GARROD NEWS
Volume 2 Issue 1
Winter 2014
From the President (and the Editor)
Dear Friends,
Greetings!
Happy 2014! The Garrod team wishes you a very happy
new year. The Garrod and the Newborn screening team
(Ontario) have joined forces. There will be a combined
Garrod and Newborn Screening meeting on the May 29th31st of 2014 in Ottawa. There will be satellite meetings
organized by Shire and Can PKU. The details are provided
in the newsletter as well as on the Garrod and Newborn
screening websites. www.garrod.ca and www.cncssymposium.com
It is much more important to
know what sort of a patient has
a disease than what sort of a
disease a patient has.
Sir William Osler
(Jul 12th 1849 - Dec 29th 1919)
We hope to see you, your colleagues and students there! Dr. Aldirbashi and team are
working very hard and have a great program for this meeting..
We need to better understand the biochemical pathways and human beings in order to be successful biochemical geneticists. We are
truly fortunate to have academic leaders who fulfill both these qualities such as Dr. Joe Clarke and Dr. Bruce Gordon. During the last
Garrod meeting Dr. Clarke’s academic achievements and his role as a pioneer were acknowledged. You will find a summary in our
newsletter. Dr. Bruce Gordon is another one of those quiet pioneers who has shown that hard work and persistence is the key to
success. His work on hyperornithinemia, hyperammonemia, homocitrullinuria syndrome has been a very important one. He remains
active in the laboratory more than fifteen years after his actual retirement! (continued on pg 2)
In this Issue
From the President … 1
Garrod & Newborn Screening Meeting 2014 ... 2
Executive … 2
Beginnings … 3
New Canadian Research Initiatives … 5
Our Pioneers … 6
Newborn Screening … 9
In the News ... 9
Garrod Meeting (Sherbrooke) 2013 ... 10
Dietitian’s Corner ... 11
Support Groups ... 11
CanPKU ... 12
Future Conferences ... 13
Grants & Awards ... 13
1
Our Young “Stars” ... 13
Our Canadian centres are actively taking part in basic and clinical research. Gene therapy for Fabry disease is one such
project. These are exciting times but they are also challenging times. Clearly more work needs to be done to get our Garrod
community involved in the discussions about therapies that impact our patient families.
Thank you all for your comments and suggestions for the Garrod newsletter and the Garrod website. Please continue to
send your contributions. I am grateful to Janice Little (resource associate) for maintaining the Garrod website and her help
with the newsletter. Thanks Janice!
Happy Holidays!
Best wishes,
Chitra Prasad
A journey of a thousand miles begins with a single step
Lao-Tzu
Garrod & Newborn Screening
Meeting 2014
Executive
President
Dr. Chitra Prasad
This years Garrod meeting will be held on May 29th-31st
in Ottawa, Ontario. This meeting will be a joint venture
with Newborn Screening Ontario meeting.
[email protected]
Vice-President
Abstract Submission Deadline - 21 February, 2014
Abstract Decision Date - 21 March, 2014
Dr. Sylvia Stockler
[email protected]
Secretary / Treasurer
Dr. Pierre Allard
[email protected]
Garrod Website: www.garrod.ca
Ottawa, ON
CanPKU, CIMDRN and Shire are also holding satellite meetings.
Please visit the symposium’s website: www.cncssymposium.com for further details.
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Beginnings
Dr. Bruce Gordon, MD, PhD, FCCMG
Officially Bruce retired in 1997 but he has continued to be actively involved in the London Health
Sciences Centre Biochemical Genetics Laboratory. He truly enjoys the challenges of research
and test development and is currently contributing two days a week to the laboratory working
primarily at the bench.
Queen’s University, Kingston, awarded Bruce an MD (1957) and a PhD (1963). He was a
Medical Research Council (forerunner to the CIHR) Fellow and Scholar 1959 -1968 and a visiting
research fellow at the Karolinska Institute, Sweden 1963 -1964. Bruce remained at Queens as
an Assistant Professor, Biochemistry until 1965 when he moved to London Ontario to the
Children’s Psychiatric Research Institute – an Ontario Government facility for children with
severe developmental delay and behavioral problems. CPRI was affiliated with the University of
Western Ontario and Bruce progressed through the ranks and retired as a full professor in the
departments of Biochemistry and Pediatrics. In 1975, Bruce became the Director of the
Biochemical Genetics Laboratory at CPRI and remained in that position until his formal
retirement. He also continued to provide medical services to the in-patient population at CPRI.
