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Research Prominence

Scholars receive prestigious national chairs

Three Queen’s researchers receive Canada Research Chairs from Government of Canada.

An internationally-renowned chemist who has reshaped the field, Cathleen Crudden (Chemistry) has been named the new Tier 1 Canada Research Chair in Metal Organic Chemistry.

Arriving at Queen’s in 2002 as a Queen’s National Scholar, Dr. Crudden’s research investigates the interaction of organic compounds with metals in the synthesis of novel materials and for the development of highly active catalysts. Her work has widespread applications in pharmaceuticals, manufacturing and agriculture – a testament to the depth and breadth of her research.

Dr. Cathleen Crudden (Chemistry) has been named the new Tier 1 Canada Research Chair in Metal Organic Chemistry. She is joined by Dr. Peter Davies (Biomedical and Molecular Sciences, Tier 1 Canada Research Chair in Protein Engineering) and Dr. Mohammad Zulkernine (Computing, Tier 2 Canada Research Chair in Software Reliability and Security) who saw their Canada Research Chairs renewed.

Dr. Crudden’s work in the field of organic chemistry has been lauded as revolutionary and has allowed for the synthesis of compounds previously thought impossible. In recent years, she has published nearly 100 papers in high-impact journals, and her research has been cited nearly 3,000 times. Committed to training the next generation of leading multidisciplinary researchers, she has also supervised 20 doctoral candidates, 19 master’s candidates and 31 postdoctoral fellows – many of whom have taken positions in research and industry.

“This grant will let me spend more time on research while still having the pleasure of teaching Queen’s undergraduates,” says Dr. Crudden. “Our research program has also become very international lately and this research chair will allow me to set aside time to visit collaborators in the U.S., Finland, Scotland, Japan and the rest of Canada.” 

Two other Queen’s researchers have seen their Canada Research Chairs renewed. Peter Davies (Biomedical and Molecular Sciences) has been renewed as the Tier 1 Canada Research Chair in Protein Engineering, while Mohammad Zulkernine (Computing) has been renewed as the Tier 2 Canada Research Chair in Software Reliability and Security.

“The CRC program allows Queen’s to attract top-calibre researchers, to provide them with the tools to succeed, and to make Canada an international leader in research and development,” says John Fisher, Interim Vice-Principal (Research).  “Queen’s researchers, including the three CRC recipients announced today, are at the forefront of their fields, conducting research that addresses some of the most challenging and complex problems in science, with potential to have a global impact.”

Dr. Davies’ research focuses on how a protein’s structure enables it to carry out its purpose and how the function of a protein can be changed by altering its structure. His research has numerous potential applications in healthcare and biotechnology.

“I am delighted to have the support of the Canada Research Chair program for another seven years,” Dr. Davies says. “This renewal is a vote of confidence for the research we have been doing in recent years, and it will allow my group to branch out into a new area. We have recently become involved in the study of adhesin proteins that bacteria use to form biofilms and infect various hosts. By studying and engineering these proteins we hope to interfere with their infectivity.”

As technology becomes a larger aspect of our day-to-day lives, security and reliability are of paramount concern. Dr. Zulkernine’s research is focused on addressing these issues at different stages of the development cycle, in order to better protect the next generation of mobile and cloud computing environments.

“This award actually belongs to my current and former graduate students and postdoctoral fellows who have worked hard with me to achieve my research goals,” says Dr. Zulkernine. “I am also thankful to my collaborators in the School of Computing, Queen's, and industry partners for their continuous support. This award will attract more high quality students and world renowned software security and reliability researchers to our Queen's Reliable Software Technology (QRST) research group.”

Queen’s will receive $200,000 per year over seven years for each Tier 1 Chair and $100,000 per year over five years for each Tier 2 Chair.

The Canada Research Chairs (CRC) program is at the centre of a national strategy to make Canada one of the world’s top countries in research and development since 2000. The CRC program invests approximately $265 million per year to attract and retain some of the world’s most accomplished and promising minds. Canadian universities both nominate Canada Research Chairs and administer their funds.

For more information on the Canada Research Chairs program, please visit the website.

