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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 […]

Mutations causing infertility in Tonne-Kalscheuer syndrome identified with CRISPR

A new study has used CRISPR gene editing to identify mutations causing infertility in Tonne-Kalscheuer syndrome, a rare developmental disorder. […]

Whole Genome Sequencing Detects Neurological Disorders

 This post was written by Charlotte Harrison, Freelance Science Writer  Whole genome sequencing detects neurological disorders  Genetic testing using whole […]

Genetic atlases reveal new landscapes in brain structure

An international team has used genetic atlases of the human brain to identify hundreds of new genomic loci that help […]

Why do people with Down syndrome develop Alzheimer’s?

For the first time, researchers carried out single-cell transcriptomic analysis and long-read sequencing in Down syndrome brains to better understand […]

World-first study shows that WGS shortens diagnostic odyssey

A world-first scientific study has shown that whole-genome sequencing (WGS) improves diagnosis of rare diseases and shortens diagnostic journeys for […]

Genetic engineering of a PKU treatment is tested

Genetic engineering of a strain of E. Coli has successfully passed safety protocols for the treatment of PKU.  Phenylketonuria (PKU)  […]

Patient Perspectives: Nina Knight – Mother, Advocate and Chair of Acrodysostosis Support & Research

Nina Knight is a mother, advocate and Chair of the Acrodysostosis Support & Research Charity. Nina’s daughter, Lily, was diagnosed […]

AP1G1: The new gene being linked to certain neurodevelopmental disorders

Researchers have discovered that the gene AP1G1 could be associated with certain neurodevelopmental disorders and intellectual disabilities. A person 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 […]