Genetics 101

 

Our research study will investigate how genomic information will benefit and assist in providing care and management of newborns with hearing loss.  Through genetic information obtained in the newborn period we aim to identify genetic causes and potentially viral etiologies for hearing loss, provide precision diagnosis, and guide long term clinical management of the affected infant and family.

What is DNA?

DNA stands for deoxyribonucleic acid.  It is found in the cells of the body and contains the instructions to direct how the body grows, develops, and works.  Individual segments or parts of DNA are called genes.  DNA and genetic information are present in all the cells of your body.  The collective DNA and genetic information is called the genome.  Much of the genome is similar among people, but there are some differences.  We call these differences “genetic variations.”  Some of these genetic variations cause differences in appearance, like hair and eye color.  Other differences contribute to certain diseases or health conditions and some genetic variations do not affect a person’s health at all.  Recently, scientists have developed technology that allows them to read DNA.  This is called “genomic sequencing.”  Genomic sequencing is expensive so most of the time it is done as part of a research study such as ours.

DNA technologies help us learn the causes of many diseases, leading to treatments and improving the quality of life for the patient and those who care for them.  A major benefit of participating in our research study is the opportunity to obtain whole genome sequencing at no cost to you.