Queen’s researchers lead the way in numerous fields, with notable advances made recently in particle astrophysics, cancer research, ecological history and environmental change, and clean energy technology. Through leading-edge research, Queen’s is addressing many of the world’s greatest challenges, and developing innovative ideas and technological advances brought about by discoveries in a variety of disciplines. Queen’s University is a member of the U15 Group of Canadian Research Universities.

The heart of the matter

Queen’s researcher Amer Johri brings unique technology to Science Rendezvous.

A main focus of Science Rendezvous has always been the hands-on experience – being able to touch, experience and do.

This year’s Heart and Stroke booth promises visitors a unique experience thanks to Amer Johri and his ultrasound machine.

Using volunteer student models, Dr. Johri, a Queen’s University professor,  cardiologist and ultrasound specialist, will be scanning and explaining the different parts of the human heart.

“I really want to explain how the human heart works and how to keep it healthy,” says Dr. Johri, a clinician scientist in the Kingston General Hospital Research Institute. “What better way than to use a real person and a real heart? It will also give kids an opportunity to learn more about ultrasound so they aren’t scared of the technology. We are really just taking a photograph of your heart.”

Each year, Queen’s partners with the Heart and Stroke Foundation to engage the public in an event promoting heart health. A number of Queen’s researchers, including Dr. Johri, receive funding from the Heart and Stroke Foundation.

Last year, after attending the event last year with his son, he wanted to participate in providing other children exposure to science.  He and his lab are all volunteering in 2017.

 “The Heart and Stroke Foundation provides critical funding,” says Dr. Johri, “and Science Rendezvous provides a unique opportunity to explain our research in a public forum. It’s also a team bonding experience for everyone that works in our lab – we have a group of interesting and dynamic researchers that are doing amazing work.”

Dr. Johri is the director of the Cardiovascular Imaging Network at Queen’s (CINQ). The goal of the network is to position CINQ as the central node in a global network, working to translate novel cardiovascular imaging and treatment technologies into clinical practice. Some of Dr. Johri’s main research focuses are 3D echocardiography and early stage heart disease detection.

The 10th annual Science Rendezvous Kingston 2017 runs Saturday, May 13 from 10 am to 3 pm at the Rogers K-ROCK Centre. Admission is free.

A whirlwind tour of Washington D.C.

Art McDonald inducted into National Academy, gives speech at Canadian Embassy.

It was another full week for Queen’s professor emeritus and Nobel Laureate Art McDonald, as he visited Washington DC for the annual meeting of the National Academy of Sciences (NAS) and delivered a presentation on the Sudbury Neutrino Observatory (SNO) experiment at the Canadian Embassy.

Dr. McDonald signs the Book of Membership at the National Academy of Sciences annual meeting on April 29. (Photo Credit: National Academy of Sciences).

On Saturday, April 29, Dr. McDonald was formally inducted as a foreign associate of the National Academy of Sciences at the Academy’s 154th annual meeting. Dr. McDonald was one of 20 fellow researchers from 14 countries to receive the honour. Of the 490 foreign associates, Dr. McDonald is one of only 20 living Canadian researchers with membership in the Academy – a group that includes Queen’s professor emeritus Raymond A. Price (Geological Sciences and Geological Engineering).

 “Having conducted my graduate work at Caltech, served as a professor at Princeton and collaborated extensively with U.S. scientists throughout my research career, I am honoured to have been elected to The National Academy of Sciences.” says Dr. McDonald. “At this important time in the dialogue on the importance of scientific research, I am proud to be granted membership in this highly respected group.”

Established under a congressional charter signed by President Abraham Lincoln in 1863, the National Academy of Science recognizes achievement in science and provides science, technology, and health policy advice to the US federal government and other organizations. Election to the Academy is widely considered one of the greatest achievements in science, and approximately 200 of its members have received Nobel prizes.

“Induction into the National Academy is amongst the highest honours that one can receive, and is a testament to the significance of Dr. McDonald’s research,” says Queen’s Principal Daniel Woolf. “This award is further recognition of the groundbreaking research conducted at the Sudbury Neutrino Observatory by Dr. McDonald and his collaborators. On behalf of the entire university community, I would like to extend him my most sincere congratulations.”

