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Get involved in Rare Disease Day!

February 28, 2023 is the designated “Rare Disease Awareness Day” across the world. Dup15q Syndrome is 1 of 7,000 Rare Diseases. 1 in 20 people will be diagnosed with a rare disease at some point in their life. Despite this, there is no cure for the majority and many...

Epigenomic signatures reveal mechanistic clues and predictive markers for autism spectrum disorder

Epigenomic signatures reveal mechanistic clues and predictive markers for autism spectrum disorder Janine M. LaSalle Molecular Psychiatry (2023) https://doi.org/10.1038/s41380-022-01917-9 Abstract Autism spectrum disorder (ASD) comprises a heterogeneous group of...

Consistent, convergent pathways link two forms of autism

Consistent, convergent pathways link two forms of autism BY ANGIE VOYLES ASKHAM  / Spectrum News / 15 NOVEMBER 2022https://doi.org/10.53053/OWUW9177 The brains of people with a duplication of the 15q11-13 chromosomal region have dysregulated gene expression,...

LADDER Database Family-friendly Reports

LADDER Database Family-friendly Reports LADDER shares de-identified information (which means it cannot be traced back to you or your family) from the LADDER database with approved researchers. When research projects using LADDER data result in publications, we share...