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Researchers Discover New Genetic Variants Responsible for Neurodevelopmental Disorders


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Researchers Discover New Genetic Variants Responsible for Neurodevelopmental Disorders
Researchers at the Center for Applies Genomics (CAG) at Children’s Hospital of Philadelphia (CHOP) have revealed how variants of a gene responsible for packing and condensing genetic material present a novel cause for certain neurodevelopmental disorders. The findings were published today in Science Advances.
Many neurodevelopmental disorders classified as intellectual disabilities are linked to certain genetic variants. Despite this, the underlying molecular mechanism for most of these patients is unknown. In particular, several neurodevelopmental disorders have been linked to pathogenic variants in genes responsible chromatin remodeling, or the rearrangement of the structure of chromosomes that allows for the transcription of DNA into directions to carry out necessary functions of the cells in the body. ....

United States , Hakon Hakonarson , Burroughs Wellcome Fund , National Institutes Of Health , Institutional Development Funds , National Eye Institute , Department Of Pathology , Laboratory Medicine , National Human Genome Research Institute , Diseases Program Victoria , Harbig Family Foundation , Murdoch Children Research Institute , Harvard Center , Blood Institute , National Heart , Victorian Government Operational Infrastructure Support Program , Applies Genomics , Yuanquan Song , Applied Genomics , National Institutes , Undiagnosed Diseases Program Victoria , Murdoch Children , Research Institute , Victorian Government , Operational Infrastructure Support , Broad Institute ,

World-leading children's hospitals partner to find new treatments for pediatric diseases


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Ahead of Rare Disease Day (28 February), four leading children s research institutions on three continents are joining forces to decipher paediatric illnesses, including rare diseases, and find better treatments.
The four paediatric hospitals Boston Children s Hospital; UCL Great Ormond Street Institute for Child Health and Great Ormond Street Hospital (London); the Murdoch Children s Research Institute with The Royal Children s Hospital (Melbourne); and The Hospital for Sick Children (SickKids) in Toronto are working together to evaluate genomic data, clinical data from patients, and scientific and medical expertise to accelerate discovery and therapeutic development.
The partnership, known as the International Precision Child Health Partnership (IPCHiP), is the first major global collaboration around genomics and child health. The founding partners anticipate that additional institutions will join the collaboration in the future. ....

United States , United Kingdom , City Of , Tom Keeble , Rosalind Smyth , Davida Williams , Stephen Scherer , States Erin Tornatore , Greg Costain , Vann Chau , Katherine Howell , International League Against Epilepsy , Institute For Child Health , Research Hospital , International Venture Philanthropy Network , International Precision Child Health Partnership Ipchi , Centre For Applied Genomics , University Of Melbourne , Department Of Paediatrics , Zayed Centre For Research , Genetics Genome Biology Program At Sickkids , Precision Child Health , Neurosciences Mental Health Program At Sickkids , Murdoch Children Research Institute , Institute Of Child Health , Division Of Clinical ,