Duchenne Muscular Dystrophy and Dystrophin

Dr. Nora Yang. Biography

 “This is a really exciting time to do biology!”
says Dr. Nora Yang. “We’re at a point now
with strategies like gene therapy where we can
see nearly biblical sorts of transformations and
healing in patients. I remember working with
one patient – an eight-year-old girl – with a
genetic eye disorder that caused blindness.
After an experimental treatment we had worked on, she had great joy in remarking that she could for the very first time see her beloved dog. I thought to myself, ‘Wow. It’s like, I was blind and now I see.’” Because of stories like that, Dr. Yang thinks everyone should be enthusiastic about doing science or at least being aware of the science happening today.

Dr. Yang is Senior Scientist in Therapeutics for Rare and Neglected Diseases and a Director of Portfolio Management and Strategic Operations at the National Institutes of Health (NIH). 

She remembers a fantastic college chemistry instructor that solidified her interest in science and helped propel her down that career path. Though she can’t remember exactly what topics were covered in
the course, she remembers that the instructor “energized the room.” She had always been curious about how life works and how parts fit together to make they body function, and her experiences with the chemistry instructor helped confirm she wanted to pursue that path. 

During college, Dr. Yang also loved sports and was a college athlete – playing volleyball and being on track and field.After college in China, Dr. Yang moved to the United States for graduate school at UC San Diego. Coming from a different county, learning a new language, and 

beginning as a brand new graduate student were all intimidating things. “It seemed like everyone else knew everything about everything and I worried all my questions were stupid!” she recalls. But the professors and other students were
very helpful and she gradually built up self-confidence. “When people take your ideas seriously and treat you as an equal, that makes a huge difference.” After graduate school, Dr. Yang wanted to apply the scientific ideas she studied in ways that could help sick people. This led her to jobs in the private sector at
companies that were developing therapies. She realized that bringing new
therapies to the public required an understanding of how businesses work, so
she wanted to supplement her training in that area. As a result, and with the
encouragement of the company she worked for, Dr. Yang obtained a master’s
degree in management from Stanford. She remembers the same feelings of self-
doubt and not being smart enough that she had when starting graduate school
coming up again at business school. They weren’t quite as bad that time, though,

Dr. Nora Yang. ( scientist spot light 9 )

 Before we get started on some new goals, let's take a moment to reflect on what we know about muscle physiology through the lens of a disease we've encountered before: muscular dystrophy. Muscular dystrophy came up in Week 8 and provides a useful context through which to understand the inner workings of muscle fibers.

We will explore this disease a bit more deeply through this spotlight on Dr. Nora Yang. As you view the resources, look for ways this reinforces the concepts we've been studying for the last week or so!

YangNora.JPGDr. 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 click here
Download click here to 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 Links to an external site. on muscular dystrophy.  Then review this video

Links to an external site. 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 a 250 word or more reflection with 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?