Genetics Class 2017: Week 1

I'm starting a new online genetics course called Case Studies in Personalized Medicine.

Here's the course description:  "This course will present short primers in genetics and mechanisms underlying variability in drug responses. A series of case studies will be used to illustrate principles of how genetics are being brought to bear on refining diagnoses and on personalizing treatment in rare and common diseases. The ethical and operational issues around how to implement large scale genomic sequencing in clinical practice will be addressed."

Why am I taking this course? My main motivation with these classes is always to learn as much as I can about how genetics works so that I can be in the best position to research and advocate for Joshua. It also lifts my spirits to put my brain to work :).

The target audience for this class is doctors with 5+ years of experience - so, as someone who could not even score an A in my undergrad Intro to Biology class, I'm sure I won't be in over my head at all.  (Opposite day!  Wish me luck!)

I'm going to blog my class notes each week (but this is the only time I'll put the link up on Facebook).  These notes will not attempt to be a comprehensive summary of the course - they are things that I find interesting, or relevant to learning about chromosome disorders.  If any of you follow along, it might give you a taste of whether you would want to take the course yourself, but will not in any way be a substitute for taking the course.  Here's the first set of notes --

What I learned in Week One:  

• This week started with a primer in the basics of genetics - things like what is a chromosome, what is DNA, what's a genetic variant, what makes a good study.  For example:  
• In the 23 chromosome pairs, one comes from the father and one comes from the mother.
• Mitochondrial DNA comes exclusively from the mother.
• RNA is single strand DNA.  
• Most DNA is non-coding and it's job is to help regulate the encoding DNA.  
• 1% of DNA actually encodes proteins.  
• 6 billion base pairs, 25,000 genes in a human cell.
• There were a couple modules on what makes a good study and what makes a good experiment.  I didn't take notes on these.
• Next, there was a lot of information about drug reactions.  Honestly, a lot of this was beyond my ability to understand without taking some additional biology and chemistry classes.  But here's a little bit:  
• Adverse drug reactions are a leading cause of hospitalizations and a not insignificant cause of death - this is why everyone you talk to in a hospital stay asks about drug allergies and reactions.
• There are lots of reasons why drugs don't work on a particular patient - genetics, reaction with other drugs they're taking, other environmental factors (food, exercise, etc.) cause interaction, patient does not take drug as prescribed, pharmacy gives wrong drug or wrong dose, etc.
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