From L-R: Nigel Smith, SNOLAB Director, Dr. Art McDonald, Science Minister Kirsty Duncan, Denis Stevens, Deputy Ambassador, John Fisher, Vice-Principal(Research).

Following the NAS annual meeting, on May 2, Dr. McDonald visited the Canadian Embassy in Washington. The theme of the evening focused on international research collaboration, particularly the US-Canada collaboration on the SNO experiment and at the SNOLAB underground laboratory. Dr. McDonald, along with Dr. John Fisher (Vice-Principal, Research) and Nigel Smith (SNOLAB) gave presentations on the past, present and future of international collaborations at SNOLAB and the value of international collaboration in leading-edge research. Science Minister Kirsty Duncan was also on hand to reiterate the government’s commitment to international collaboration in science.

Queen’s researchers and students are collaborating with colleagues around the world on innovative research projects that have the potential to bring about a wide variety of societal benefits. The university is committed to increasing global engagement by developing new international research collaborations and building sustained multinational partnerships. These activities foster an environment where resources and expertise can be shared and knowledge can be mobilized and translated.

Feeling the power

Queen’s professor Praveen Jain receives the IEEE Canada Phoivos Ziogas Electric Power Medal.

One of Canada’s leading power electronics expert has been recognized by his peers for his pioneering work in the field.

On May 1, Queen’s electrical engineering professor Praveen Jain received the Phoivos Ziogas Electric Power Medal from the Canadian arm of the Institute of Electrical and Electronics Engineers (IEEE Canada). The award recognizes outstanding Canadian engineers who have made important contributions to the field of electric power engineering.

Praveen Jain (Electrical Engineering) received the IEEE Canada Phoivos Ziogas Electric Power Medal in recognition of his numerous achievements as a pioneer in the field of power electronics.

“This is one of the top awards in power engineering in Canada, so it is a tremendous honour to be selected to receive the P. Ziogas Electric Power Medal,” says Dr. Jain. “I was very excited and humbled to receive the news.”

For over 30 years, Dr. Jain has been conducting leading-edge research that has opened up new possibilities in solar power generation. His research has resulted in over 550 publications, 107 patents and numerous spin-off companies which have translated his research into real-world applications. Along with his colleagues and graduate students at the Queen’s Centre for Energy and Power Electronics Research (ePOWER), Dr. Jain is working to develop new energy efficient, cost effective and environmentally friendly power electronic technologies to meet society’s ever-increasing energy demands.

Dr. Jain’s research has received substantial investments from government and industry alike, including a recently announced $4 million grant from the Ontario Research Fund - Research Excellence to advance the development of more efficient, small-scale, point-of-use photovolataic (solar) power systems for residential use. He explains this funding will go towards new, more efficient power systems that can meet growing demand for renewable energy.

“This will help reduce the burden on the existing power grid in the short term and, in time, allow us to replace large-scale electrical generation infrastructure with point-of-use systems,” he adds. “Renewable energy systems can help reduce our environmental impact and meet our growing energy needs. There is a worldwide effort to meet 50 per cent of our energy needs by solar power by the end of the century, and our research will play an important role in making that happen.”

Established in 2007, the IEEE Canada P. Ziogas Electric Power Medal is awarded to outstanding Canadian engineers recognized for their important contributions to the field of electric power engineering.

For more information on IEEE Canada or the P. Ziogas Electric Power Medal, please visit the website.

From breaking ground to a groundbreaking building

As he provides an update on the Innovation and Wellness Centre, John Witjes can’t help but get excited about the finished product. 

“Seeing a state-of-the-art facility rise from a building built in the 1930s and the 1970s will be really impressive,” says the associate vice-principal (facilities). “Connecting the old and the new is something that Queen’s does well – just look at Goodes Hall and the Isabel – and the Innovation and Wellness Centre is going to be another great example of that.”