In his early scientific career at Queen’s and the Karolinska, Bruce was interested in the isolation
and structural characterization of bile acids by gas chromatography and mass spectrometry with
mentors Prof Beveridge and Prof Sjovall. When he moved to London his interests focused on
inborn errors of metabolism but he retained his belief in the role of analytical methods to
understand the biochemical consequences of genetic diseases. Particularly notable are Bruce’s
contributions to some of the first descriptions of HHH syndrome, activator deficient MLD, B1 and
AB variants of TSD, cobalamin responsive MMA, and aspartylglucosaminuria.
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Bruce has persisted with his interests in genetic metabolic diseases. He is currently researching
novel diseases that have been identified by exome sequencing funded by FORGE. Bruce also
brings an encyclopedic knowledge and memory of both biochemical and clinical details. Many
members of the Garrod Association have interacted with Bruce over the years typically on the
diagnosis of particularly challenging patients.
Those who have worked closely with Bruce have appreciated his integrity, work ethic and
pleasant demeanor with a rather dry sense of humour. We have learned much from Bruce.
Thank you Bruce and we look forward to your ongoing support.
Submitted by Dr. Tony Rupar
References: Gordon BA, Gatfield DP, Haust MD. The hyperornithinemia, hyperammonemia,
homocitrullinuria syndrome: an ornithine transport defect remediable with ornithine supplements.
Clin Invest Med. 1987 Jul;10(4):329-36.
Rip JW, Coulter-Mackie MB, Rupar CA, Gordon BA.Biochem J. Purification and structure of
human liver aspartylglucosaminidase. 1992 Dec 15;288 ( Pt 3):1005-10.
Gordon BA, Rupar CA, Rip JW, Haust MD, Coulter-Mackie MB, Scott E, Hinton GG.
Aspartylglucosaminuria in a Canadian family. Clin Invest Med. 1998 Jun;21(3):114-23.
Members, students, visitors and future scientists of the London Health Sciences Centre Biochemical
Genetics laboratory (Previously known as CPRI lab). This photograph was taken about three years ago
and you might recognize Dr. Osama Aldirbashi, laboratory head, Newborn Screening Ontario on a
rotation in the lab. Dr. Rupar’s research focusses on metachromatic leukodystrophy, and genetic and
metabolic diseases in Amish and Mennonite populations.
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New Canadian Research Initiatives
Please submit your research projects and ideas to be included in this section.
“I think there are people whose lives have been saved because of the study of the genome”.
Francis Collins
Canada launches first gene therapy trial for Fabry disease
Researchers in Calgary have launched the key pre-clinical human studies to support the first gene
therapy clinical trial in the world for Fabry disease.
Clinicians/ Researchers will first remove a quantity of stem cells from a Fabry patient's blood. Then a
working copy of their defective gene will be inserted into the blood stem cells using a specially
engineered virus. During the final phase of the trial, Clinicians/ Researchers plan to transplant these stem
cells back into the donor patient and the new, working copy of the gene will make the missing enzyme.
The clinical trial has been prompted by promising gene therapy results in small and large animal models
performed in the laboratory of Dr. Jeffrey Medin at the University Health Network in Toronto. Dr. Medin is
the PI of the TEAM grant that is supporting this trial. Other TEAM members include: Drs. Tony Rupar
(UWO), Michael West (Dalhousie, Ronan Foley (McMaster), Armand Keating (PMH), Sandra Sirrs (UBC),
Chantal Morel (UHN), Christiane Auray-Blais (sherbrooke) and Julian Raiman (HSC).
The project is being funded by the Canadian Institutes of Health Research and the Kidney
Foundation of Canada.
For more information about the trial, please contact:
Dr. Aneal Khan
University of Calgary's Alberta Children's Hospital Research Institute
Calgary
Dr. Jeffrey Medin
Principal Investigator
University Health Network
Toronto
Longitudinal Study of Urea Cycle Disorders
The Longitudinal Study of Urea Cycle Disorders is a prospective, long-term, observational study will be
looking at how Urea Cycle Disorders affect patients, both physically and neurologically, and how
available therapies are working (including liver transplantation). The study collects data that is typically
collected during routine clinic visits as standard of care. After enrollment, we will conduct a baseline
visit at the Hospital for Sick Children. The study is the central project of a multisite collaborative network
on Urea Cycle disorders. The Urea Cycle Disorders Consortium is a part of the NIH Rare Diseases
Clinical Research Network (RDCRN) and consists of 14 participating sites, 11 in the US and one each
in Canada (SickKids), Germany, and Switzerland. As per August of this year, a total of 615 subjects
have been enrolled in the study including 28 from Canada.
