CureDuchenne has made a significant commitment to develop and maintain a biobank dedicated to Duchenne muscular dystrophy — the CureDuchenne Biobank. The CureDuchenne Biobank will help clinicians and researchers spend their time doing what they do best — investigating important research questions. CureDuchenne is intimately connected to the families and patients affected by Duchenne, as well as the researchers looking for a cure. As such, we are uniquely able and committed to this long-term initiative to provide an open access resource for all researchers, and we will ensure samples are sent to qualified scientists so that there are fewer barriers to finding a cure for Duchenne.
In partnership with Dr. Tahseen Mozaffar of the University of California, Irvine (UCI) for strategic development and implementation, and with RUCDR Infinite Biologics (RUCDR), the world’s largest university-based biorepository, we started our first collections at 2019 FUTURES, our national conference. Families lined up to schedule donations and 31 samples were collected over the weekend. Additional collections will take place across the country at CureDuchenne Cares events.
Melanie Meton, RN Clinic Coordinator from UCI said, “It was inspiring to see their willingness to donate. They are truly a community.”
Coulis Gerald, PhD, postdoctoral scientist at UCI under Dr. Armando Villalta, is one of the first researchers to use our samples and shared, “It gives us extra motivation to push forward. It is amazing to witness the strength of the patient in person, especially for a researcher like myself that often stays in the lab until 11 PM on Saturday.”
This initiative all started with a request. When I started my position at CureDuchenne, I was asked to find the gaps. Filling the gaps would help get us to the cure that we do not yet have but is in sight. Is there a scientist, clinician or advocate with a novel idea that will make all the difference for our families?
As I spoke to individuals from different institutions and companies that were tackling Duchenne in different ways, I found that there was a common unmet need for patient samples in research. Coulis Gerald, PhD, explained “It is extremely difficult to get samples outside events like CureDuchenne’s conference.” This can be due to limitations in sharing samples across institutions and other research entities. With the CureDuchenne Biobank, we will ensure samples are available to all researchers.
A patient sample or biospecimen is a sample of material, such as blood, tissue, cells, DNA, RNA, and protein from humans. The lack of biospecimens has been well documented in disease research. For example, in 2002 The National Cancer Institute (NCI) sent a survey to their funded investigators, members of other federal agencies, cancer centers, industry and advocacy groups concerning needs for human biospecimens. The respondents agreed that a lack of standardized, high-quality biospecimens with well-organized data has slowed the progress of cancer research. The same holds true for rare diseases where only 5% have a treatment approved by the Food and Drug Administration, according to the National Organization for Rare Disorders (NORD).
Human specimens have been collected and stored at institutions in the United States and elsewhere for over 100 years (1). However, individual researchers often collected and used biospecimens in isolation; resulting in inconsistent collection, shipping, and processing protocols, poor quality specimens and ultimately suboptimal experimental results. Furthermore, biospecimens were collected for a single study at a time, and international collaborations were limited due to a lack of funding. As the years have passed, biospecimens have been used in research to investigate disease progression, to test scientific hypotheses and to assess biomarkers identified in experimental studies.
A Biobank is defined by the Organisation for Economic Co-Operation and Development (OECD), as a collection of biological material and the associated data and information stored in an organized system, for a population or a large subset of a population. Biobanks have been crucial for research efforts, and we have seen several major universities, foundations and governments take on the challenge:
- The AIDS Specimen Bank (ASB), a disease-centric biobank at the University of California, San Francisco (UCSF), was started in December 1982 in response to the early challenges of the AIDS epidemic when the causative agent for AIDS was not known. Forty years later, it is a major resource for investigators at UCSF and worldwide.
- The UK biobank was created for a wide range of serious and life-threatening illnesses, including cancer, cardiovascular disease, diabetes, osteoporosis, depression and forms of dementia and has reported recruiting 500,000 people aged 40-69 years during 2006-2010.
- The National Cancer Institute (NCI) established the US National Cancer Human Biobank, caHUB, in late 2009 to support studies in gene-specific tissue expression and proteomics in cancer research.
- In 2013, the new Finnish Biobank Act has allowed for previously collected samples to be transferred to biobanks and made available to researchers. It also introduced the idea of ‘broad consent’ for new data in Finland, which allows for samples to be used in every single project instead of researchers and organizations having to separately ask participants to give their consent for their individual studies.
For a scientist, it takes a tremendous amount of effort, money and time for every new study they plan, to find a specific group of people with a rare disease, collect their samples and medical information. The challenge is significantly amplified in rare diseases and calls for collaborating and optimizing the collection and access to the limited samples that are available. The availability of samples from patients with rare diseases and unaffected individuals (which can be used as controls) can be the deciding factor in whether or not studies can be done.
Caregivers and patients interested in learning more or participating, please contact:
Romina Foster-Bonds, Director of Programs, email@example.com
Elseman E, Haga SB. Handbook of human tissue sources. Santa Monica: Rand; 1999