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Acid Reflux causes and Treatment

Rare Diseases and Obesity – Joan Han, NIH Clinician Scientist

Rare Diseases and Obesity – Joan Han, NIH Clinician Scientist

>>My name is Joan Han, and I’m
a pediatric endocrinologist. I did my training here at the
NIH for pediatric endocrinology and then I stayed afterwards
to continue my research career. Our focus is studying
rare genetic disorders that are associated with obesity
and neurocognitive dysfunction to try to understand different
neuroendocrine factors that influence this. So when I was looking at
different endocrinology programs to do training, the thing that
I wanted most was an opportunity to do clinical research as
well as basic science research, because I wanted
to combine the two. And so the idea of
having a bench and bedside focus was
really important to me. Studying rare genetic disorders
here, we can bring patients from all around the world. In addition to WAGR
syndrome, which is caused by chromosome 11 deletions, we
also study isolated mutations within genes on chromosome
11, including PAX6, and we also study
Prader-Willi syndrome, which causes cognitive
impairment and hyperphagia. Most of the patients
who come to the NIH with these rare genetic
disorders have serious health problems and significant
complications from their conditions. And what’s interesting is,
actually James is the opposite. He’s actually probably
the least affected of all the patients
we’ve seen so far. And so I think one of the
questions he asked was well, you know, since I don’t
have problems, I don’t know if I’m even worth studying. I explained to him that
actually what sets him apart from the other patients may very
well hold the clue or the key to be able to find treatments
for all the other patients who carry the same
genetic change that he has but somehow they seem
to have a worse outcome. So maybe he has other genetic
or environmental factors that are making a difference in
his health that we might be able to apply and improve the
health of other patients. From my perspective, every
patient who comes here is so generous to give of their
time, particularly when, you know, when the patient’s
a child, for their parents to bring their child here to
participate in research studies. I consider that such an
incredible, generous sacrifice on their part, and what amazes
me every time is at the end of the visit the families
say thank you to us and I don’t even
feel that, you know, it’s me that should
be grateful to them. Every one of these families
has been a vital part of our research and without them
it would be impossible for us to learn about these
rare diseases.

One Reply to “Rare Diseases and Obesity – Joan Han, NIH Clinician Scientist”

  • #NIH IRP researchers are a #rare breed: http://bit.ly/1lVPwPk #raredisease

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