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Exome sequencing reveals genetic drug target for OCD
Following a whole exome sequencing study, researchers have found that mutations in the SLITRK5 gene could be targeted by drugs to treat OCD.
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Genomics
Genomics is the branch of molecular biology concerned with the structure, function, evolution, and mapping of genomes.
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Novel vectors for more efficient and less risky ocular gene therapy
Inherited blindness is the leading cause of vision loss in the working populations. Recently, the first gene therapy for the treatment of retinal dystrophy caused by mutations in the RPE65 gene became available. This gene therapy is based on adeno-associated virus (AAV) vectors injected under the retina. Subretinal injection is…
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The potential of epigenomic medicine in cardiology
Advances in genomic medicine are playing an increasingly important role in the field of cardiology. Better analysis and understanding of patient genomic and epigenomic information can enable more personalised patient treatment and medical intervention. Here, Professor John Giannios considers the potential to use genomic medicine to prevent, monitor, diagnose and…
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Reference genome comparison finds exome variant discrepancies
Scientists have found differences in 206 genes between the GRCh38 (hg38) and GRCh37 (hg19) human reference genomes.
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Drug Target Review – Issue 2 2021
This issue includes articles on novel AAV vectors to deliver ocular gene therapy, how phenotypic models of disease are being used in covalent fragment screening and the challenges and opportunities presented by automation in the life sciences. Also in this issue are features on stem cells, antibodies and hit-to-lead.
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Challenges and opportunities in gene therapy development
Despite the promise of gene therapies, significant challenges have emerged in the field. Dr Carsten Brunn discusses the current obstacles and opportunities when developing gene therapies.
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SARS-CoV-2 “Mexican variant” sequence analysed by researchers
Analysis of one million SARS-CoV-2 genome sequences has revealed a new variant named T478K, spreading mostly in Mexico.
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Computational method developed to map chromosome folding in 3D
Researchers created their new method to analyse chromosomes in 3D, revealing how misconfigurations play a role in cancer.
webinar
Advantages of including untargeted and targeted metabolomics into drug development and clinical trials
25 May 2021 | By Metabolon
Discover how metabolomics can support your biomarker strategy in drug development and clinical trials in this on-demand webinar.
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WHO and Switzerland launch BioHub for pathogen storage and analysis
The WHO and Swiss Confederation are set to launch a BioHub Facility, intended to facilitate the sharing of pathogens globally.
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Genomic analysis reveals cellular cause of type 1 diabetes
Combining two genomic methodologies, researchers have shown that pancreatic exocrine cells are implicated in type 1 diabetes.
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Novel CRISPR strategy developed for Duchenne muscular dystrophy
A CRISPR gene editing technique has been developed to restore dystrophin, which is missing in many Duchenne muscular dystrophy (DMD) patients.
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Structure of DNA actively involved in genome regulation, study shows
Researchers have shown that topoisomerase TOP2A eliminates negative supercoiling, causing an increase in the number of turns of DNA strands and impacting gene expression.
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Genetic profile of skeleton osteocytes mapped for first time
Researchers have revealed which genes are switched on or off in osteocytes, a bone cell found in the skeleton.
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Team identifies paediatric acute myeloid leukaemia drug target
Researchers have found that the gene mesothelin can be targeted by new antibody-drug conjugates to treat acute myeloid leukaemia in children.