Sotos Syndrome News and Research

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Researchers use epigenetic signatures to advance diagnosis for neurodevelopmental disorders

Greenwood Genetic Center researchers in collaboration with scientists from Canada have identified unique epigenetic signatures for nine neurodevelopmental disorders lending to a better method of diagnosis for disorders with much clinical overlap.

23 Jan 2018

Manchester first to implement Congenica's Sapientia technology to provide fast, accurate diagnosis for genetic diseases

10,000 new patients a year are treated by the Manchester Centre for Genomic Medicine (MCGM) for a range of rare diseases including cancers, developmental disorders and disabilities including hearing and vision loss - diagnosis can be time-consuming and invasive.

10 Jun 2015

Cause of esodeviation differs in children, adults

Children who present with acute-onset esodeviation should be investigated for underlying central nervous system disorders, study findings indicate.

4 Feb 2013

Scientists discover gene that causes Weaver syndrome

Scientists have found a gene that causes Weaver syndrome, a rare genetic disorder that typically causes large size at birth, tall stature, developmental delay during childhood, and intellectual disability.

16 Dec 2011