Fabry disease is a metabolic disease characterized by a deficiency in the lysosomal α-galactosidase enzyme caused by mutations in the GLA gene. This leads to substrate accumulation in the lysosomes, cellular dysfunction and organ damage.
Gene therapy technology makes it possible to select diseased or mutated cells from a patient, modify them in the laboratory and reintroduce them to the body to treat different disorders. This is known as ex vivo autologous gene therapy. The difference with allogeneic cell techniques is whether the donor is oneself (autologous) or a compatible person (allogeneic), which would provide healthy cells that do not need genetic modification.
The discovery of DNA was a milestone in the history of science that led to a breakthrough in biomedical research. By associating disease and genetics, genome correction techniques were ultimately developed that are supposed to work in the same way that antibiotics and antivirals block pathogenic microorganisms: by directly attacking the causes of disease.
By analyzing gene expression patterns in the placenta of nearly 150 pregnancies and comparing them to fetal gene expression in the brain, researchers from the Lieber Institute for Brain Development have gained new insights into the importance of placental tissue in setting the risk trajectory for the development of schizophrenia. The work was published in Nature Communications on May 15, 2023.
The human genome, the sequence that represents the DNA of our species, was built with a single individual as a model. This all-in-one standard didn’t include the gene variations that make us different or explain why some people develop certain diseases. Four simultaneous studies from the Human Pangenome Reference Consortium have published a sequence based on 47 individuals, beginning to capture the genetic diversity that defines humans.
A base-by-base comparison of the genome sequences of 240 species of mammals has pinpointed sites in the human genome where mutations are likely to cause disease. The sites are all perfectly conserved across the mammalian family tree over 100 million years of evolution, indicating they underlie fundamental biological processes that do not tolerate diversity or change very well.
Synonymous or silent mutations do not change the sequence of the protein that they encode. With some exceptions, they do not trigger any effect. Last year, however, a study by researchers from the University of Michigan tried to refute this concept after finding that they altered the protein function. But breaking dogmas can have answers. A group of scientists from various institutions has found that this work could have a method error.
The editing in human cells and in mice of the survival motor neuron 1 gene (SMN1) restored the levels of SMN protein that the mutation of the SMN2 gene produces in spinal muscular atrophy (SMA). Scientists from the Broad Institute in Boston and The Ohio State University reversed the mutation using the base editing technique. “This base editing approach to treating SMA should be applicable to all SMA patients, regardless of the specific mutation that caused their SMN1 loss,” the lead author David Liu, a professor and director of the Merkin Institute of Transformative Technologies in Healthcare at the Broad Institute of Harvard and MIT, told BioWorld.
Liver glycogen storage disease type IX (GSD IX) accounts for 25% for all GSD cases, with a prevalence of 1 out of 100,000 patients. GSD IX is caused by deficiency in phosphorylase kinase (PhK), which is comprised of four subunits (α2, β, δ and γ2), with γ2 being the catalytic domain.
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