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>> The history of the IGM is a long one,
and we are fortunate to build on a
great tradition of genetic medicine at Hopkins.
It starts in the 1950s, in the clinics
with Victor McKusick and Barton Childs,
two luminaries in our field,
and in the laboratories with the work
in the '60s and '70s of Dan Nathans
and Ham Smith, Nobel Laureates,
and thereafter with Haig Kazazian and Barbara Migeon
and other people who really were doing
cutting-edge research in genetics.
The overall goal of the IGM is to integrate genetics
into all of medicine.
We man the seven clinics,
we have a genetics inpatient service
and a very active consult service.
Research-wise, the investigators of the IGM
are very active in disease gene discovery,
in elucidating the architecture of complex traits,
in understanding the regulatory language of the genome,
in modeling human disease in model organisms,
and developing innovative new treatments
for genetic disease.
In the educational sphere, we have four residency programs,
one in categorical genetics and then combined programs
with medicine and genetics, pediatrics and genetics,
and maternal-fetal medicine and genetics.
At the level of graduate students,
we have a robust human genetics graduate program
with 75 students and 65 preceptors.
And then we are very active in the education
of medical students, our medical colleagues
and the lay public about the rapidly developing
exciting activities in genetics.
>> Myself as the head of the Center for Inherited
Disease Research and Dr. Cutting and Dr. Chris Gocke,
came together, along with Alan Scott
at our Genetic Resources core facility
a couple of years ago to start brain-storming
the idea of coming together to be able to really
combine our resources and be able to tackle
the issue of genomic medicine.
The strengths that CIDR had to bring to bear
were very much on the big data informatics side,
but we needed to partner with a clinical group here
in order to be able to offer clinical research testing
which is needed more and more right now because it's
a large effort to look into translational research.
>> And I think that between us we recognize
that we had the ability to put together
a high quality clinical genomic center,
that would not only replicate what's been done
by many other institutions, but we could take it,
we thought, one step further, relying already
on the resources we have here at Hopkins,
but the fact that we have other ones,
including OMIM, which can help us in annotating variance
that we find by genome analysis, and finally, we have
the medical institutions with which we closely work with
and the diagnostic lab and the moleculopath lab,
has worked with clinicians over the years to develop tests.
So we thought in many aspects, working with CIDR we could
provide both a fertile ground for research and also provide,
we thought, really top quality Exon level diagnostics
that would, in addition to providing the sequencing data,
provide high quality annotation
of the variance that we find.
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>> The Greenberg Center for Skeletal Dysplasia
is a wonderful center here at Johns Hopkins.
We see patients with all forms of bone conditions
and then we do clinical research related to those disorders
in those patients, and we have educational outreach
to trainees, to physicians in the community,
and to families taking care of those individuals.
>> In the Epigenetics and Chromatin Clinic,
we are able to see a large number of patients
with what we call the Mendelian disorders
of the epigenetic machinery.
And by doing so we are able to learn
how these patients are similar to one another,
with the hope that this will teach us something
about the function and epigenetics in the future.
>> We use zebrafish as an intermediate model organism,
to allow us to study regulatory sequences
and to allow us to manipulate the genome.
The primary thing that we want to achieve
is to gain a better understanding
of the regulatory architecture of complex disease.
To be able to use that research to discover
novel prognostic, diagnostic, therapeutic tools,
would be the ultimate goal for my research group.
>> So we're interested in neural cell fate decisions
which are the key transition points as cells start to
differentiate into different types of neurons
during development of the brain.
What we'd like to do is get a better understanding
of just how complex the brain is
and in order to do this we need to get a really good map
of how the stem cells, the progenitor cells
within the brain, actually become
the mature functional cell types.
>> If you're looking for an environment in which you want to
maximize your potential, maximize the possibility
for connecting basic research with clinical research
in the clinical environment and have a great place to live
and potentially to raise a family or just feel like you have
a true new home environment,
Hopkins is a great place to be,
and Baltimore is a great city in which to do it.
>> I chose to take part in the human genetics program
because I think it's a program that provides really
excellent training for translational work,
and by that I mean we do really rigorous
and excellent basic science but it's oftentimes
and frequently on clinically inspired questions.
So both of the projects that I work on
were directly inspired by patients
which we have seen here, in the IGM.
>> So my training experience here at the IGM has been great.
I wouldn't trade it for anything else.
I've learned a lot both here at the NIH,
as well as Johns Hopkins, and I think that
if I had to choose all over again, I would do it.
>> Yeah, I agree.
I think the training has been excellent.
We have so many resources and so much wonderful mentorship
here that, questions and the facilities are terrific,
and really it's been a fantastic opportunity.
>> I would tell a trainee thinking of joining the program
to not to hesitate and to come here as soon as possible.
This is the center of excellence.
Advances are made in this place.
Don't think twice, come here.
>> Agreed, don't hesitate.
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