[Foundation rising at IWC]
After the demolition work, crews started forming and pouring columns, foundation, and shear walls for the new Innovation and Wellness Centre. (Submitted photo) 

Construction work began on the project in September 2016, thanks to investments from Queen’s, the federal and provincial governments, and numerous benefactors. When students return to campus in September 2018, they will have full access to expanded research and innovation spaces, a wellness centre, athletics and recreation facilities, the Queen’s University International Centre, and a new Exam Centre.

Within the next couple of weeks, the Queen’s community will notice a shift in the project. Demolition is nearly complete, and the new structure will start to rise out of the ground. Crews have poured footings and foundations and the structural steel will arrive on the construction site next week.

“It will be very exciting to watch this incredible building truly start to take shape,” says Benoit-Antoine Bacon, Provost and Vice-Principal (Academic). “The steel structure will soon rise into view, and soon after we will start to fit in the state of the art research, innovation and student wellness spaces that make this project so important for the future of Queen’s.”

Mr. Witjes says crews have managed to stay on schedule while overcoming certain challenges that arise from retrofitting an existing building instead of constructing something brand new. 

“You will always find unexpected things that you have to react to or design around,” Mr. Witjes says. “It’s particularly challenging with this project because there are essentially two buildings: the 1930s building and the 1970s addition.”

The project team is also taking great care to preserve the heritage components of the original structure. The limestone façade facing Union Street will remain, and Queen’s will reinstate the original windows.

[Front facade of IWC]
The new Innovation and Wellness Centre will include the original limestone façade. Queen’s will also reinstate the original windows. (Submitted photo)

While the heritage aspects on the outside will remain, the inside will have a completely new look and feel. From Union Street, visitors will enter into an expansive space with skylights and glass on all sides. The Bews Gymnasium that used to be at the front of the building will be relocated underneath the Ross Gym.

“Whereas the old building was very compartmentalized and disconnected, the new building will be much more open. We are introducing intersecting spaces where people will come into contact with each other as they travel from one area of the building to the other,” Mr. Witjes says.

The building will be enclosed by the end of the fall, with crews continuing to work inside through the winter. Mr. Witjes says he appreciates the Queen’s community’s co-operation and understanding as the university constructs a major capital project in the heart of campus.

“We realize it is disruptive, but I think the facility is going to be amazing and people are going to be impressed by the end result,” he says. “With so many key components of the Queen’s student learning experience coming together in this space, it’s nice to see this happening to a building that is in the centre of campus. It’s going to be really exciting.”

Follow the construction live on this webcam

[Innovation and Wellness Centre]
An architectural rendering of the Innovation and Wellness Centre, showing the blend of the old building and the new structure. The centre will include expanded research and innovation spaces, a wellness centre, athletics and recreation facilities, the Queen’s University International Centre, and a new Exam Centre.


Highlighting international collaboration

Dr. Art McDonald presents on SNO research, Canada-US collaboration at the Canadian Embassy in Washington D.C..

  • Dr. McDonald meets with David MacNaughton, Canada's Ambassador to the United States. (Photo Credit: Embassy of Canada)
    Dr. McDonald meets with David MacNaughton, Canada's Ambassador to the United States. (Photo Credit: Embassy of Canada)
  • Dr. McDonald discusses the importance of the Canada-US relationship and international scientific collaboration. (Photo Credit: Embassy of Canada)
    Dr. McDonald discusses the importance of the Canada-US relationship and international scientific collaboration. (Photo Credit: Embassy of Canada)
  • Dr. McDonald delivers his presentation on the SNO collaboration and the role of international collaboration in bringing the project to fruition. (Photo Credit: Embassy of Canada)
    Dr. McDonald delivers his presentation on the SNO collaboration and the role of international collaboration in bringing the project to fruition. (Photo Credit: Embassy of Canada)
  • Dr. McDonald and John Fisher (Interim Vice-Principal, Research) meet with Science Minister Kirsty Duncan and members of the Standing Committee on Industry, Science and Technology.
    Dr. McDonald and John Fisher (Interim Vice-Principal, Research) meet with Science Minister Kirsty Duncan and members of the Standing Committee on Industry, Science and Technology.

