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BioWorld - Tuesday, June 6, 2023
Home » Topics » Genetic/Congenital, BioWorld

Genetic/Congenital, BioWorld
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The DNA double helix overlays a field of ACGTs and binary numbers.
Genetic/Congenital

Gene editing advances progress, by moving three steps forward and two steps back

May 19, 2023
By Mar de Miguel
No Comments
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.
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Illustration showing pangenome graph
Genetic/Congenital

Pangenome gives more panoramic view of human diversity

May 10, 2023
By Mar de Miguel
No Comments
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.
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Illustration of animals, DNA double helix
Genetic/Congenital

In Zoonomia project, evolutionary lens hones search for functional genomic variants

April 28, 2023
By Nuala Moran
No Comments
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.
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3D model of a protein molecule
Genetic/Congenital

Questions arise about nonsilent effect of synonymous mutations

April 25, 2023
By Mar de Miguel
No Comments
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.
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Gene editing illustration

Base editing rescues spinal muscular atrophy in vivo

April 10, 2023
By Mar de Miguel
No Comments
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. Scientists from the Broad Institute in Boston and The Ohio State University reversed the mutation using the base editing technique.
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Awareness ribbon with zebra pattern
Genetic/Congenital

Rare diseases yield genomic secrets through new computational approach

March 17, 2023
By Anette Breindl
No Comments
By adapting computational methods for dealing with large volumes of data, and slimming down that data, researchers at the Icahn School of Medicine at Mount Sinai have discovered previously unknown genetic associations with 19 rare diseases, and validated three of those associations.
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Svante Pääbo with skull
Genetic/Congenital

From ancient DNA, a Nobel Prize, and perhaps modern drug targets

Oct. 3, 2022
By Mar de Miguel and Anette Breindl
No Comments
The Nobel Prize in Physiology or Medicine 2022 was awarded to Svante Pääbo today "for his discoveries concerning the genomes of extinct hominins and human evolution." Pääbo, who is currently the director of the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, and his colleagues overcame extreme technical challenges to sequence the DNA of ancient hominids – because after tens of thousands of years, there is no such thing as aging well for DNA.
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