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.

But in about 5% to 10% of cases, the cause is hereditary. This means that the cancer is due to a gene change, called a “mutation,” that’s passed down from a parent. Researchers have ...

Retinal dystrophy caused by biallelic variants in the AIPL1 gene ... Four children aged 1.0 to 2.8 years with confirmed AIPL1 mutations received a subretinal injection of rAAV8.hRKp.AIPL1 in ...

Today, leukemia patients undergo genetic analysis to identify mutations and select the most appropriate treatment. However, even among patients with the same mutation, disease progression and ...

Having two copies of the MTHFR gene mutation may raise your risk for certain health conditions, though more research is needed. You may have the mutation and not find out unless you undergo ...

Chinese scientists have identified a new bat coronavirus, HKU5-CoV-2, capable of infecting humans—raising fresh concerns about potential future outbreaks. Chinese scientists have found a new bat ...

ENPP1 Deficiency is an autosomal recessive disease and biallelic mutations are estimated to occur in approximately 1 in 64,000 pregnancies worldwide. Many individuals with just one copy of the ...

A patient with biallelic TP53 mutations and a complex karyotype obtained CR. The third FLT3-WT patient experienced significant reductions in bone marrow leukemic blasts during Cycle 1 and remains ...

The mutation increases levels of glycine decarboxylase, or GLDC, an enzyme responsible for regulating glycine in the brain. Glycine activates receptors for the neurotransmitter glutamate, called ...

It can cause symptoms such as breathing problems and hoarseness. Therapy that targets the mutation, such as EGFR inhibitors, may help. “EGFR” stands for “epidermal growth factor receptor.” ...

About OPGx-LCA5 OPGx-LCA5 is designed to address a form of Leber congenital amaurosis (LCA) due to biallelic mutations in the LCA5 gene (LCA5), which encodes the lebercilin protein. LCA5 ...