On Tuesday, May 2, Queen's professor emeritus Art McDonald (Physics, Engineering Physics and Astronomy) visited the Canadian Embassy in Washington D.C.. The theme of the evening focused on international research collaboration, particularly the US-Canada collaboration on the SNO experiment and at the SNOLAB underground laboratory.

Dr. McDonald, along with Dr. John Fisher (Vice-Principal, Research) and Nigel Smith (SNOLAB) gave presentations on the past, present and future of international collaborations at SNOLAB and the value of international collaboration in leading-edge research. Also in attendance was Science Minister Kirsty Duncan, who reiterated the government’s commitment to international collaboration in science, and discussed the recently-completed Science Review.

Dr. McDonald was in Washington to attend the 154th annual National Academy of Sciences annual meeting, where he was formally inducted as a foreign associate of the Academy.

Unique technology

Queen’s University professor recognized for innovation in medical education.

Sanjay Sharma, a professor of ophthalmology and epidemiology at Queen’s University, has received the John Ruedy Award for Innovation in Medical Education from the Association of Faculties of Medicine of Canada.

Dr. Sharma was recognized for spearheading the development of MEDSKL, a free, open-access platform for medical students that uses video to deliver clinical education from leading physicians around the world. MEDSKL was designed for medical school students and practicing physicians to learn and review the fundamentals of clinical medicine.

“Being a doctor requires the ability to apply knowledge and theory in often unpredictable circumstances. Yet today’s medical students still receive their core education primarily through textbooks and lecture halls. Students need earlier access to clinical knowledge and case studies that bring the fundamental aspects of practicing medicine to life,” says Dr. Sharma.

The John Ruedy Award, named after the former Dean of Medicine at Dalhousie University in Halifax, Nova Scotia, recognizes physicians who have developed innovative digital or materials that support undergraduate, postgraduate, or continuing medical education.

“Queen’s University and the School of Medicine are proud to recognize Dr. Sharma for the work he’s done in innovating medical education,” says Dean Richard Reznick. “His contributions will provide students with yet another opportunity to enhance their medical training.”

When starting his medical career, Dr. Sharma says he chose Queen’s for his residency due to the amount of surgery performed, which fit his interests perfectly. He arrived at Queen’s in 1991 and has continued to work to change the care and treatment of patients with eye conditions ever since.

“In 2007 eye injections using new medicines were proven to have remarkable benefits in patients with wet macular degeneration, diabetic eye disease and other retinal conditions,” says Dr. Sharma. “To achieve these benefits, frequent eye injections called intravitreal injections are often required. Through our work at Hotel Dieu Hospital we realized that one of the barriers to quality health care was easy access to a clinic where these procedures are provided.”

To address these location issues, Dr. Sharma opened his first part-time intravitreal clinic in Belleville in 2011. After positive feedback, he opened a number of new clinics in Brockville, Smiths Falls and Port Hope. He always does the first assessment of patients at his Hotel Dieu clinic but is now able to provide injections at four different sites.

“In the clinics we feature some of the best young medical minds in the country, including medical students, residents and fellows,” says Dr. Sharma.

It’s this interest in students and their education that led Dr. Sharma to present a new way for medical students to learn. He created the open access website Medskl.com, which features more than 100 TED talk-style on dozens of clinical topics, from general surgery to public health and the legal and ethical aspects of medicine. Each learning module includes a two-minute whiteboard presentation, a 15-minute lecture and a 1,000 word written document.

The award will be presented at the end of April at the 2017 Canadian Conference on Medical Education, in Winnipeg, Manitoba.

Queen’s distinguishes itself as one of the leading research-intensive institutions in Canada. The mission is to advance research excellence, leadership and innovation, as well as enhance Queen’s impact at a national and international level. Through undertaking leading-edge research, Queen’s is addressing many of the world’s greatest challenges, and developing innovative ideas and technological advances brought about by discoveries in a variety of disciplines. Queen’s University is a member of the U15 Group of Canadian Research Universities.

