Drug repurposing offers hope for SYNGAP1 patients
The SynGAP Research Fund 501(c)(3) has awarded a pair of grants to Dr. Clement Chow, a geneticist and Associate Professor ...
Tag: Rare Disease
Innovative genomic approach identifies rare Long QT syndrome carriers
An innovative analysis of shared segments within the genome -; an indication of distant "relatedness" -; has identified undiagnosed cases ...
New deep learning algorithm predicts effects of rare genetic variants
Whether we are predisposed to particular diseases depends to a large extent on the countless variants in our genome. However, ...
Breakthrough in understanding monilethrix
From infancy and usually for life, some families suffer from broken hair due to a congenital form of hair loss ...
Research may pave the way for systemic targeted therapy for patients with pseudomyxoma peritonei
Published in Clinical Cancer Research, results of a preclinical study led by investigators of the Vall d'Hebron Institute of Oncology's ...
Anakinra shows promise in reducing symptoms in patients with Sanfilippo syndrome
As a neurodegenerative disease characterized by childhood onset dementia, Sanfilippo syndrome causes immense suffering in many ways, including pain, loss ...
Baylor study reveals role of newly inherited DNA variants in recessive diseases
You have your mother's eyes and your father's smile, but genetics is much more than just what's on the surface. ...
Study reveals the inner workings of gene mutations linked to ultra-rare syndrome
A team from the University of Ottawa's Faculty of Medicine has completed an exciting new study that reveals the inner ...
AI-based technology unlocks secrets of myasthenic-congenital syndromes
An international team of scientists led by ICREA researcher and Director of the Life Sciences Department at the Barcelona Supercomputing ...
A bitter battle over the ‘orphan drug’ program leaves patients’ pocketbooks at risk
A prescription drug that helps Lore Wilkinson walk and talk despite a rare muscle disease cost her so little for ...
