Healthcare

Genomics will change what patients expect from their provider, as well as change how physicians treat them. Before this happens, education on both sides is needed. This month we look at some of the big talking points.

Festival of Genomics 2019: The Survival Guide

With just under two weeks till the festival, it’s time to start thinking logistics. The more scatter-brained of our readers needn’t worry, however: we’ve got everything you need covered in this handy guide, whether it’s things to remember before you arrive at the festival, the best things to do once there and the last couple of things to remember when it’s all done.

Optimising RNAscope® for Organotypic Cell Cultures

Laurent Neau, Lead Technician at the Philip Morris International Tissue Research Laboratory, talks about RNAscope®, a novel and increasingly popular technology developed by Advanced Cell Diagnostics, Inc. for the in situ analysis of RNA within fixed tissues, now optimised for use on 3D, organotypic cell cultures. Doing this has the potential to provide a window into gene expression as it occurs in the human body.

Injectable RNA Treatment Helps Cure LCA Blindness

Data has shown the success of a new therapy to combat Leber congenital amaurosis (LCA), one of the leading causes of blindness in children, in LCA patients with CEP290 mutations. CEP290 acts as a barrier between two compartments of photoreceptor cells in the eye which convert light into signals, creating vision. Blindnesses caused by CEP290 […]

Hepatitis Drug Could Help Delay Progress of ALS

Telbivudine, a drug currently in use for treating patients with hepatitis, could be of use in significantly slowing the progression of Amyotrophic lateral sclerosis (ALS), scientists from the University of Alberta have announced.

No-Incision CRISPR Reduces Genetic Obesity in Mice

A modified version of CRISPR has been used to reverse genetic obesity in two different mouse models without editing any genes. The technique uses the guidance system in CRISPR to target certain genetic sequences and amplifies existing gene activity to ramp up protein production.

International Study Finds 11 New Epilepsy Genes

Eleven new genes associated with epilepsy have been discovered by an international team of scientists, advancing knowledge of the underlying causes of the condition and potentially helping in the development of new treatments.

Reprogrammed Skin Cells Shrink Mouse Tumours

Personalised tumour-detecting cells from adult skin cells have been used to shrink brain tumours in mice by up to 5%, scientists have revealed. While the strategy has not yet been fully tested in people, it could in the future give doctors the ability to develop a custom treatment for certain cancer types.

Genetic Heart Test Used to Identify Risk of Severe Cardiomyopathy

Scientists from the University of Pennsylvania have created a test using gene-editing tools such as CRISPR to identify a gene variant responsible for severe hypertrophic cardiomyopathy (SHC). SHC is an often-familial disease which thickens heart walls and is linked to a variant in the TNNT2 gene.