Rare Diseases - Scientists discover molecular defects associated with rare genetic disorder in children
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 Researchers use massive sequencing methods to identify rare genetic bone disorderResearchers use massive sequencing methods to identify rare genetic bone disorder
 
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.
 
   Scientists discover molecular defects associated with rare genetic disorder in childrenScientists discover molecular defects associated with rare genetic disorder in children
 
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.
 
   Genetic testing technology is extremely unreliable in detecting very rare genetic variantsGenetic testing technology is extremely unreliable in detecting very rare genetic variants
 
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 discover rare genetic disorder that affects the brain, heart and facial featuresResearchers discover rare genetic disorder that affects the brain, heart and facial features
 
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.
 
   Study uncovers rare genetic syndrome caused by mutations in gene SATB1Study uncovers rare genetic syndrome caused by mutations in gene SATB1
 
Advances in DNA sequencing have uncovered a rare syndrome which is caused by variations in the gene SATB1.