This software was written by Matthew Wakeling at the University of Exeter, and was presented at the 2017 ASHG meeting in Orlando, Florida. Wakeling, MN, De Franco E, Hattersley AT, Ellard S. Making ...

If you have two copies of the same version of a gene, you are homozygous for that gene. If you have two different versions of a gene, you are heterozygous for that gene. In diseases caused by dominant ...

Heterozygous genotypes can affect traits like eye and skin color where one allele may be dominant over another. Certain diseases like sickle cell anemia and cystic fibrosis can have a heterozygote ...

LIBerate-HoFH study was part of a global registration-enabling Phase 3 program of > 2,900 patients Biologics license application for lerodalcibep submitted to FDA in December 2024 ...

What Is Homozygous Familial Hypercholesterolemia? Homozygous familial hypercholesterolemia is a disorder where it is hard for your body to remove LDL "bad" cholesterol from your blood. The disease ...

The evaluation committee considered evidence submitted by Ultragenyx, a review of this submission by the external assessment group (EAG), and responses from stakeholders. See the committee papers for ...

There is a simple discount patient access scheme for evinacumab. NHS organisations can get details on the Commercial Access and Pricing (CAP) Portal. Non-NHS organisations can contact ...

The APOE4 variant may be more than just a genetic risk factor for Alzheimer's disease, new data from several cohorts suggested. Clinical, pathological, and biomarker changes indicated that APOE4 ...

Background: Protein arginine methyltransferase 5 (PRMT5) is an enzyme that catalyzes the transfer of methyl groups from S-adenosylmethionine (SAM) to the arginine residues on histones and other ...

The ORION-5 trial indicated that inclisiran is not superior to placebo in reducing LDL-C between baseline and day 150 among patients with HoFH who are already on maximal doses of statins and other ...

Homozygous, or homozygosity, refers to the inheritance of genes from each biological parent. Inheriting faulty genes from both parents can cause a person to develop the associated condition. Genetic ...

The study was approved by the local ethical committee of Center of Excellence in Genomic Medicine Research, King Abdulaziz University Jeddah, ethical approval number (013-CEGMR-02-ETH). A written ...