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: Mutation
Study provides new insights into the molecular causes of rare, fatal hereditary disease
A study entitled "IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport", now published in the open access journal "Cellular ...
Scientists develop new method for relocating misplaced proteins
Cells are highly controlled spaces that rely on every protein being in the right place. Many diseases, including cancers and ...
Artificial lymphoid organ-chips created to predict vaccine responses in humans
Researchers at the Institut Pasteur in France have developed artificial "lymphoid organ-chips" that recreate much of the human immune system's ...
Breakthrough in understanding monilethrix
From infancy and usually for life, some families suffer from broken hair due to a congenital form of hair loss ...
Philippines faces scrutiny over rollout of unproven African swine fever vaccine
The Philippines is under global scrutiny as it proceeds with the controlled rollout of an unproven African swine fever (ASF) ...
AmoyDx® Pan Lung Cancer PCR Panel approved in Japan as a companion diagnostic for Haiyitan® tablets (gumarontinib)
Riken Genesis Co., Ltd., Amoy Diagnostics Co., Ltd., (“AmoyDx”) and Precision Medicine Asia Co., Ltd. (“PREMIA”) today announced that the ...
Scientists awarded $7.7 million grant to develop treatment for rare brain disorder
Children born with a damaged gene needed for healthy brain development, SYNGAP1, experience seizures, sensory processing disorders, difficulty speaking, intellectual ...
DNA repair gene mutations predict bladder cancer response to neoadjuvant chemotherapy
An analysis of pre-treatment tumor specimens from 105 patients with localized muscle-invasive bladder cancer found that the presence of a ...
New guidelines expand BRCA testing and screening for men
More and more studies show that men face risks of cancer from BRCA1 and BRCA2 genetic mutations that are most ...
