action ➜ Impact.
👕 Purchase our “Disability Rights Are Human Rights” tees: www.bonfire.com/disability-rights-are-human-rights-15/
Inclusion ➜ Action ➜ Impact.
👕 Purchase our “Disability Rights Are Human Rights” tees: www.bonfire.com/disability-rights-are-human-rights-15/
July 4, 2025 at 3:24 PM
This 4th of July, we at the #MED13L Foundation celebrate and support our community navigating a #disability, because Disability Rights are Human Rights. 💙
Inclusion ➜ Action ➜ Impact.
👕 Purchase our “Disability Rights Are Human Rights” tees: www.bonfire.com/disability-rights-are-human-rights-15/
Inclusion ➜ Action ➜ Impact.
👕 Purchase our “Disability Rights Are Human Rights” tees: www.bonfire.com/disability-rights-are-human-rights-15/
Today, we honor every family navigating the #MED13L journey and reaffirm our commitment to advancing research, raising awareness, and creating hope for the future.
Join us on May 21 at 12PM Eastern for a live Q&A session and build your own fundraiser at the link below!
lnk.bio/med13lfounda...
Join us on May 21 at 12PM Eastern for a live Q&A session and build your own fundraiser at the link below!
lnk.bio/med13lfounda...
May 13, 2026 at 1:51 PM
Today, we honor every family navigating the #MED13L journey and reaffirm our commitment to advancing research, raising awareness, and creating hope for the future.
Join us on May 21 at 12PM Eastern for a live Q&A session and build your own fundraiser at the link below!
lnk.bio/med13lfounda...
Join us on May 21 at 12PM Eastern for a live Q&A session and build your own fundraiser at the link below!
lnk.bio/med13lfounda...
🚨Big news: The American Academy of Pediatrics (AAP) now recommends whole genome/exome sequencing (WGS/WES) as Tier 1 testing for kids with intellectual disabilities or developmental delays.
This update is critical for #MED13L families. Learn more about why here: drive.google.com/file/d/1ZD_0...
This update is critical for #MED13L families. Learn more about why here: drive.google.com/file/d/1ZD_0...
June 26, 2025 at 5:31 PM
🚨Big news: The American Academy of Pediatrics (AAP) now recommends whole genome/exome sequencing (WGS/WES) as Tier 1 testing for kids with intellectual disabilities or developmental delays.
This update is critical for #MED13L families. Learn more about why here: drive.google.com/file/d/1ZD_0...
This update is critical for #MED13L families. Learn more about why here: drive.google.com/file/d/1ZD_0...
Navigating the diagnostic process for your child’s #MED13L condition can bring its own set of challenges. The cycle of exams and blood draws often brings discomfort, anxiety, and emotional strain — not just for your child, but for you as a caregiver.
Have a tip that’s worked for you? Let us know!
Have a tip that’s worked for you? Let us know!
July 23, 2025 at 5:15 PM
Navigating the diagnostic process for your child’s #MED13L condition can bring its own set of challenges. The cycle of exams and blood draws often brings discomfort, anxiety, and emotional strain — not just for your child, but for you as a caregiver.
Have a tip that’s worked for you? Let us know!
Have a tip that’s worked for you? Let us know!
It's #RareDiseaseDay. I encourage you all to learn about rare diseases, how you can advocate, show support. As a father, one of the main things I can do is advocate for my children's voices and rights. You can learn more at about MED13L syndrome at med13l.org. Attention is kindness.
February 29, 2024 at 10:01 PM
It's #RareDiseaseDay. I encourage you all to learn about rare diseases, how you can advocate, show support. As a father, one of the main things I can do is advocate for my children's voices and rights. You can learn more at about MED13L syndrome at med13l.org. Attention is kindness.
Cyclin C nuclear release and mitochondrial dysfunction define molecular signatures of MED13L Syndrome #RareDisease #Genetics www.cell.com/hgg-advances...
September 7, 2026 at 8:21 PM
Cyclin C nuclear release and mitochondrial dysfunction define molecular signatures of MED13L Syndrome #RareDisease #Genetics www.cell.com/hgg-advances...
Back to school looks a little different for our families. 💙 The MED13L Foundation has two free handouts to help teachers understand your child this school year: a Meet Me form and a classroom guide. Download both at med13l.org/knowledge-ba...
#MED13L #backtoschool #med13lsyndrome #raredisease
#MED13L #backtoschool #med13lsyndrome #raredisease
August 31, 2026 at 9:51 PM
Back to school looks a little different for our families. 💙 The MED13L Foundation has two free handouts to help teachers understand your child this school year: a Meet Me form and a classroom guide. Download both at med13l.org/knowledge-ba...
#MED13L #backtoschool #med13lsyndrome #raredisease
#MED13L #backtoschool #med13lsyndrome #raredisease
Because #MED13L syndrome is rare, scientists are still learning about many genetic changes. As more families participate in research, some VUS results are reclassified over time.
med13l.org
med13l.org
July 8, 2026 at 6:18 PM
Because #MED13L syndrome is rare, scientists are still learning about many genetic changes. As more families participate in research, some VUS results are reclassified over time.
med13l.org
med13l.org
Si vous êtes sur Lyon vendredi et samedi prochain, n'hésitez pas à venir faire un petit coucou.
J'aurai le plaisir d'intervenir lors des journées européennes Recherche & Familles consacrées au syndrome MED13L
luma.com/z41gj92a?fro...
J'aurai le plaisir d'intervenir lors des journées européennes Recherche & Familles consacrées au syndrome MED13L
luma.com/z41gj92a?fro...
October 15, 2025 at 7:23 AM
Si vous êtes sur Lyon vendredi et samedi prochain, n'hésitez pas à venir faire un petit coucou.
J'aurai le plaisir d'intervenir lors des journées européennes Recherche & Familles consacrées au syndrome MED13L
luma.com/z41gj92a?fro...
J'aurai le plaisir d'intervenir lors des journées européennes Recherche & Familles consacrées au syndrome MED13L
luma.com/z41gj92a?fro...
El emotivo encuentro de Laura y Clara, dos hermanas con síndrome de MED13L, con Bartra, Riquelme y los jugadores del Betis ver.tw/ndfbg7
El emotivo encuentro de Laura y Clara, dos hermanas con síndrome de MED13L, con Bartra, Riquelme y los jugadores del Betis
Para Laura y Clara, dos hermanas diagnosticadas con síndrome de MED13L, hay un día que no olvidarán nunca. Las pequeñas pudieron cumplir uno de sus
ver.tw
May 29, 2026 at 6:45 PM
El emotivo encuentro de Laura y Clara, dos hermanas con síndrome de MED13L, con Bartra, Riquelme y los jugadores del Betis ver.tw/ndfbg7