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RDMM Newsletter  
Spring 2019

RDMM Shares Network Knowledge at International Symposium

RDMM’s co-director, Dr. Phil Hieter, was invited to give a plenary talk at the 2nd International Symposium for Model Organism Research on Human Rare Diseases held March 4th in Tokyo, Japan.  He provided a summary of the overall structure of the RDMM, the processes used to make collaborative connections between clinicians and model organism researchers, and our experience since the network’s launch in October 2014, during which time 90 catalyst grants were awarded.  The meeting’s host, Dr. Ituro Inoue of the Japanese National Institute of Genetics, is leading the Japan-RDMM (J-RDMM) initiative, which was modeled on the Canadian RDMM, and has been funded since December 2017. A major area of discussion was the possibility of establishing an international network of networks that would include the J-RDMM effort, together with RDMM initiatives in Europe and Australia. Overall there was strong support for international collaboration among the RDMM initiatives, and commitment to incorporate international ties as the various RDMM efforts are initiated and/or renewed for funding.
(In the spirit of international cooperation, at the end of his talk, Phil presented Dr. Inoue with a baseball hat from the Vancouver Canadians, a farm team of the Toronto Blue Jays. Dr. Inoue wore the hat during the after-symposium reception.)

Re(ACT) Congress America and CORD Conference

In its fifth year, the Re(ACT) Conference was held in Canada for the first time earlier this month. Scientific leaders, experts, and young researchers from across North America came together to present cutting-edge research on rare and orphan diseases to the general public, industry and policy makers—all with the ultimate goal of enhancing the rapid delivery of new and promising diagnostics and therapies to patients all around the world.
This year’s CORD conference, “A Rare International Dialogue”, was held in conjunction with the Re(ACT) Congress, and co-hosted by Rare Disease International and the Canadian Organization for Rare Disorders. Dr. Boycott presented “Diagnostic Breakthroughs: The path to the right test at the right time” during the How Rare Disease Helped Transform the Healthcare Landscape session.

Genomics of Rare Disease

Alison Eaton (CHEO) presenting on Landscape of treatable rare diseases in a founder population

For the fifth consecutive year, RDMM’s Dr. Kym Boycott sat on the scientific planning committee for the Genomics of Rare Diseases meeting, held this past March at the Wellcome Genome Campus in the UK. This year’s conference focused on large-scale whole genome sequencing studies and explored the intersection of polygenic and monogenic disorders and the impact on the understanding of rare diseases. Dr. Boycott also chaired a session—Solving the unsolved—and the success of the Canadian RDMM network was presented as a poster

New Scientific Advisory Committee Member

RDMM is pleased to announce that Dr. Catharine Rankin will be joining the Scientific Advisory Committee. Dr. Rankin is a professor in the Department of Psychology and a member of the Centre for Brain Health at the University of British Columbia. She will be replacing Dr. Michel Leroux (SFU), who will be stepping down from the SAC. He has been with the committee since the start of the network, and the network would like to thank him for giving his expertise and time to RDMM and helping the network achieve its objectives.

Dravet Canada Award Recipients

Earlier this year RDMM and Dravet Canada held its second open call for proposals utilizing a model organism approach to investigate disease pathogenesis to inform therapeutic strategies related specifically to Dravet Spectrum Disorder. The following investigators were awarded catalyst grants.

  • Drs. Pierre Drapeau and Éric Samarut (Research Center of the University of Montreal Hospital Center) will use patient-specific zebrafish avatars to test the efficacy of a panel of anti-epileptic drugs, as well as the effectiveness of the most recently discovered medicines.

  • Dr. Karun Singh (McMaster University) will use mouse models to study the R1312T SCN2A mutation associated with Dravet Syndrome to determine how it alters brain development, as well as the impact of the R1312T mutation on seizures.

  • Dr. Shuzo Sugita (University of Toronto, Krembil Brain Institute, UHN) will use C. elegans and mouse models to investigate how mutations in the STXBP1 gene affect neurotransmitter release from brain cell terminals.

Important Reminder

If you have not yet entered your genes of interest, please do this now so that we have the potential to connect the research in your lab to newly discovered disease genes as they are discovered and as we receive them.

New Publications

Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy
Journal: Translational Medicine
Awardees: Sarah Childs and Brenda Gerull
Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma
Journal: Human Molecular Genetics
Awardees: W. Ted Allison and Michael Walter
Glutaminase deficiency caused by short tandem repeat expansion in GLS
Journal: The New England Journal of Medicine
Awardees: Britt Drögemöller, Colin Ross, Clara van Karnebeek and Xiao-Yan Wen

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