By Paul Henry / in , , , , , , , , , , , , , , , , , , , /

My name is Peter Quino and I’m currently professor and chair of the Department of Neurology here at the University of
Maryland School of Medicine. I came here to Maryland in July of 2016 I’ve been
serving as chair My background is that I’m a clinician scientist, so I have an
MD and a PhD. I did my MD at Yale. I did my graduate work at Boston University and
then I did my neurology residency training at the University of
Pennsylvania Stayed on to do a postdoctoral fellowship at Penn for
three years. Then joined the faculty there as an assistant professor I was there for 22 years; moved briefly to Temple University in Philadelphia to
head up a Shriners Hospital pediatric research center and I served as vice
chair of the department of neurology there and then came here to Maryland. I’m
a board-certified neurologist, I’m also a fellowship-trained epileptologists and
my specialty is epilepsy. The practice of patients that I have are individuals who
have intractable epilepsy; that’s to say patients who don’t respond to
conventional medications and are often being considered for epilepsy surgery. I see adults with autism. I see adults with intellectual disabilities and I’m very
interested in neurogenetic disorder so, disorders that cause abnormal brain
development, abnormal brain function epilepsy, autism and intellectual
disability. So I open this practice really in the late 1990s for adults with
developmental disabilities thinking I was going to see maybe one patient every
couple of months and I started seeing six plus new patients a week. So there’s
many, many adults out there who have intellectual disability, epilepsy and/or
autism who really have nowhere to turn. The reason this is interesting is
because a lot of these patients have a syndrome a clinical syndrome but no real
identified cause. And with the revolution in molecular genetics that’s been taking
place a lot of these individuals are turning out to have genetic disorders. We
can now screen for these genes using commercial screening panels and we can
come back to families and say after 35 or 45 years wow we found that there’s a
single mutation in this particular gene. Now we don’t necessarily have cures for
all of these disorders but it does allow families to be tied
into other individuals who suffer from the same syndromes. There are evolving
clinical trials now for particular gene defects so you can connect individuals
to these clinical trials. And I find for many patients and their families it
provides a very comfortable network of other individuals that they can share
their stories with. So it really is kind of a niche practice but one that I think
has answered a lot of needs for a lot of individuals. My laboratory research is really uses many different technologies to study the broad problem of
developmental brain malformations. And so what we are interested in is the
molecular and cellular mechanisms that cause the brain to not form correctly
during fetal development. The clinical consequence of abnormal brain
development is actually pretty significant most of these patients have
severe and intractable epilepsy many of them have intellectual disability and a
percentage of them also have autism spectrum disorder. so the work really is
looking at the molecular genetics of these disorders, trying to trying to
understand and identify specific genes that cause these disorders and then also
trying to use that information to understand potential new therapeutic
pathways that we can use to treat these disorders

Leave a Reply

Your email address will not be published. Required fields are marked *