What is Marcus Gunn syndrome, in which the eyelid moves with the jaw: Understanding risks and inheritance

Marcus Gunn Syndrome, or Marcus Gunn jaw winking ptosis, is a rare congenital disorder that presents as a droopy eyelid ...
Healio

‘Passion project’: Study confirms link between Agent Orange, myelodysplastic syndrome

A national prospective study has confirmed a long-suspected link between Agent Orange and a rare but serious form of blood ...
Fierce Pharma

With pivotal trial underway, Ionis ramps up Angelman syndrome awareness with Lifetime TV segment

As it kicks off a pivotal phase 3 trial of its investigational treatment for Angelman syndrome (AS), Ionis Pharmaceuticals is ...

Family’s stunning Christmas lights honouring toddler raise $300,000 for charity

Sofia Waters only lived three years, but her love of Christmas lights is still working wonders in Western Sydney.
Original paper

15q13.2q13.3 microdeletion syndrome with congenital stationary night blindness due to compound deletion and a missense point mutation in TRPM1 gene

Department of Medical Genetics, The Children’s Memorial Health Institute, Warszawa, Poland Department of Ophthalmology, Professor Jan Bogdanowicz Children’s Hospital, Warszawa, Poland Warsaw Genomics, ...
eLife

Targeting single gene may reverse cognitive deficits in 22q11.2 Deletion Syndrome

Add a comment + Open annotations. The current annotation count on this page is being calculated. Researchers have identified a promising strategy to improve memory and brain cell function in models of ...
The Lancet

Neurobiological perspective of 22q11.2 deletion syndrome

hCampbell Family Mental Health Research Institute, Toronto, ON, Canada iDivision of Cardiology & Toronto General Hospital Research Institute, University Health Network, Toronto, ON, Canada jDepartment ...
The New York Times

Farmers Sue Over Deletion of Climate Data From Government Websites

The data, which disappeared from Agriculture Department sites in recent weeks, was useful to farmers for business planning, the lawsuit said. By Karen Zraick Organic farmers and environmental groups ...
News Medical

Researchers identify genetic cause of Lennox-Gastaut syndrome

Researchers at Baylor College of Medicine, the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital, Baylor Genetics and collaborating institutions provided a ...
Baylor College of Medicine

Child with rare epileptic disorder receives long-awaited diagnosis

Researchers at Baylor College of Medicine, the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital, Baylor Genetics and collaborating institutions provided a ...