IRDiRC delivers a successful and inspiring conference: a common goal emphasised
The first IRDiRC conference was held on April 16-17 2013 in the charming city of Dublin, Ireland. Thought leaders from all over the world captured the audience with stimulating, inspirational and highly informative talks on the past, present and future of rare disease research. IRDiRC was unanimously hailed as need of the time to advance the cause of rare disease research. IRDIRC promises to contribute in development of 200 therapies for rare disease and means to diagnose all of them by 2020. Rare disease stakeholders discussed the ways and means to help reach these goals. They provided examples of success stories as well as suggestions of the innovative ways in which stakeholders can come together to fulfill this goal.
This truly international conference was attended by more than 400 participants representing Europe, North America, Australia and Asia. It was recognised by one and all that expertise in rare disease, like the patients, are scattered across the globe. It is thus imperative for the global rare disease community to put their heads together to solve the great big jigsaw of rare disease, of which everyone holds a piece. This meeting boasted of attendance from policy makers, industry leaders, academicians as well as patient organisations from around the world. Representatives from regulatory bodies such as FDA, EMA, the Canadian and Australian regulatory agencies shared their expertise and pushed the need for more regulatory success for orphan drugs. Patient organisations such as Rare Voices Australia, Eurordis and Genetic Alliance US, gave an overview of the current need of patients and how coming together with a common agenda is urgent, but also achievable. Industry partners emphatically expressed the need to work with academicians, patient organisations and regulatory bodies to significantly increase the number and quality of drugs that is accessible to all. The buzz word was collaboration, collaboration, collaboration.
Mirroring the scientific committees of IRDiRC, the conference panels were divided into 3 tracks- therapies, diagnostic and interdisciplinary track-with experts in each area presenting the current outlook and the way forward. The therapies track addressed issues that deal with providing better treatment for patients such as drug repurposing, developing innovative therapies and ensuring an open dialogue with the regulatory bodies so that the treatments developed painstakingly see the light of day. The diagnostic track articulated the current projects that are underway to identify the causes of the rare diseases, the tremendous advancements in Next Generation Sequencing including the use of data generated from it and the crucial understanding of the Human Phenome. The speakers in the Interdisciplinary track highlighted the means by which successful collaborations can lead to successful treatments and diagnostics. They also endeavoured to delineate how future challenges in the extremely complex world of rare disease research can be overcome. Economic and ethical issues such as those that have cropped up due to recent advancements in technology, especially next generation sequencing, were also discussed at length.
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Dr Ruxandra Draghia-Akli who is a champion of the rare disease cause and served IRDiRC as its chairperson with impressive results, passed on the baton to Dr. Paul Lasko, a distinguished member in the field of rare disease research. The success of this conference promises a much brighter future for rare disease patients. IRDiRC has 32 members representing research funding bodies. Organisations interested in becoming members of IRDiRC are encouraged to apply.
Go to the IRDiRC website
Photo courtesy: Lensman Photographic Agency
The Rare Disease Impact Report commissioned by Shire Human Genetic Therapies and developed in collaboration with an external advisory board reveals responses to more than 1,000 survey participants from a multi-stakeholder audience sample, to enlighten us on some extremely important aspects that affect rare disease patients on a daily basis. The report acknowledged that on average it takes more than seven years in the US and five years in the UK for a patient with a rare disease to receive a proper diagnosis which includes visits to up to eight physicians and they are typically misdiagnosed about two to three times. They also found that physicians (both primary care and specialists) often lack the time, resources and information to properly diagnose/manage patients with rare diseases, compared to more common diseases. The report states that around half of the patients and caregivers receive conflicting information from different health care professionals about treatment options in both US and UK, while half of the physicians stated there aren't enough opportunities to network with other physicians who treat rare diseases. Additionally, more than half of patients and caregivers voiced the need to furnish their healthcare professionals with information on their rare disease. The report also estimated the economic impact of diagnosing and managing rare diseases which is significant. Payer respondents reported several factors contribute to the higher costs of care for rare disease patients compared to more common diseases, including the need for more diagnostic tests (100% in the US, 80% in the UK agreed) and more costly diagnostic tests (100% in the US, 90% in the UK agreed). They also found the lack of standards and guidelines for rare disease coverage decisions particularly challenging. In addition, almost all payers delineate the dearth of data/information available to help determine the standards of care for rare diseases (95% in the US, 90% in the UK agreed). Health care coverage is US and UK differ considerably and although most surveyed patients in US had health coverage, 55% incurred direct medical expenses not covered by insurance. In UK, 18% of respondents were not covered by the National Health Service. While 37% of respondents borrowed money from family and/or friends to pay for expenses in the US, only 21% of respondents in the UK did the same. This is an extremely frustrating ordeal for rare disease patients and caregivers and takes a grave emotional toll on them. Patient respondents reported several emotional difficulties managing their disease including depression (75% in the US, 69% in the UK agreed), anxiety and stress (86% in the US, 82% in the UK agreed), isolation from friends/family (65% in the US, 57% in the UK agreed), and worry based or grim outlook of the future(90% in the US, 91% in the UK agreed). For those rare disease patients where treatment options are limited, overall they worry more, feel more depressed, interact less and feel more isolated from family and friends, compared to patients with rare diseases for which there are available treatments.
The Department of Obstetrics and Gynaecology at The Chinese University of Hong Kong (CUHK) introduced the use of Fragile X PCR technology to screen specifically for Fragile X syndrome. They are the first to introduce this technique in this region, which will help identify women who are carriers of this abnormal gene mutation causing Fragile X syndrome. CUHK said that they validated this approach on 14 full-mutation cases, 20 pre-mutation cases, and 75 normal controls and also mention that they can identify the mutation with 100% accuracy using this method.
A national registry of Japanese DMD/BMD patients named Remudy (
