With the growing awareness of the importance of family history information as well as increasing access to genetic testing, more people are finding out that they may be at risk for a genetic disease. Sometimes, this knowledge comes before that individual is ready to...
What is Smith-Lemli-Opitz syndrome? Smith-Lemli-Optiz syndrome (SLO) is an inborn error of cholesterol metabolism that results from the reduced activity or absence of the enzyme 7-dehydrocholesterol reductase. This enzyme controls the last step in the formation of...
Autosomal recessive is a pattern of inheritance. Genetic diseases are caused by changes, also called mutations or pathogenic variants in genes that cause the gene not to work properly. We inherit two copies of each gene from our parents; one from our mothers and the...
Deciding to undergo predictive genetic testing for an adult-onset, incurable condition such as Huntington’s disease (HD), frontotemporal dementia or familial amyotrophic lateral sclerosis (FALS) can be difficult for at-risk individuals. When an individual has a...
One of the most recent developments in the field of genetics is called genome editing. This group of scientific techniques allows for the addition, removal, or modification of DNA. CRISPR is a method for genome editing that has gained popularity as it is considered to...