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For further details about this study please contact :
Dr. Andreas Shulze MD, PhD, FRCPC
Dept. of Paediatrics
Associate Professor
Staff Metabolic Geneticist, Clinician Investigator, Section Head, Genetic Metabolic Diseases Program
Clinical and Metabolic Genetics
The Hospital for Sick Children
525 University Ave, Suite 700
Toronto, ON, M5G 1X8
Munazzah Ambreen
Clinical Research Project Manager
Department of Clinical & Metabolic Genetics
The Hospital for Sick Children
525 University Ave, Suite 700
Toronto, ON, M5G 1X8
TIDE BC to improve diagnosis and therapy for inborn errors of
metabolism in intellectual disability
TIDE-BC Winter 2013 newsletter
http://us5.campaign-archive1.com/?u=cca5effef99729abde134f0b1&id=9b948839a2
or via the website
www.tidebc.org
Our Pioneers
Hommage à un pionnier – Tribute to a Pioneer
Si vous me le permettez, je vais débuter l’hommage à notre pionnier 2013 en français, et
puis, continuer en anglais, considérant que ledit pionnier est un des francophiles les plus dédiés
que je connaisse. En fait, j’aimerais vous parler de cette personne tout à fait unique, de cet
érudit, homme de science, mais aussi un homme de lettres et de savoir. J’ai eu la chance de
partager des moments inoubliables en sa compagnie et avec ma famille, moments qui resteront
gravés longtemps dans notre mémoire. Pourquoi? Parce que notre pionnier est un homme de
cœur, un pédiatre, un généticien et un chercheur qui a su faire progresser la science et la
médecine au fil des ans. Il est aussi un homme pour qui la famille revêt une énorme
importance. Il est un mari, un père et un grand-père des plus attentionnés.
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This year the tribute to a pioneer is pretty special, considering that we are presenting this
testimonial to a man often larger-than-life. In the dictionary, the definition of a pioneer is as
follows: One who ventures into unknown or unclaimed territory to settle or One who opens up
new areas of thought, research, or development. Well, this is particularly true for this year’s
pioneer.
He began his studies while in Alberta and obtained his bachelor’s degree in general
science. He then decided to pursue medical studies. After obtaining his md degree, he pursued a
master degree in biochemistry and a Ph.D. at McGill University. His Ph.D. thesis was on Fabry
disease and entitled: “The structure and metabolism of galactosylgalactosylglucosylceramide”.
He then published 2 papers in New England Journal of Medicine, one of them entitled “Ceramide
trihexosidosis (Fabry's disease) without skin lesions”. This was the start of a beautiful clinical
career, as well as a tremendous and prolific scientific career spanning over nearly 50 years. He
has published more than 210 publications, written 26 books or book chapters, given hundreds of
conferences and courses, supervised more than 30 graduate students at the doctoral, as well as
master’s degree levels, he participated and was the chairman of numerous committees on
newborn screening and lysosomal storage disorders. Moreover, in 2001, he obtained a master’s
degree in health administration. His thesis was entitled: “A study of decision-making by the
medical profession in Ontario”. During the last 6 years, he has become increasingly involved in
research on health policy issues, particularly relating to health technology assessment and how
policy decisions are made within the medical profession. As you can see, he always wanted to do
more…
Last year, at the Canadian Fabry Disease Patient Association meeting in Halifax, our pioneer
received moving tributes from patients mentioning how he had made a difference in their lives in
a profound and positive way. In fact, once, he mentioned to me how difficult it was, even after
practicing in pediatrics and genetics all these years, to inform parents that there children would
not survive due to a terrible disease afflicting them. He mentioned that this is why we have to
continue our research to learn more about the pathophysiology of diseases and try to save these
children and adults. Well, this is what he did! He managed to keep his convictions attached to
fervent ideals and novel scientific ideas to promote the health of children, as well as adults.
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The main qualities of this year’s pioneer are his curiosity, his great integrity, his
macroscopic view of the synergy between fundamental science and the clinical field. This allows
him to use all his knowledge, experience and expertise to help human beings in the best way
possible. He is dedicated to learning more to help people. He is a humanist and a visionary.
Having worked closely with him for the last few years, I must say that I have never encountered
such a devoted, dedicated and insightful person. His influence and contributions to science is
extraordinary and is renowned all over the world. And above all, he is a man who enjoys life
thoroughly, appreciating good wines and whiskeys, good food, good music (I just want to
mention: Charles Aznavour, Edith Piaf, Nana Mouskouri), good books, good films and good
company. Finally, his passion for science, medicine, his novel ideas in research and development and his devotion to patients will probably continue to inspire us all for years to come.
