Genes Phenotypes Help, News, Blog

The development of a potential treatment for alkaptonuria shows the utility of mouse models in the study of rare diseases

The inhibition of alkaptonuria by the chemical nitisinone in a mouse model led to a full-scale clinical trial funded by…

Published: 22 Feb 2019

Gene editing possible for kidney disease

For the first time scientists have identified how to halt kidney disease in a life-limiting genetic condition, which may pave…

Published: 19 Nov 2018

Exploring the therapeutic potential of CRISPR/Cas9 for the treatment of PelizaeusMerzbacher Disease

ASHG 2018 Annual Meeting – research using mouse models Guest post by Eleonora Maino (ASHG poster: Wednesday 2-3pm, poster number 1107)…

Published: 17 Oct 2018

One size fits all: Transcriptional upregulation of a disease modifier gene as a mutation-independent approach in muscular dystrophy

ASHG 2018 Annual Meeting – research using mouse models Guest post by Dwi Kemaladewi (ASHG talk: Wednesday, 6:15pm - 6:30pm in Room 6F)…

Published: 17 Oct 2018

Mouse models allow for in-depth in vivo analysis of bone healing in the common genetic bone dysplasia, Osteogenesis Imperfecta

ASHG 2018 Annual Meeting – research using mouse models Guest post by Jennifer Zieba Osteogenesis Imperfecta (OI) is the most…

Published: 17 Oct 2018

Connexin 47 gain-of function CRISPR mouse model

ASHG 2018 Annual Meeting – research using mouse models Guest post by Robert Erickson (ASHG poster: Wed Oct 17th, 2:00pm…

Published: 11 Oct 2018

Why some genes are more popular with researchers than others – and how the IMPC can help

New research finds that scientists are still studying the same 10% of human genes and ignoring the rest, highlighting the…

Published: 19 Sep 2018

A single gene mutation may have helped humans become optimal long-distance runners

In novel study, mice engineered to lack the same gene run stronger, longer and with less fatigue Two to three…

Published: 12 Sep 2018

Researchers block RNA silencing protein in liver to prevent obesity and diabetes in mice

Obesity and its related ailments like type 2 diabetes and fatty liver disease pose a major global health burden, but…

Published: 12 Sep 2018

Researchers outline game-theory approach to better understand genetics

Principles of game theory offer new ways of understanding genetic behavior, a pair of researchers has concluded in a new…

Published: 5 Sep 2018

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