Examining the mind

Queen’s researchers Doug Munoz, DJ Cook, Ron Levy, and Steve Scott (Centre for Neuroscience Studies) have received a three-year, $857,062 grant from Brain Canada’s Multi-Investigator Research Initiative with financial support from Health Canada through the Canada Brain Research Fund. The project will study how Alzheimer ’s disease affects the brain and to devise new therapeutic strategies for slowing the progression of the disease.

(From L-R) Drs. DJ Cook, Doug Munoz and Ron Levy, (as well as Dr. Steve Scott, not pictured) have received a three-year grant from Brain Canada to examine new therapeutic strategies for Alzheimer's disease.

“This project stems from collaboration between our team and Dr. Fernanda De Felice, a leader in the study of Alzheimer’s disease from Rio de Janerio,” explains Dr. Munoz. “Her team has developed a way to create what looks like Alzheimer’s-like pathology in tissue cultures. Our project represents the evolution of this research and brings with it exciting new opportunities for Alzheimer’s research - including the potential for us to test therapeutics that may improve quality of life for patients and slow the progression of the disease.”

The team will use amyloid-beta oligomers – amino acid peptides that are a main component of the plaques found in the brains of Alzheimer’s patients – to mimic several attributes of the disease and its progression. Their study will also explore using trophic – growth-promoting – molecules and electrical stimulation to promote regrowth and plasticity of affected cells.

“The study proposed by Dr. Munoz and his colleagues at the Centre for Neuroscience Studies has the potential to lead to tremendous breakthroughs in the treatment of Alzheimer’s,” says Dr. John Fisher, Interim Vice-Principal (Research) at Queen’s University. “As the population demographics continue to shift and the prevalence of Alzheimer’s and other forms of dementia increases, projects such as this will help us better understand and manage this disease. Queen’s is proud to support field-leading health research, such as this Brain Canada-funded project.”

An estimated quarter of a million Canadians have a diagnosis of dementia – a group of disorders affecting brain function, of which Alzheimer’s is the most common form. The disease leads to a decline in memory, communication, reasoning and emotional control, and has a tremendous impact on patients, families and the health care system as a whole. Dr. Munoz says he is hopeful that the project will lead to the development of new treatments that can alleviate the devastating effects of Alzheimer’s and improve quality of life for patients with the disease.

“If you have an older patient with a brain that is no longer working the way it used to, you won’t be able to reverse it back to the time when that brain was young and healthy,” explains Dr. Munoz. “What we aim to do, on the other hand, is to develop treatments that could allow the brain to work around the disease – alleviating some of the devastating effects of Alzheimer’s for the patient.”

The Brain Canada Multi-Investigator Research Initiative grant supports research that will “fundamentally change our understanding of nervous system function and dysfunction and its impact on health.” The grant aims to encourage and support research that will reduce the social and economic burden of neurological and mental health problems by developing means to prevent disease, diagnose disease earlier or to improve treatment.

The Centre for Neuroscience Studies at Queen’s is a  leading hub for research and scholarship in all facets of neuroscience.The Centre’s mission includes furthering the understanding of brain organization and function, as well as enhancing societal neurological and mental health, with emphasis upon improving the quality of life for those affected by neurological and psychiatric diseases.

Fostering connections at Royal Society of Canada seminar

[RSC Eastern Ontario]
Three Queen's researchers – Elizabeth Eisenhauer, Ugo Piomelli, and Una Roman D’Elia – will be making presentations at the Eastern Ontario Regional Seminar of the Royal Society of Canada on Saturday, April 22.

Four members of the Royal Society of Canada will be presenting their ongoing research at an upcoming event being hosted by Queen’s University on Saturday, April 22.

Four researchers – three from Queen’s and one from Carleton University– will provide insights into their work at the Eastern Ontario Regional Seminar of the Royal Society of Canada, set for the University Club from 10 am-4 pm.

