Durhane wong rieger biography definition

Dr Kirsten Johnson is the President and one of the founders of Fragile X International. She also sits on the boards of EURORDIS - Rare Diseases Europe.

Kirsten is a FMR1 premutation carrier and has two adult daughters who live with Fragile X Syndrome. Her husband lives with a rare cancer, hairy cell leukemia. Kirsten works as a professional musician.

Kirsten was one of the co-authors of the 2022 Cells article which led to the renaming of the FMR1 gene and protein, removing offensive and outdated terminology. She has also co-authored a 2020 article in Frontiers, on Fragile X Premutation Associated Conditions 'and was lead author on a 2024 article in JARID on a holistic approach to Fragile X Syndrome.

Kirsten says, “Like many people globally, I had not heard of our rare conditions until my daughters and husband were diagnosed. As a member of RDI’s Council, I will work for global policies on diagnosis, treatment and support, so that no-one is discriminated against or left behind.”

“I am keen to support RDI’s development of a Global Network for Rare Disease, believing that a person-centred global network of care and expertise will benefit all PLWRD worldwide."

“My vision is to have an inclusive world where everyone living with a rare condition, whether it is physical, mental, intellectual or a combination thereof, is valued and included as an equal member of society. As an RDI Council member I will be a strong voice for people living with rare conditions around the world, advocating that rare diseases are an international policy priority and supporting the empowerment of RDI members through knowledge exchange, networking, mutual support and joint actions. Alone we can make a difference, but together we can change the world.”

The plight of patients with rare diseases is critically undervalued in healthcare. The statistics are frightening: There are 7000 rare diseases in the world that collectively affect 350,000,000 people. One in 11 Americans has a rare disease. Three-quarters of patients with rare diseases are children. Only half of patients receive an accurate diagnosis. The average delay for a patient to receive a diagnosis of a rare disease is 1.5 years. One in four patients with a rare disease waits 4 years for an accurate diagnosis.

There is an urgent need to advocate for the millions of people worldwide living with rare disease. Advocacy, defined as the public advancement of a cause, has many facets, and includes campaigning for more research funds, activism to eliminate discrimination, lobbying governments to improve access to healthcare, and crusading for the needs of patients’ caregivers.

In this first webinar in the 2023 Science/AAAS Fondation Ipsen series on advocacy in rare disease, we examine the advocacy landscape, asking: what does advocacy entail, who are advocates, what organizations are involved with rare disease advocacy, what determines how umbrella organizations allocate resources, and what is effective—examining success stories of when advocacy has worked.

Join our webinars and let’s collectively advocate for people living with rare disease and their caregivers.

Our guets, all recognized experts in Rare Disease

– Durhane Wong-Rieger, Ph.D. (Canadian Organization for Rare Disorders (CORD), Ontario, Canada)
– Michael Manganiello (Pyxis Partners, Washington, DC)
– Marc C. Patterson, M.D. (Mayo Clinic, Rochester, MN)
– Flaminia Macchia, M.A. (Roche, Brussels, Belgium)
– Erika Gebel Berg, Ph.D, our moderator

Report of the IG Review Panel

February 2018

At the Canadian Institutes of Health Research (CIHR), we know that research has the power to change lives. As Canada's health research investment agency, we collaborate with partners and researchers to support the discoveries and innovations that improve our health and strengthen our health care system.

Canadian Institutes of Health Research
160 Elgin Street, 9th Floor
Address Locator 4809A
Ottawa, Ontario K1A 0W9

This publication was produced by the Canadian Institutes of Health Research. The views expressed herein do not necessarily reflect those of the Canadian Institutes of Health Research.

IG Review Panel:

Chair: Daniel Durocher, Senior Investigator, Lunenfeld-Tanenbaum Research Institute, Canada.

Panel Members:

• Bartha Knoppers, Professor and Director, Centre of Genomics and Policy, McGill University, Canada.
• Monica Justice, Professor of Molecular Genetics, Program Head and Senior Scientist, University of Toronto, Canada.
• Durhane Wong Rieger, President and CEO of the Canadian Organization for Rare Disorders, Canada.
• Han Brunner, Professor and Head of Clinical, Maastricht UMC+, Netherlands.
• David Valle, Director, Institute of Genetic Medicine, Johns Hopkins University, USA.

Thanks to all participants in this review and the IG CIHR Evaluation Team: Ian Raskin, Michael Goodyer, Doaa Saddek, Kim Gaudreau, Jonathan Gilbert, Jean‑Christian Maillet, Sheldon Polowin, and Carole Chow.

And special thanks to:

• Dr. Paul Lasko, Scientific Director, IG;
• Dr. Étienne Richer, Associate Director, IG; and
• Dr. Eric Marcotte, Associate Director, IG.

For more information and to obtain copies, please contact: Evaluation@cihr-irsc.gc.ca.

Table of Contents

1. Executive Summary
2. Overview of the Review
   1. Institute of Genetics: Background
   2. Review Objectives
3. Observations and Recommendations
   1. Are changes needed within the current IG mandate to address