Genetics

Gene leads to malformation of the urinary tract

An interdisciplinary team of researchers under the direction of the University of Bonn Hospital have discovered a gene which is associated with a rare congenital anomaly of the urinary tract called classic bladder exstrophy. ...

Genetics

Researchers find new genetic cause of blinding eye disease

Combining the expertise of several different labs, University of Iowa researchers have found a new genetic cause of the blinding eye disease retinitis pigmentosa (RP) and, in the process, discovered an entirely new version ...

Genetics

Researchers discover treatment option for rare genetic disorder

Researchers from the Icahn School of Medicine used a novel genetic sequencing technology to identify the genetic cause of—and a treatment for—a previously unknown severe auto inflammatory syndrome affecting an 18-year-old ...

Genetics

Genomic detectives crack the case of the missing heritability

(Medical Xpress)—Despite years of research, the genetic factors behind many human diseases and characteristics remain unknown. The inability to find the complete genetic causes of family traits such as height or the risk ...

Diseases, Conditions, Syndromes

New mitochondrial disease identified in identical twins

In a set of identical twins, investigators led by researchers at Massachusetts General Hospital (MGH) and Children's Hospital Philadelphia (CHOP) have identified a mitochondrial disease not previously reported.

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