Instead of a deletion of genes in the 7q11.23 chromosomal region, some people’s DNA features a duplication, resulting in behaviors that are, in turn, quite the opposite of those exhibited by ...

The neurodevelopmental disorder MECP2 duplication syndrome (MDS) is caused by duplications spanning the methyl-CpG binding protein 2 gene (MECP2) locus, and researchers have shown that the MDS-like ...

The correct number of gene copies is crucial for normal human development and function. Changes in gene dosage can cause diseases like MECP2 duplication syndrome, a rare neurodevelopmental disorder.

Brantley was born with MECP-2 Duplication Syndrome. Many Americans first learned about this progressive, neurological disorder in 2018, when NBC’s Richard Engel first announced this his son had ...

MECP2 overexpression is known to cause MECP2 duplication syndrome, an extremely severe and often fatal neurodevelopmental disease.

Methyl-CpG binding protein 2 (MeCP2) duplication syndrome (MDS) is a rare, fatal childhood neurodevelopmental disorder with an estimated live birth prevalence in males of 1 per 150,000.

Scientists have discovered a key feature of this subtype is a duplicated gene that results in overactive or overexcited brain circuits. The subtype is called 16p11.2 duplication syndrome.

The FDA has awarded U.S. orphan drug designation and rare pediatric disease designation to Huidagene Therapeutics Co. Ltd.’s HG-204 (AAV-hfCas13Y-gMECP2), an RNA editing therapy based on CRISPR/Cas13Y ...

Angelman syndrome incurred the highest yearly costs per person at $96,994, followed by Prader-Willi syndrome ($57,576), Chromosome 15q duplication syndrome ($52,130) and Fragile X syndrome ($33,221).