The schedule of presentation includes:
10 am: Ugo Piomelli, FRSC, Department of Mechanical and Materials Engineering – Queen’s University “Turbulence simulations: unravelling disorder, one vortex at a time”
11 am: Una Roman D’Elia, College of New Scholars, Artists and Scientists, Department of Art History and Art Conservation – Queen’s “Donatello and Pygmalion”
2 pm: Elizabeth Eisenhauer FRSC, Department of Oncology – Queen’s “Moving from the lab to the clinic – 30 years of progress in cancer treatment”
3 pm: Donald Beecher, FRSC, Department of English - Carleton “Boccaccio's ‘Tale of Titus and Gisippius’ (Decameron X.8) with a Coda on Friendship from a Cognitive Perspective

Along with presenting the research by Fellows and Members of the New College of Young Scholars Artists and Scientists one of the goals of the seminar is to foster discussion and connections, explains Pierre du Prey, Professor Emeritus in the Department of Art History and co-chair with Mike Sayer, Professor Emeritus in the Department of Physics, Engineering Physics and Astronomy.

“Participants, including our four speakers each year, make fruitful contacts among each other and the audience; contacts which stretch between the four universities represented and which cross disciplinary lines,” says Dr. du Prey. “Overarching themes emerge as if by magic from the diverse papers presented and the discussion that follows them. In this way arts and science become reunited by the common quest for knowledge.”

After 12 years at the helm, Dr. du Prey and Dr. Sayer are handing over direction of the forum, confident that it is set on a stable course, and bound for exciting new destinations. Hosted by Queen’s and actively encouraged by the RSC, it gives New Scholars and Fellows of the Society, as well as members of the general public, a chance to benefit from discourse at the highest level. The presentations are open and free to the public.

RSVP by April 19 at sayerm@queensu.ca, or 613-531-4853. 

A link to disability

Study finds new genes linked to intellectual disability.

A new study jointly led by Queen’s University’s Professor Muhammad Ayub and Professor John Vincent from the Centre for Addiction and Mental Health (CAMH) and has identified 26 new genes linked to intellectual disability. Currently the majority of intellectual disability patients receive no molecular diagnosis, which significantly affects their health and shortens their lifespan.

The study has implications for the diagnosis and clinical care of those affected, and also adds to the growing knowledge of brain development. It also may eventually lead to personalized treatments for affected individuals. Several of the genes identified are also thought to be connected with autism spectrum disorders.

 “Developments in technology and our strategic advantage of access to families from consanguineous populations made this big study possible,” says Dr. Ayub, who also works with the Development Disabilities Consulting Program at Queen’s University. “It is a significant step in the long journey to discoveries that could change our treatment for intellectual disabilities.”

The study involved 192 families from Pakistan and Iran with more than one family member who had an intellectual disability. About one in 100 children worldwide are affected by intellectual disability, which is characterized by significant limitations in learning that also affect daily functioning. Intellectual disability also frequently accompanies symptoms of autism spectrum disorders, and many genes have been found to be shared by the two illnesses.

Intellectual disability is frequently caused by recessive genes, meaning that an affected child gets a defective copy of the gene from each parent. The families in the study all had a history of marriage among relatives, which occurs quite commonly in communities in South Asia, the Middle East and Africa. This background increases the likelihood that recessive illnesses may occur. Families with such a background and with multiple affected individuals can enable researchers to identify disease genes that would otherwise remain hidden.

Drs Vincent and Ayub along with the Canadian research team pinpointed mutations in 72 different genes related to intellectual disability in half of these 192 families. The identification of 26 new genes adds to 11 genes that the team has previously linked to intellectual disability among these families.

“For the participating families’ future cases of intellectual disability can be prevented by genetic screening of unaffected family members and relatives and focused advice on the risks of ‘within family’ marriages. For cultural reasons this would need to be done with great degree of sensitivity,” says Dr Ayub.

A broader goal in identifying genetic mutations is to develop diagnostic screening tools that are also relevant to populations in which ‘within family’ marriages are rare, such as Canada, United, Japan, China, and Europe. These screens would allow physicians to identify what exactly, at the molecular level, is leading to the condition and symptoms, and to use this information to plan more personalized treatment.

“The genes we have identified will be further studied for their role in development of brain and how their derangement leads to intellectual disability and other brain disorders,” says Dr. Ayub.

The study was published in Molecular Psychiatry.


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