Intellectual disabilities are no longer necessarily an unchangeable fate. Today, new tools allow us to diagnose and treat specific genetic conditions that cause developmental delay and intellectual disability, previously thought to be permanent. Individual with intellectual disabilities often develop epilepsy and autism—much of which can now be prevented through life-changing treatments.

Dr. van Karnebeek and her team already successfully identified a number of these defects, developed new treatments and were able to enhance identification of these diseases in BC Children’s Hospital. Over the past 2 years, 400 children with intellectual disability were systematically screened and 5% were identified to have treatable condition; treatment in these cases improved behavior, cognition and often changed the lives of the whole family.  These diagnostic tools – a protocol supported by the Treatable-ID.org App – are now used by physicians around the world, allowing them to recognize diseases in newborns and treat these vulnerable patients before they suffer critical brain damage.

The research of Dr. van Karnebeek, Assistant Professor in the Department of Pediatrics and scientist in the Centre for Molecular Medicine and Therapeutics (CMMT) at UBC, aims to discover new inborn errors of metabolism, a class of genetic diseases that is particularly amenable to treatment. Her team uses a multidisciplinary approach involving the study of three “-omics” in patients: phenomics, their physical and biochemical properties, genomics, their genetic information, and metabolomics, their metabolite profiles. The Treatable Intellectual Disability Endeavor (TIDE) is a large collaborative effort Dr. van Karnebeek established alongside Sylvia Stockler. Its goal is to harness new technologies for the discovery of genetic defects in children who appear to have intellectual disabilities and to provide clinicians with the tools for early recognition and management.

Speaker Bio
Dr. van Karnebeek is a Certified Pediatrician and Biochemical Geneticist at the BC Children’s Hospital (BCCH). She is currently serving as Clinical Assistant Professor in the Department of Pediatrics, at the University of British Columbia, Vancouver. Over the last decade since obtaining her PhD in the genetics of intellectual disability, Dr. van Karnebeek has been actively bridging her clinical work with passion for medical research.

Some of Dr. van Karnebeek’s most significant contributions pertain to innovation of diagnosis and treatment of inborn errors metabolism in intellectual disability patients, and translation into improved outcomes via prevention of brain damage and optimization of neurologic symptoms. Her research has led to the creation and design of the WebAPP www.Treatable-ID.org for handheld devices, which translates the knowledgebase she compiled for a systematic review into a clinical tool which facilitates the diagnosis and treatment of 81 treatable inborn errors of metabolism. As a Co-Principal Investigator with Dr. Sylvia Stockler, Head of the Biochemical Division at BCCH on the Treatable Intellectual Disability Endeavour (TIDE) project, a BCCH Collaborative Area of Innovation Grant, Dr. van Karnebeek successfully led the implementation of the TIDE diagnostic protocol at BCCH. The study identified treatable inborn errors of metabolism in 5% of all intellectual disability patients, and showed reduced time to diagnosis and cost-savings. Working with leading applied genomics and metabolomics researcher, Dr. van Karnebeek’s team is discovering novel gene defects causing intellectual disability which are amenable to treatment, with 5 novel genes thus far identified. This Omics2TreatIOD team, with Dr. van Karnebeek seving as PI, was recently awarded Genome BC and CIHR funding to expand their work with affected families around the globe, and generate knowledge on underlying disease mechanisms and targets for treatments. More can be read about the projects in the cover story of the Summer 2013 Edition of the BC Children’s Hospital Foundation’s Speaking of Children.

Dr. van Karnebeek is the recipient of Laura McRae Award for Excellence in Pediatrics from the University of BC/BC College of Physicians and Surgeons, Pediatrics, the 2012 Digital Health Innovation Summit award for her work on www.Treatable-ID.org WebApp, and Most Outstanding Autism Research Distinction from the Dutch Scientific Journal for Autism. She was recently selected as a finalist for the 2013 CIHR’s IG Maud Menten New Principal Investigator Prize, Clinical Theme. Dr. van Karnebeek is actively involved in philanthropic activities as a founder, researcher, and supporter of several nonprofit organizations including Tour de TIDE and Foundation Tweega Medica in East Africa.

UBC Library Resources

van Karnebeek, C. D., Houben, R. F., Lafek, M., Giannasi, W., & Stockler, S. (2012). The treatable intellectual disability APP w ww. treatable-id. org: A digital tool to enhance diagnosis & care for rare diseases. [Link]

Van Karnebeek, C. D., Jansweijer, M. C., Leenders, A. G., Offringa, M., & Hennekam, R. C. (2005). Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. European journal of human genetics13(1), 6-25. [Link]

Merks, J. H., van Karnebeek, C. D., Caron, H. N., & Hennekam, R. (2003). Phenotypic abnormalities: terminology and classification. American Journal of Medical Genetics Part A123(3), 211-230. [Link]


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LAW LIBRARY reference room (level 2): KE1229 .M38 2014
Mitchell McInnes, The Canadian Law of Unjust Enrichment and Restitution (Markham: LexisNexis Canada, 2014).

