The Center for Neurogenetics is a multidisciplinary research hub that brings
together neurologists, genetic counselors, bioinformaticians,
neuroscientists from the Brain and Mind Research Institute to work with the
patients that we serve here at Weill Cornell to bring to them an end to their
genetic diagnostic odyssey,
and to bring the most advanced treatments to their care.
At the Center for Neurogenetics,
we focus on both monogenic disorders that are caused by mutations
in single genes,
as well as complex genetic disorders like late onset
Alzheimer's or multiple sclerosis, forms of Parkinson's disease,
and in children,
structural birth defects like spinal bifida or developmental delays like
autism.
Patients come to the Center for Neurogenetics through a few different pathways.
Some are referred by their neurologist or by their geneticists because they've
not been able to find answers through standard testing that's available on a
commercial basis.
Some patients find us on their own through searching the web and finding our
website and connect directly with us.
And these are typically patients who've had extensive testing through their own
doctors,
and yet have not been able to get a diagnosis and find a reason for their
symptoms.
Julio's daughter is a perfect example of the work that we do at the Center for
Neurogenetics.
She is someone who we had seen in our neurology clinic for many years,
but never had a name or a diagnosis to explain her symptoms.
Through investigations, we very recently were able to come up with a specific
diagnosis and an understanding of exactly what genetic change is causing her
symptoms. Once we had that diagnosis,
we were able to then connect with researchers who are studying her disorder.
Hopefully this will lead to targeted treatments and will make a difference in
the lives of children like Nicole.
I feel relief.
I feel hope because I find that
the center is the place that really cares about my daughter's condition and they
making an effort to find a way how to treat her, and
improve her life condition as well for us.
So Robin is a patient with a personal and family history of Parkinson's disease.
And as we know, Parkinson's is very common in the general population.
And she was really looking for an answer to see why she had this history.
And so clinical testing was not diagnostic. We didn't find an answer.
Now working with her tirelessly to see whether or not the research realm can
help us give those answers for her and family members.
The importance of collaboration between patients and scientists,
whether they're clinicians or research scientists in terms of curing
disease is absolutely central.
And I would gladly give of whatever,
whatever genes I can offer to the Center for Neurological Research because it's
saving my life, because someday it could save my son's life.
There has been an extensive amount of research looking at the genetic risk
factors associated with multiple sclerosis and the genome wide
association studies have been able to identify over
200 genetic variants associated with developing multiple sclerosis. However,
there's very little data associating this polygenic risk score
associated with the clinical phenotype of the disease,
or even the MRI phenotype of the disease. So through this collaboration,
we can do genome sequencing on these patients and determine whether there is a
genetic association to this cluster determination.
Computational genomics involves the collaboration between physicians in the
center and computer scientists around the analysis of very large data sets
with the goal of unraveling functional mutations,
whose function is sometimes hard to understand.
These analysis involves very often the use a machine learning,
artificial intelligence as tools to understand better the functional mutations,
many of these mutations. Then once we understand the function,
they can be tested in tools such as organoids, uh,
which facilitate the interpretation,
the further interpretation of some of these mutations.
Our work led us to meeting, uh,
an adult patient with cerebellar ataxia through our work,
where we were able to correct a misdiagnosis of a spinal cerebellar
ataxia in the patient, as well as her brother.
We offered detailed genetic testing as
well as confirmatory biochemical testing to show that both siblings didn't
actually have a spinal cerebellar ataxia,
but had a very rare adult presentation of Niemann-Pick type C.
By confirming and making this diagnosis,
we were able to offer this sibling pair
medication that would mitigate the visceral progression of the
disorder. Additionally,
the verification of their diagnosis would qualify them for a clinical
trial for medication that would slow down the neurological
progression of this condition.
Patient derived neurons really give us a way to look at these disease
processes and ways to treat them in a human model.
Typically animal models are used to look at human diseases.
And the problem here is that often we'll see results or
responses to certain drugs in animals that don't accurately translate into
our human patients.
But this gives us a way to look at the exact same system we would want to affect
in our patients by deriving from skin cells,
human neurons. Thus,
we can take our results from these models directly to clinic and apply them in
trials to treat our patients with new therapies.
So one of the major issues in leukodystrophies is often the genotype
phenotype relationship is not tight. So based on your genotype,
I can't tell you what you're going to do in terms of natural history. So,
but the Center for Neurogenetics allows me to do is collaborate with other
institutions to help identify genetic markers that may predict which patients
are going to get sick. Doing so early on,
allows us some time to intervene and early intervention,
especially with these specific gene therapies will help to maximize neurological
outcomes.
Our center is all about contributing to the future precision medicine
in neurological disorders.
This is something that has been very useful in the treatment
of cancers and the very next specialty to benefit
most from precision medicine is neurology.