Genetics … genomics, what’s the difference?
It’s in the Genes
Genetics is the study of the genes that are related to health and disease.
Genomics is the study of the sum total of an organism’s DNA that include genes and intergenic regions.
Genetic Inheritance of Complex Disorders
For support on these complex topics, Avellino offers genetic counseling for providers and patients receiving the results of our AvaGen™ genetic test.
Types of Genetic Disorder
Avellino’s Processes and Polygenetic Risk Scores – Genetic Testing for Inherited Eye Disease
For Monogenic Diseases:
For Polygenic Diseases:
At Avellino, we are studying polygenic diseases of the eye, including keratoconus and glaucoma, as well as monogenic diseases of the eye such as corneal dystrophies.
From the efforts of the Human Genome Project and subsequent research, we know while every individual is unique, at the genome level we are about 99.9% the same! The remaining 0.1% may seem small, but in actuality this percentage is what makes one person different from another, including our health. These variations in genomes is the reason why one person may be at risk for glaucoma, for example, while another person may not be.
A somatic variation is one that occurs after birth, while a person is born with germline variants. Both, however, are biomarkers.
The most common type of genomic variant is referred to as a single nucleotide polymorphism (SNP), pronounced “snip.” There is approximately one SNP for every 300 nucleotides, meaning a person can have an average of 10 million SNPs in their genome.
Hereditary eye diseases, monogenic or polygenic, are complex. Understanding individual risk shouldn’t be.
While genetic testing is quite common, such as prenatal and newborn genetic screenings or predictive testing for certain cancers, genetic testing for inherited eye disease is less so—and it can be difficult to understand the implications of the results.
Through Avellino, patients or providers can schedule a session with a genetic counselor to review the results of the genetic testing along with relevant family history information.
What’s more, we make it easy to gather all the relevant family history data through a simple app. And if someone is not sure what condition his late uncle had (as an example), he can invite family members to add information directly through the same app. He retains the power to accept or decline the additional information before it’s added to his history.
This data enriches testing, results, and reporting, and it’s part of what makes our precision health services accurate and highly actionable by healthcare professionals and patients.
Future Tools to Enhance Disease Detection and Broaden Avellino’s Pipeline Products
For our work utilizing CRISPR, we are currently pursuing two separate paths toward a gene therapy solution to corneal disease. Both of our programs are in flight via our partnership with Ulster University in the UK, where the team is currently focused on validating our discoveries and data on bench and animal models.
Our siRNA (small interfering RNA) program is designed to use “silencing RNA” via a topical treatment for corneal disease. Our CRISPR gene editing program is using a proprietary method to ‘knock out’ mutant variants related to corneal disease as a means to reduce/eliminate off-target effects.