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Search results for: Rett syndrome

A novel pathway in the pathology of Rett syndrome

Researchers have revealed how dysregulation of the MECP2/miR-199a axis may contribute to the molecular pathology of Rett syndrome. Rett syndrome […]

Patient Perspectives: Vaila Morrison – Architect, Mother and Rare Disease Advocate (KAT6A syndrome)

Vaila Morrison is an architect focused on sustainable and inclusive design as well as a mother to a child with […]

Antisense therapy for MECP2 duplication syndrome

A preclinical study has provided experimental evidence that supports the use of antisense oligonucleotides as a strategy to treat MECP2 […]

New insights into X-inactivation

Researchers at Massachusetts General Hospital have uncovered new insights into our understanding of X-inactivation in female mammals. Chromosome architecture Classical […]

World of Genomics: Croatia

Croatia has grown into a thriving nation imbued with a rich cultural background and history. With its famous cities, stunning […]

A Spotlight On: Risk Genes for Psychiatric Disorders – Derek Morris

Derek Morris, Senior Lecturer in Biomedical Science at the University of Galway, joins us to discuss the genetics behind psychiatric […]

A Spotlight On: Rare Disease – Marshall Summar, Director of the Rare Disease Institute at the Children’s National Hospital

Marshall Summar is Director of the Rare Disease Institute at the Children’s National Hospital. He runs the genetics and metabolism […]

New study implicates somatic mutations in neurological disorders

Written by Isobel Young, Science Writer Research focusing on neurological disorders has become more frequent in recent years. However, there […]

Down the Rabbit Hole: Genomics of tree health and adaptation – Richard Buggs, Evolutionary Biologist

Richard Buggs is a Professor of Evolutionary Genomics at Queen Mary, University of London (QMUL) and a Senior Research Leader […]

Genome Giants – Janina Jeff, Staff Bioinformatics Scientist, Illumina

Janina Jeff is an American geneticist and Staff Bioinformatics Scientist at Illumina. Jeff is particularly interested in identifying genetic variants […]