Identifying causal factors for Mendelian and common diseases is an ongoing challenge in medical genetics1. Population bottleneck events...
20 months ago

Any organism is a by-product of both its genetic makeup and the environment. To understand this in detail, we must first appreciate some...
45 months ago

DNA is the genetic material that we inherit from our parents. Genes are sections of DNA that provide instructions for making proteins.
20 months ago

Last reviewed October 13, 2022 by Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham,...
15 months ago

In this study, we identified 25 genes harboring protein-altering sequence variants with a strong deficit of homozygosity (10% or less of predicted homozygotes).
15 months ago

A genome consists of genes, which are segments of DNA that tell cells how to function in different ways. Learn more about these terms here.
21 months ago

RRMS is the most common course of MS. If you have RRMS, you will experience clearly defined relapses of new or increasing neurologic symptoms.
5 months ago

Emphysema is pathologically defined as an abnormal permanent enlargement of air spaces distal to the terminal bronchioles, accompanied by the destruction of...
5 months ago

Metabolic epilepsy usually shows in infancy or early childhood with seizures, abnormal movements, & more. Most metabolic causes of epilepsy are inherited.
29 months ago

They restored partial hearing to mice with a recessive mutation in the gene TMC1 that causes complete deafness, the first successful example of genome editing.
51 months ago