A crash course in genetics and genome sequencing

My son is in the second year of a Biomedical Science degree and one of his elected modules is applied genetics.  For many years this subject has fascinated me but most of my knowledge stems from my love of science, a love that began 30 years ago.

I seem to remember my first encounter with genetics involved Gregor Mendel’s pea studies, the dominant or recessive genes associated with blue or brown eyes, ear lobes and rolling tongues. My ability to recall the details has been impaired by a variety of useless and useful information I’ve attempted to force into my brain since leaving school.  I followed a different educational path, into computing and technology, so never reached the point of applied genetics.  I think I’d have enjoyed applied genetics had I chosen to follow that path.

My more recent research extends to a specific field of study – attempting to understand how four previous generations of women in my family succumbed to breast cancer when the BRCA genes are not present in our blood lines.  Fortuitously I had the chance to take a crash course in applied genetics and genome sequencing whilst helping to review my son’s latest project over the weekend.  The subject is just as fascinating as I remember and the body of knowledge has moved on significantly.

I discovered that there are perhaps 50 or more genes involved in breast cancer but at  present aside from BRCA our knowledge about their actions and interactions is somewhat limited.  We simply don’t understand enough about how each of the 50 genes contributes to increased risk or how they might combine to spark the development of breast cancer, recurrences or metastasis. The level of complexity involved in assessing how genes change, mutate, are switched on or off is phenomenal.  So today I agreed to become a media volunteer for Breakthrough Breast Cancer.  It’s a charity I’ve supported for more than 20 years through payroll giving and they have a strong focus on research.  Breakthrough’s mission is “dedicated to saving lives by finding the causes of breast cancer, improving detection, diagnosis, treatment and services.”  I’m happy to be helping them – whilst great progress has been made in the diagnosis and treatment of breast cancer far too many women (and some men) continue to die of this disease each year.

I’m hopeful that by understanding the genetics of breast cancer, our scientists will also unlock the secrets of a wider number of cancers and reveal the anomalies encoded in our DNA that cause other forms of illness too.  Knowledge really is power when it comes to health,  genetics and tackling disease.