By now, you probably have recognized the 2013 Pioneer. In fact, this year’s pioneer is
one of the founders of the Garrod Association in Canada, and as such, it is with an immense
pleasure that, on behalf of all my colleagues, I would like to present these gifts to the 2013
Pioneer. C’est avec un immense plaisir que j’aimerais remettre au nom de tous nos collègues
réunis ici ce soir, le prix du Pionnier de l’Année 2013 à mon collègue et grand ami : Dr Joe
Thomas Roy Clarke.
Kirsten Harkins, Joe Clarke, Christiane Auray-Blais
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Newborn Screening
NEWS FROM QUEBEC NEWBORN BLOOD SCREENING PROGRAM
Following a mandate from the Ministry of Health, the screening for hemoglobinopathies begins in
November 4th 2013 at the CHU de Québec, where is the blood newborn screening
program. Thus, Quebec will be the fourth province to implement this screening and the first in
America to use Capillary electrophoresis for 2nd tier tests. (The fisrt test will be achieved by
HPLC). Screening for Hemoglobin disorders will be instantly confined to Montreal region for the
first year and will be extended to the rest of Quebec province on the second phase
Marie-Thérèse Berthier and Yves Giguère, Quebec Newborn blood screening program CHU de
Québec, Québec, Canada
In the News
Canadian Orphan Drug Regulatory Framework soon to be submitted to Parliament.
Canadians living with rare disorders will soon benefit from an Orphan Drug (OD) legislation aligned with
their American and European Counterparts. Provisions specific to OD will be incorporated in the existing
Food and Drug Regulations, including:
•
OD designation criteria and processes aligned with US and EU, promoting collaboration;
•
Regulator’s advice for clinical trials, provided by Health Canada or in conjunction with international
regulators;
•
Expert advice and patient representation, to support the best possible decision making;
•
Transparency and information sharing throughout the lifecycle, available to healthcare providers,
health technology assessors and patients, including posting of OD designation, clinical trial
registration, market authorisation and post-marketing plans;
•
Lifecycle approach to take into account a wide body of evidence before and after a drug is
marketed;
•
Issuing of Market Authorisation (MA) that can be amended, reassesses, suspended in whole or in
part or cancelled, in contrast to the existing Notice of Compliance (NOC) structure.
This new integrated approach will move away from the current static, moment-in-time means of
regulating into a more balanced, dynamic and fluid set of interventions that will better serve the patient’s
needs while maintaining strong safety oversight.
Patients, physicians, industry, drug reviewers and payers were recently invited to take part in a
Consultation tour hosted by the Canadian Organisation for Rare Disorders (CORD), in collaboration with
Health Canada, to address if the proposed policy can promote access to OD that is timely and
appropriate for patients, sustainable for payers and rewarding and incentivizing for innovators.
Comments and feedback gathered during the consultation will be incorporated into the final version of the
proposal. You may read more on the Canadian Orphan Drug Regulatory Framework on CORD’S website
at www.raredisorders.ca.
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Garrod Meeting, Sherbrooke 2013
Lecture theatre at the end of the Garrod/AMGQ joint symposium. Back row, John
Mitchell (Garrod president at the time) and Bruno Maranda (president of the
Association des Médecins Généticiens du Québec); Front row, Paula Waters and
Christiane Auray-Blais (two members of the local organising committee) with Kirsten
Harkins, who gave a presentation on behalf of the Canadian MPS Society
Siboire microbrewery in Sherbrooke, as a little gang of stragglers relaxed after the meeting. Perhaps suffice to say
that the group included one of our invited speakers, Keith Hyland with his wife Lauren, together with a sprinkling of
pan-Canadian 'Garrodians' and members of the Quebec medical genetics community
Submitted by Dr. Paula Waters
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Dietitian's Corner
Listed below are a few resources and meetings to consider:
April 24 - 26th: Fifth GMDI Educational Conference: Broadening Horizons in Clinical Practice @
the Hilton DFW Lakes Conference Centre, Grapevine, Texas. See www.gmdi.org for more
information
April 26 - 27: Metabolic University Lite following the GMDI conference in Grapevine, Texas.
Contact [email protected] or see www.medicalfood.com/mu.php for
more information
Trying to locate a dietitian in metabolics? Check out "Find A Metabolic Dieititian in the United
States or Canada" @ www.gmdi.org
Check out newly released MSUD Nutrition Guidelines by GMDI and Southeast Regional NBS
and Genetic Collaborative (SERC) @ www.southeast/genetics.org/ngp
Submitted by Suzanne Ratko, RD
Support Groups
Many patients are using the internet to connect with other individuals with the same condition or
to learn more about the condition. Below is a list of known, active support groups that provide
information and support for individuals and their families, as well as raise awareness and
advocate for individuals with these conditions. Many of these groups also host annual or
bi-annual family conferences or fundraising events.
