An 8-year-old boy, wheelchair-bound due to a rare genetic disease, HPDL deficiency, regained his mobility through an ...

A new inherited DNA repair deficiency syndrome called DIAL syndrome, which increases blood cancer risk and chemo toxicity has ...

This clinical trial was designed to evaluate the safety and preliminary efficacy of subretinal gene therapy with OPGx-LCA5 in patients with inherited retinal degeneration due to biallelic ...

The results revealed that about 4.7% of these patients carried two faulty copies of the TRIM63 gene, a situation known as biallelic mutation.

A gene therapy to correct a mutation that causes maple syrup urine disease prevented newborn death and normalized growth in a calf as well as in mice.

The multidisciplinary team looked at a genetic mutation called biallelic PI4KA, which impacts B cells in the body (the ones that produce antibodies) and is important for helping our immune system ...

The manuscript by Chen et al. is improved and demonstrates successful gene editing in sheep embryos to obtain biallelic mutation of Mstn and FGF5. Despite the improvements in the revised manuscript, ...

This work is published in The Lancet, in the paper, “ Safety and efficacy of ATSN-101 in patients with Leber congenital amaurosis caused by biallelic mutations in GUCY2D: a phase 1/2 ...

This bent bone dysplasia resulted from biallelic mutations in LAMA5, the gene encoding the alpha-5 laminin basement membrane protein. This finding uncovered a mechanism of disease driven by ECM-cell ...

The girl—18-month-old Opal Sandy from Oxfordshire—received an experimental treatment for auditory neuropathy, a condition that results from a mutation in a gene called Biallelic otoferlin gene ...

Generating mice with point mutations can be challenging, especially when biallelic mutations of the target gene would lead to sterility or lethality in mice.

Grangeon, L., Wallon, D., Charbonnier, C., et al. (2019) Biallelic MYORG Mutation Carriers Exhibit Primary Brain Calcification with a Distinct Phenotype. Brain, 142 ...