Rare diseases caused by mutations

Dr. Nora Yang is Senior Scientist for the Rare Diseases unit at the National Institutes of Health and she leads research efforts on treatments for these diseases. She has published a number of recent papers describing efforts to develop “gene therapy” treatments for diseases, like muscular dystrophy.

1) Please read a brief biography for Dr. Yang.

2) We’ve already learned a bit about muscular dystrophy, but we will review two more videos regarding this disease as a way to refresh our ideas about a variety of concepts we’ve studied.  First review this video ( https://www.youtube.com/watch?v=Ebu8W8Osuxk ) on muscular dystrophy. Then review this video ( https://www.youtube.com/watch?v=3PHhTtb1OVA ) on gene therapy for muscular dystrophy. This is directly from the research group with which Dr. Yang works!

–In the videos, pay special attention to terms we’ve recently studied, like actin, CK, fibrosis/scar tissue – and terms from earlier in class – chromosomes, genes, nucleotides, codons, replication, stop codons, exons, and amino acids!–

After reviewing these resources, write your responses. You might wish to discuss any or all of the following topics:

1)  What was most interesting or most confusing about the these resources?

2)  What did you learn about how muscular dystrophy impacts muscle fiber and sarcomere physiology?  What did you learn about how muscular dystrophy and gene therapy impact transcription and translation?

3)  What do these resources tell you about the types of people that do science?

4)  What new questions do you have after reviewing these resources?


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