An 8-year-old boy, wheelchair-bound due to a rare genetic disease, HPDL deficiency, regained his mobility through an experimental drug, 4-HB. This groundbreaking treatment, bypassing the CoQ10 ...

A new syndrome caused by biallelic mutations -- those produced in both gene copies inherited from the mother and father -- in the FANCM gene predisposes the body to the appearance of tumours and ...

The second category included 29 genes that have been associated with autosomal recessive cancer-predisposition syndromes, with a focus on identifying biallelic pathogenic mutations.

A new syndrome caused by biallelic mutations -- those produced in both gene copies inherited from the mother and father -- in the FANCM gene predisposes the body to the appearance of tumors and ...

Inherited biallelic mutations in tumor-suppressor genes are very rare and often result in a phenotype that differs from the phenotype of a monoallelic mutation (Table 2).

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 ...

Patients with biallelic RPE65 mutation-associated retinal dystrophy experience progressive deterioration of vision over time, which can eventually result in complete blindness.

A new study published in Science Advances described the first two patients known to have mutations in both copies of BUB1, a critical gene for cell division.

Every person carries two copies of most genes, with one version, or allele, coming from each parent. Even though these copies tend to be functionally redundant, conventional genetic theory dictates ...

Biallelic mutations in the PYGM gene, which encodes for glycogen phosphorylase, cause McArdle disease, with a few cases documented to have hereditary macular dystrophies (HMDs) as an association. In ...