Precision medicine

Question 1

What is the differece between personalized medicine and precision medicine?

Answer 1

Personalised medicine aims to determine which medical treatments will work best for each patient.

Precision medicine uses medical interventions to alter molecular mechanisms, often genetic, that cause disease or influence a patient’s response to certain treatments.

• By combining molecular data with an individual’s medical history, targeted treatment and prevention plans are developed.

Question 2

Importance of correct splicing

Answer 2

Correct splicing of introns matters

Splicing together of different exons (e.g. mutations and/or incorrect exon skipping) can lead to proteins being out of reading frame – non functional

Question 3

What is ASOs?

Answer 3

Antisense oligonucleotides (ASOs) = short, single- stranded sequences of DNA or RNA designed to target specific RNAs to modify gene expression.

Question 4

What are the 3 ways ASOs exert their theraputic effect ?

Answer 4

Exert their therapeutic effects in various ways depending on their chemical structure

they can result in

1. RNA degradation
2. Preventing protein translation
3. Modifying RNA splicing

Question 5

What is SMA and what causes it?

Answer 5

SMA = one of the most prevalent genetic disorders in childhood

• Caused by loss-of-function mutations in a single gene: SMN1 (survival motor neuron 1)