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CURE MED13L cure-med13l.mn.co/share/GTAVDaog…

New #genes and #CNVs are added to the #SimonsSearchlight study list quarterly. Is a gene you study on our list? Get #data at @SFARIorg Base.

cure-med13l.mn.co/posts/does-it-…

Having a Med13l mutant mouse model is a key step towards a better understanding of #MED13L syndrome. Hopefully in collaboration with Jackson Laboratory The Jackson Laboratory and Mouse Phenotyping Consortium IMPC , mouse models such as the Med13lem1(IMPC)Mbp 👇 are characterized.

28 February 2022 is #RareDiseaseDay #MED13L_syndrome is a rare neuro-developmental disorder mainly caused by newly occurring (de novo) mutations in #MED13L gene. It has an estimated incidence of ~6 in 100,000 births (López-Rivera 2020).

MED13L protein reduction is likely one of the main reasons #MED13L_syndrome occurs (humandiseasegenes.nl/med13l/parents…). Rarebase @rarebasepbc will test 4000 compounds (FDA-approved and promising clinical trial drugs) on neurons to see which ones can safely increase MED13L expression.

Leiden Open Variation Database (LOVD) is a free web-based platform containing the largest network of curated gene variant databases in the world. It also includes MED13L gene variant database. Detected and curated MED13L variants are availabe here: LOVD.nl/MED13L

Today we celebrate #MED13LAwarenessDay w/ MED13L_UPDATE and MED13L SYNDROME! We currently have over 100 MED13L families enrolled in #SimonsSearchlight w/more joining weekly. Find a summary of the #MED13L gene, resources, research, and more on the MED13L webpage: bit.ly/SimonsSearchli…

To create scientific breakthroughs for rare #genetic #neurodevelopmental disorders, families and #scientists must come together. This is why you have to represent yourself in research! Learn more about research participation in #SimonsSearchlight: bit.ly/SimonsSearchli…

A new study by Hamada et al. showed: MED13L expression is relevant to corticogenesis (formation of cerebral cortex) and influences the dendritic branching of cortical excitatory neurons. MED13L variants may directly cause defects in cortical neurons. pubmed.ncbi.nlm.nih.gov/36798993/

Unique's CEO Sarah Wynn & Chair of Trustees Sophie Sainty were delighted to represent Unique & all those living with rare chromosome conditions at the #RareDiseaseDay reception in parliament today. #uniquebutnotalone