The Hidden Answers in Our Cells: Using Genetics to Understand Diseases and Disorders

Histology is often the forgotten world of pathology. This talk looks into the sample journey from knife to microscope, why each step of the procedure is important and how the work we carry out directly impacts patient outcome. We will follow an interesting case study to try and find the answers hidden within the cells.

An important number of diseases is conditioned by our genetic make-up. Particularly, age-related disease can be caused by genetic problems that are difficult to study. These include dementia and cancer; and also early-life issues like congenital deafness.
Often, the specific mutations in any faulty gene have never been described, or worse, nothing is known about the function or importance of the gene.
Using animal models -mice, fruit flies, frogs, etc- we can recreate genetic alterations and study the way they cause disease. This not only solves diagnostics, but can provide clues for treatment.

FAM177A1-related neurodevelopmental disorder is a rare genetic disorder, with patients facing symptoms like severe seizures, macrocephaly, global developmental and intellectual delay. It lacks information around the disorder, making treatment difficult. Collaborations are becoming essential to tackle scientific problems affecting human health, strengthening and aiding possibilities of diagnostic and therapeutic options. One of these includes the use of the model organism Xenopus tropicalis to model human FAM177A1 changes, obtaining a better understanding of the disorder.