Joan Han Studies Rare Diseases for Insight Into Obesity

Uploaded by IRPNIH on 01.11.2012

>> 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.