In opposition to a view of constant genome shaping human brain, specific biochemical changes on a level of individual neurons may play an essential role…
Novel method for detection of cancer driver mutations
A new method of cancer genome analysis have led to identification of rare mutations contributing to cancer development. The main challenge of cancer genomics is…
New Mendelian disorder caused by mutations in PIK3C2A gene
Children with multiple-system abnormalities have been found to have improper phosphatidylinositol because of PIK3C2A mutations. Three unrelated families had five individuals with symptoms: skeletal and…
Contest “Critical Assessment of Structure Prediction” won by DeepMind’s AlphaFold
Global experimental contest of protein folding calculations has been won by the machine learning newcomer – AlphaFold from DeepMind startup. Prediction of protein folding always…
Two variants associated with the risk of pulmonary arterial hypertension
Variants near SOX17 gene and HLA-DPA1/DPB1 have been found to have been found in genomes of individuals with pulmonary arterial hypertension. 2085 patients involved in…
Genomics England sequenced 100,000 genomes in five years
The UK’s initiative to sequence 100 thousand genomes reached its goal after operating for five years and five months. Whole-genome sequencing was offered to patients…
Novel system for brain therapy
Protist parasite Toxoplasma gondii has been engineered to deliver proteins and potentially genetic therapy compounds to specific cells in the brain. The barrier between brain…
Insertion of fetal hemoglobin gene reduces symptoms of sickle cell disease
Two patients receiving gene therapy have reported significant improvement in the quality of life. A pilot phase of a clinical trial that started one and…
Deregulation of FKBP5 gene rises the risk of cardiovascular diseases
Normally repressed FKBP5 gene was found to be activated in individuals with cardiovascular and immune diseases. The study involved 3131 individuals and assessed “epigenetic derepression”…
Novel mutations in PRPF31 gene cause retinitis pigmentosa
A mechanism of novel mutation in genetic disease retinitis pigmentosa have been determined using combined bioinformatic and clinical methods. Change in PRPF31 gene at position…