Clinical genomics

Efficiently translating genomic research into the clinic is one of the most important steps in the development of the field. The clinic is where we will see things come to fruition.

New tRNA Sequencing Method Uncovers Microbiome Activity

A new high-throughput sequencing technique created by scientists at the University of Chicago will uncover how naturally occurring microbiomes respond to real-world conditions and diets. The technique, outlined in Nature Communications, directly analyses transfer RNA (tRNA) to give a clear picture of microbial communities’ reactions to environment changes including temperature variations and nutrient availability.

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.

Amgen and Entera Collaborate on Serious Illness Treatment Program

Amgen and Entera Bio are partnering up to develop new treatments for inflammatory disease and certain other serious illnesses using the Entera drug discovery program. The platform will be used to develop oral formulations for one preclinical large molecule program which Amgen has selected. Entera’s CEO said the collaboration would be an important validation test of the platform technology.

CRISPR Babies Could Face Unintended Consequences of Editing

The CCR5 gene has been researched by scientists since the 1990s, and has a number of roles which have not yet properly been uncovered. Loss of the gene’s function is known, however, to increase the risk of potentially fatal reactions to some diseases, and has shown an ability to enhance learning in mice.

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.

CRUK and AstraZeneca to Launch New Genomics Centre in UK

AstraZeneca and Cancer Research UK (CRUK) have announced that they will work together to open a new research centre in the UK, applying CRISPR and other functional genomics technologies to develop new cancer drugs. Specifically, the centre will study how genes and proteins interact with each other in cancer cells, and create disease models using genome-altering technologies based on this.

ClinGen Gets FDA Recognition

The US Food and Drug Administration (FDA) announced ClinGen as the first FDA-designated public genetic variants repository this week.