This is the story of Ved Nambiar, a Malayali boy living in Chicago, battling a rare condition known as POGZ disorder -- a disease so rare that it affects only about 500 children across the world.

Swapna Sasidharan has started the Cure POGZ Disorders Foundation, assembling a scientific advisory board composed of medical and academic experts and launching a fundraising apparatus to generate ...

Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, Siena, Italy White–Sutton syndrome (WSS), associated with POGZ ...

1Gerald Bronfman Department of Oncology, McGill University, Montreal, Quebec, Canada. 2Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada. 3Princess Margaret ...

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Sun Yuhua from the Institute of Hydrobiology (IHB) of the Chinese Academy of Sciences found that ASD-risk factor POGZ plays an important role in the maintenance of ESCs by silencing the Dux gene ...

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Intracerebral hemorrhage (ICH) causes severe sensorimotor dysfunction and cognitive decline which are aggravated by secondary brain injury, yet there are no effective management to alleviate these ...

Objective: To utilize whole exome or genome sequencing and the scientific literature for identifying candidate genes for cyclic vomiting syndrome (CVS), an idiopathic migraine variant with paroxysmal ...

These included conditions caused by rare changes in genes such as ADNP, POGZ, DDX3X, PURA and many others.” Prof Wright added: “Getting the right diagnosis is absolutely critical for families ...

Published today in the journal Brain, the paper focuses on ADNP and POGZ, the two top-ranked risk factor genes for ASD/ID. The research demonstrates that mutations in these genes result in abnormal ...