It can be very timely to keep track of all of the active support and advocacy groups, so please
email [email protected] to inform if a support group has been overlooked.
Respectfully Submitted by
Melanie Napier, MSc, CGC, CCGC
Adrenoleukodystrophy (ALD) - ALD Support: adrenoleukodystrophysupport.org
Biotinidase deficiency - Biotinidase Deficiency Family Support:
biotinidasedeficiency.20m.com
Fabry Disease - Canadian Fabry Association: www.fabrycanada.com
Fatty Acid Oxidation Defects (MCAD, VLCAD, CPT2, etc) - FOD Family Support Group:
www.fodsupport.org
Gaucher Disease - The National Gaucher Foundation of Canada: www.gauchercanada.ca
Glycogen Storage Diseases (GSD) - Association for Glycogen Storage Disease:
www.agsdus.org
Krabbe Disease - Hunter’s Hope Foundation: www.huntershope.org
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Leukodystrophies - United Leukodystrophy Foundation: www.ulf.org
Maple Syrup Urine Disease (MSUD) - MSUD Family Support Group: www.msud-support.org
Metachromatic Leukodystrophy (MLD) - MLD Foundation: mldfoundation.org and Bethany’s
Hope: www.bethanyshope.org
Mitochondrial diseases (MELAS, MNGIE, etc) - Mito Canada: www.mitocanada.org
Mucopolysaccharidoses (MPS) - MPS Society: www.mpssociety.ca
Niemann-Pick Disease - Canadian Chapter of the National Niemann-Pick Disease
Foundation: www.nnpdf.ca
Organic Acidemias (MMA, Isovaleric Acidemia, etc) - Organic Acidemia Association:
www.oaanews.org
Phenylketonuria (PKU) and Hyperphe - CanPKU: www.canpku.org
Pompe Disease - International Pompe Association: www.worldpompe.org
Porphyria - American Porphyria Foundation: www.porphyriafoundation.com
Urea Cycle Disorders (OTC Deficiency, ASA Lyase Deficiency, etc) - National Urea Cycles
Disorders Foundation: www.nucdf.org
CanPKU
2014 Education Event Season Announced!
We are excited to share with you a few details regarding our event series for next year. Make
sure you Save the Date for the event in your area!!
Saturday, April 5, 2014: Vancouver, BC
BC Children's Hospital with keynote speakers Dr. Jerry Vockley and Dr. Denise Ney Saturday,
May 3, 2014: Moncton, NB
Future Inns Hotel and Conference Centre. Speakers to be confirmed Ryan Clarke from
Advocacy Solutions will be speaking at our event in Moncton, NB
Saturday, May 17, 2014: Red Deer, AB
Gaetz Memorial United Church with keynote speakers Dr. Barbara Burton and Dr. Kendra
Bjoraker
Sunday, June 1, 2014: Ottawa, ON
Children's Hospital for Eastern Ontario with keynote speakers Dr. Jerry Vockley and Dr. Beth
Potter
Saturday, October 18, 2014: Quebec City, QC
Four Points by Sheraton Québec Resort with keynote speaker Dr. Denise Ney
Start thinking now about hosting a Walkathon in your community on Saturday, May 31st to finish
May as PKU Awareness Month! This is a simple way to build community and show your support
for CanPKU that literally can be organized in just a few hours. Let us know if you are interested
in hosting a walk and we will make it super easy for you!
And finally, stay tuned for a special event happening this year only, in Summer 2014!
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Future Conferences
February 10-14, 2014
Lysosomal Disease Network- 10th Annual WORLD Symposium
San Diego, California Abstract deadline: 1 October 2013
March 9-12, 2014
SIMD 37th Annual Meeting
Asilomar, California.
March 25-29, 2014
ACMG Annual Meeting
Nashville, Tennessee,
April 1-2, 2014 SSIEM
Academy Training Course
Paris, France
May 29-31, 2014
Joint Garrod and Canadian Newborn & Child Screening Symposium
Ottawa, Ontario
www.cncssymposium.com
June 20-22, 2014
The XIII International Congress of Pediatric Laboratory Medicine
Istanbul, Turkey
www.icplm2014.org
September 2-5, 2014
SSIEM Annual Symposium 2014
Innsbruck, Austria
Grants and Awards
"Garrod Grant" was awarded to Dr. Yannis Trakadis and Dr. John Mitchell. “Psychosis: Clinical
Evaluation for Inborn Errors of Metabolism” for $14,200.
Our Young “Stars”
Justin - Age 7
MPS 1
Jasper - Age 4
MPS VI
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