A heterozygous variant in ATP5F1B has been identified as causing a mitochondrial disease with failure to thrive despite excessive caloric intake. The results of a study published in The New [...]
A disturbed interaction between TBX15 and ADAMTS2 during embryonic development may cause a previously undescribed craniofacial malformation disorder. Researchers have investigated nine patients [...]
Inactivation of the BCL11A gene by CRISPR/Cas9 genome editing may be a therapeutic option to cure the most severe type of β thalassemia. An ongoing phase I/II study is evaluating the safety and [...]
Biallelic variants in WARS1 underlying autosomal recessive neurodevelopmental disorders have been reported in two recently published international studies led by researchers at the Institute of [...]
WARS1 is one of many key enzymes required for protein synthesis. Genetic variants in WARS1 are rare, with extremely limited evidence implicating it in a clinically heterogeneous autosomal [...]
Loss-of-function variants in SLC47A1 play a causal role in the development of kidney disease. This is one of the results generated by an extensive metaanalysis of genome-wide association studies [...]
In a young patient referred to the Institute of Human Genetics at the University Medical Center Göttingen, the clinical suspicion of Proteus syndrome was made and confirmed by molecular genetic [...]
Variants in the RRM1 gene may underlie a disorder that is caused by defective processes of mitochondrial DNA (mtDNA) replication and repair. The protein encoded by RRM1, ribonucleotide reductase [...]