LAW LIBRARY level 3: KE1450 .M25 2014
A. Paul Mahaffy, The Private Company: A Legal and Business Guide for Owners and Managers, 2d ed. (Toronto: Carswell, 2014).

LAW LIBRARY level 3: KE2919 .P47 2014
Stephen J. Perry & T. Andrew Currier, Canadian Patent Law (Markham: LexisNexis, 2014).

LAW LIBRARY level 3: KE8248.C43 S96 2014
Graham Mayeda & Peter C. Oliver, eds., Principles and Pragmatism: Essays in Honour of Louise Charron / Principes et Pragmatisme: Essais en L’honneur de Louise Charron (Markham: LexisNexis, 2014).

LAW LIBRARY level 3: KES535.4 A33 2013
Neva R. McKeague, The Queen’s Bench Rules of Saskatchewan: Annotated, 4th ed. (Regina: Law Society of Saskatchewan Libraries, 2013).

The Library’s Tech Training program helps international students get IT-savvy.

 

This story appears in UBC Library’s 2013/14 Community Report. Read more to find out how we’re supporting economic, environmental and social sustainability at UBC.

 

You’ve spent most of your life in a refugee camp halfway around the world. You’ve also just been accepted to start at UBC next September.

Now what?

The international student experience often begins with digital instructions on an array of topics: tuition, registration, email accounts, course accessibility and more. Students are also typically assumed to have basic tech competencies for the 21st-century classroom – but that isn’t always the case.

“With students from 151 countries, it’s important to be mindful of context in that students coming from different places may be coming from varying degrees of experience and access to technologies,” says Michelle Suderman, Associate Director, UBC International Student Development.

Enter UBC Library as an intercultural bridge. For the last two years, the Library’s Chapman Learning Commons (CLC) has provided a customized Tech Training program to UBC students from the World University Service of Canada Student Refugee Program (WUSC-SRP). The program is delivered by a CLC student assistant and Julie Mitchell, the CLC Managing Librarian.

International students are offered an overview of technology basics – including email platforms, understanding the differences Macs and PCs, course management programs (such as Connect), scanning and printing, and software programs available at UBC Library. The program accelerates technology fluency and inspires confidence, thanks to new-found skills that can be applied immediately in course assignments and research.

“Growing up in a refugee camp in Kenya limited my ability to access technology,” acknowledges Rhoda Philip, an undergraduate science student who took the program last year upon arriving in Vancouver. “Everything is about technology here.” After a couple of weeks of training, Philip felt more at ease, thanks to the program and the peer-to-peer learning experience that it fosters.

Cameron Frayne, a CLC student assistant who co-developed the Tech Training program, said several students are requesting more advanced program services – which could include instructions for tech tools and programs such as Adobe Illustrator, HTML and data visualization.

The program also fosters a spirit of community – some students participate in Tech Training development, while others promote the program to the next crop of WUSC-SRP students. The program will begin its third year in fall 2014.

Q_international 

Anne Lama, UBC Library’s Conservator (left) and Chelsea Shriver, Student Librarian, prepare for a book exhibition at Rare Books and Special Collections.
Credit: Martin Dee

 

Anne Lama may be a Conservator at UBC Library – but you could also call her the book doctor. “We have the same goal,” says Lama, comparing herself to a physician. “Preserve our patients from disease, and limit medication and surgery, if it is possible.”

Since arriving at UBC in 2013 after a decade-long stint at the National Archives in France, Lama has been developing a comprehensive preservation and conservation strategy to safeguard the Library’s vast physical collections. That’s no small task, given the challenges of working with finite materials. Paper and cardboard, after all, degrade. Leather covers dry out. Aging newsprint turns yellow and eventually disintegrates.

In response, Lama has been busy training staff across the Library system in preservation and mending techniques. She’s also worked with Rare Books and Special Collections and University Archives to ensure a high level of collections care, and planned a range of public and staff-related activities to celebrate Preservation Week, an annual spring event. A top priority moving forward is the establishment of a conservation lab in Woodward Library.

“Anne’s contributions are already making a huge difference in terms of staff training, programs and the development of facilities for conservation,” says Alvan Bregman, Head of Technical Services.

The need to preserve collections for generations of scholars, researchers, students and lifelong learners also extends to the digital realm (indeed, managing collections in a digital context is one of the Library’s key directions in its strategic plan). Dizzying changes in formats and software can make it difficult to keep electronic assets – ranging from e-books to archival items – from disappearing into the digital ether.

In response, UBC Library began formulating its digital preservation strategy in 2011. Since then, it has worked with Artefactual Systems, a Metro Vancouver company, on an open source digital preservation system to help ensure that University publications, databases, theses, data sets and other types of digital collections endure.

The Library is also involved in other initiatives, including a collaborative project with Simon Fraser University and the University of Alberta that could lead to a Western Canadian preservation “backbone” and, ultimately, a national digital preservation network.

 

Join the conversation: The Library also depends on its users to help care for its collections. What steps can you take to ensure that Library materials are maintained for generations to come?

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