In this issue: What are biomarkers and why are they important? Rare Diseases: Maintaining Momentum (From The Lancet). Introduction of PubMed.
Welcome to the first edition of our weekly updates on all things SDS and Science. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Please let us know! This is all for you!
What are biomarkers and why are they important?
As we continue to expand the toolbox by investing into critical tools and infrastructure for SDS research, let's take a look what biomarkers are and why they are so important. In the video below, Dr. Janet Woodcock of the U.S. FDA states simply: “biomarkers are characteristics of the body that you can measure.” Discovering new biomarkers is a crucial step in both diagnosing disorders as well as evaluating potential treatments. Biomarkers are used in clinical trials to measure how well the body responds to the potential treatment. Without it, we won't be able to tell if a treatment has any benefit at all. Examples of biomarkers include your basic blood pressure, heart rate, and blood counts such as ANC (neutrophil count), but also more complex markers within our bodies that may be especially relevant for SDS. Dr. Woodcock stresses how crucial it is to improve the clinical trial process and success rate by identifying novel biomarkers so scientists can tell earlier on whether an investigational drug is safe and effective. Another important consideration is how the biomarkers we measure translate to actual improvement to the quality of life of patients.
Rare Diseases: Maintaining Momentum (From The Lancet)
Affecting over 300 million people worldwide, rare diseases are hardly rare. Many are difficult to diagnose, and SDS is no exception. These challenges have been compounded during the COVID-19 pandemic, which, in Europe, resulted in more than 80% of patients having essential consultations cancelled... and the situation in North America is similar.
Nevertheless, there is cause for hope. According to a new report from Global Genes, a leading rare disease advocacy organization - yes, the SDS Alliance is a member - , investment in rare diseases has increased sharply. In 2021, drug developers invested a total of US$22·9 billion for research on rare disorders, an increase of 28% compared with 2020.
"The International Rare Diseases Research Consortium (IRDiRC), a public–private partnership, aimed to achieve two main objectives by 2020: to diagnose most rare diseases and to deliver 200 new therapies. The latter goal was achieved in 2017, 3 years ahead of schedule, and the goal for diagnostics is within reach. Looking to the future, IRDiRC have set three new ambitious targets for the next decade: for all patients coming to medical attention with a suspected rare disease to be diagnosed within 1 year and all currently undiagnosable individuals to be able to enter a research study; for 1000 new therapies for rare diseases to be approved; and for methodologies to assess the impact of diagnoses and therapies on patients. Through the work of ongoing and new multi-stakeholder initiatives, these targets are within reach."
We are working hard to make sure SDS is part of this revolution.
One such initiative is the Patient Identification and Engagement for RARE CNS Disorders (PIE4CNS) multi-stakeholder initiative, which aims to address barriers to timely diagnosis and to engagement of patients with clinical research in gene therapy and other promising novel technologies. We are grateful to have had the opportunity last year to participate in this effort, and look forward to help with the next stage as well.
Collaboration is essential to avoid geographic or disease-based silos. In this respect, the European Reference Networks have been instrumental in facilitating the exchange of knowledge between health-care professionals across borders, ameliorating diagnosis and care, and will also be helpful to facilitate recruitment of patients across countries for future trials. Over the past several months, we have expanded our collaboration with the European SDS and neutropenia research community. We will share more, soon.
New on PubMed
The SDS research community is small, so we don't expect SDS specific scientific publications every week, and not every new publication is relevant. But if there are any good ones, we will cover them in this section of snapshot posts. If you need access to a full text article, and its not available through the PubMed link, we may be able to help you. Email us at library@SDSAlliance.org.
Here is a quick over view of what PubMed is and how it works.