During the recent American Society of Human Genetics (#ASHG15) conference I met with Dr Hans T Bjornsson, who is Director of the Epigenetics and Chromatin Clinic at Johns Hopkins University School of Medicine, USA. This is a clinic that focuses directly on the epigenetic basis of diseases (that are known to have an epigenetic component), through basic research and patient clinics.
At Clinical Epigenetics we’re indeed very excited to see such an institute performing important medical research. We hope this will be a growing trend, generating important epigenetic data than can then be shared between clinics internationally.
Why have a clinic dedicated to epigenetic disorders?
With our Epigenetics and Chromatin Clinic (ECC) we hoped to create a clinic that would see a large number of patients with either disruption of genomic imprinting or genetic defects of the various components of the epigenetic machinery; either category would be expected to lead to disruption of epigenetic marks.
Such a clinic would allow us not only to provide optimal care for these patients, but also allow us to learn some fundamental truths about epigenetics. As epigenetic technologies improve, the measurement of epigenetic modifications may become increasingly important for clinical medicine, either as a prognostic marker or a measure of therapeutic efficacy for any potential therapies.
Are there other clinics that you’re aware of which are dedicated to epigenetics?
As far as I know there are no other clinics that have exactly this clinical scope. However, we recently hosted a large Kabuki syndrome conference at Johns Hopkins, and there were several physicians that attended this conference that are interested in starting an Epigenetics and Chromatin clinic at their home institutes.
We are excited to eventually conduct clinical trials in this patient population through our clinic”
How do you hope understanding basic epigenetic principles will help to improve the lives of patients with epigenetic disorders?
We hope that a deeper understanding of epigenetics as it relates to the severity of human disease will allow us and others to develop therapies that decrease the disease severity in this patient population.
What is the nature of the work being performed at the clinic?
Currently we are mainly building expertise and working to collect clinical data. It is our hope that by having a limited number of providers seeing our patients with these disorders, we will be able to offer better care for this patient population but at the same time these providers will be in a position to recognize recurring subtle phenotypes that are part of these disorders but had not been appreciated previously. This clinic therefore, may lead to the extension of some of these disease phenotypes.
…hopefully we can help bring some of these potential therapeutic strategies to the clinic in the near future”
How close are you to running human trials?
We are excited to eventually conduct clinical trials in this patient population through our clinic. However, the phenotype that we are most interested in is intellectual disability. Currently, we are performing prospective studies to try to see whether we can identify reliable outcome measure that could be used in future clinical trials. Once we have robustly defined robust outcome measures, we will move toward clinical trials.
Much of your research focuses on Kabuki syndrome, how might we hope to treat this rare disease in the future?
My laboratory is focused on studying Kabuki syndrome, a rare genetically determined cause of intellectual disability. A mouse model of this condition demonstrates hippocampal memory defects and a deficiency of adult neurogenesis. Our group has shown that agents that inhibit histone deacetylases can rescue these problems. This indicates that Kabuki syndrome may be a treatable cause of intellectual disability and hopefully we can help bring some of these potential therapeutic strategies to the clinic in the near future.
Are many epigenetic diseases expected to have reversible phenotypes?
Epigenetic modifications are thought to be somewhat reversible. If abnormalities of epigenetic modifications are central to the pathogenesis of these disorders and these problems are ongoing in postnatal life one should be able to treat many of these disorders with agents that target epigenetic modifications.
To find out more about the work performed at the Epigenetics and Chromatin Clinic:
- Bjornsson lab video
- Epigenetics and Chromatin Clinic
- Recent Science Translational Medicine publication
Sam Rose
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