Specific heterozygous variants in HMGB1 cause an extremely rare congenital disorder, called BPTAS, which is characterized mainly by limb malformations including smaller-than-normal or extra [...]
A deep intronic GAA repeat expansion in the gene FGF14 causes a form of cerebellar ataxia manifesting in adulthood. In a study published in the New England Journal of Medicine, scientists [...]
Dominantly or recessively inherited variants in COL7A1 cause dystrophic epidermolysis bullosa (DEB), a devastating skin disorder. A gene therapy approach to treat DEB on a molecular basis has now [...]
Variants in a regulatory region of the gene HK1 result in the rare disorder of congenital hyperinsulinism. This has been reported in a study published in Nature Genetics. Coding HK1 variants have [...]
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 [...]
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 [...]
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 [...]
