Researchers of the "Cell Biology and Physiology-LABRET" group of the University of Malaga (UMA), together with the Networking Biomedical Research Center in Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), have described a new genetic skeletal disorder based on a precision medicine strategy.
Damien D'Amours and his team at the Ottawa Institute of Systems Biology needed three years to discover the molecular defects associated with the LIC Syndrome, a serious genetic disorder that affects young children and result in acute respiratory distress, immune deficiency and abnormal chromosomes.
According to a new study, a technology that is extensively used by commercial genetic testing firms is “extremely unreliable” in identifying very rare variants.
Researchers at the National Institutes of Health have discovered a new genetic disorder characterized by developmental delays and malformations of the brain, heart and facial features.
Advances in DNA sequencing have uncovered a rare syndrome which is caused by variations in the gene SATB1.
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