World-renowned scientists to speak at Precision Medicine in Child Health research day – UCalgary News

Posted: April 5, 2017 at 8:47 pm

Who would have ever thought that some forms of blindness could be repaired? Ian MacDonald is a pioneer in gene therapy as a treatment of genetic eye diseases. The ophthalmologist will be one of two external speakers at the Alberta Childrens Hospital Research Institute (ACHRI) symposium Wednesday, April 19 at the Foothills Campus. MacDonald, a professor in the Department of Opthalmology and Visual Sciences at the University of Alberta, will speak on Novel Therapeutic Approaches to Human Disease The Example of Ocular Gene Therapy. We spoke to him briefly about his research.

Q: Why are ocular diseases at the forefront of precision medicine?

A: The eye is an attractive target for precision medicine and gene therapy as it offers a readily accessiblesite for surgical intervention and injection, is relatively immune-privileged, andtreatment of only one eye allows the non-treated eye to serve as a control for the experimental therapy.

Q:Is this the right time to pursue research in precision medicine?

A: Now is definitely the right time to pursue research in precision medicine. Phenotyping in human ocular heritable disease is advanced and we can now make clinical decisions backed up by molecular genetic confirmation. With new tools ofnext generation sequencing, we have a lot to offer in terms of precision medicine to our patients and families.

Q:How important is basic research to your accomplishments?

A:The first ocular gene therapy trial for choroideremia was based on the products of 30 years of scientific research (somein Canada, including mapping the gene in 1987). It simply could not have occurred without solid pre-clinical research, a team of informed and talented researchers, and significant infrastructure and research support from national (CFI, CIHR, FFB Canada, Choroideremia Research Foundation, Canada Inc.) and provincial (AIHS) funding agencies.

Fruit flies model how human traits are passed on

Trudy Mackay is a distinguished scientist specializing in quantitative genetics. Her research relies on the fruit fly an insect that has provided scientists the means for biomedical research and discovery for over 100 years. Mackays work has allowed researchers across the world to understand the genetic traits crucial to plant, animal and human health. A fellow of the Royal Society and the National Academy of Sciences, Mackay was awarded the 2016 Wolf Prize Laureate for Agriculture, widely considered one of the most prestigious prizes in science. She is now at North Carolina State University. Mackay will speak on The Genetic Architecture of Complex Traits: Lessons From Drosophila. We also spoke to her briefly about her research.

Q:Is fruit fly DNA much different from ours?

A:The fruit fly genome is about 10 times smaller than the human genome. However, and perhaps surprisingly, about two-thirds of fly genes have a human counterpart, and 70 per cent of human disease genes have a fruit fly counterpart. Thus, flies are a good genetic model for quantitative traits, including diseases, in humans.

Q:The first human genome was sequenced in 2003. How much more complex are human genes than originally thought?

A:The first human genome sequence was surprising in that many fewer genes were present than experts had predicted. We now know that regulatory component of the human genome is at least as important as the protein coding genes, and deciphering the regulatory code is an active area of research.

Q:How important is precision medicine to our future and health care of children?

A:Precision medicine is "an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person." Precision medicine has the promise to revolutionize future heath care by using genetic and genomic data to optimize individual disease risk assessment and therapy.

UCalgary and ACHRI researchers to present at symposium

The symposium will also hear from University of Calgary and ACHRI researchers:

Information on registration to attend the Alberta Childrens Hospital Research Institute Symposium on Precision Medicine in Child Health and details on the program agenda are available on the ACHRI website.

The Alberta Childrens Hospital Research Institute (ACHRI) symposium is an annual event supported by generous community donations through the Alberta Childrens Hospital Foundation. The research day highlights leading child health research from pre-conception to early adulthood. The day consists of presentations from external and internal speakers and a poster competition, TED Talks and presentations from ACHRI trainees. The symposium concludes with presentation and poster awards from ACHRI Director Dr. Brent Scott.

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World-renowned scientists to speak at Precision Medicine in Child Health research day - UCalgary News

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