Demystify Your Disease’s R&D Readiness

Disease Knowledge

Therapies may target the cause (etiology) of the disease. Therapies may also target a protein or other molecule involved in the biological paths that lead to symptoms of the disease (disease pathology). Therefore, it is important to understand what is known about your disease and what information may still be needed to provide an opportunity for a potential target to be chosen.

• Cause (etiology): One of the prime targets for researchers trying to develop a therapy is the cause of the disease.  At the molecular level, targets for therapies may include a specific gene, RNA, protein, changes in cell processes, and infectious organisms (bacteria, viruses, fungi, etc).  For example, if your disease has a genetic basis:
  • Is the causative gene known? 
  • Is there more than 1 gene involved? 
  • Is the function of the gene clear? 
  • Is it known in which cell types the gene is expressed? 
  • Is the expression of the gene different in different cell types or at different times during a person’s life? 
  • Are all the mutations that cause the disease known and characterized? 
  • Do all mutations causing the gene affect the gene in the same way, such as stopping the gene from being made into a functional protein? 
  • Can specific mutations predict severity of symptoms, age of onset, or progression? 
  • Can different mutations in the same gene cause different diseases? Are there other genes that may be involved in the variability and severity of the symptoms associated with your disease? 
• Disease process (pathology): Knowing the genetic changes or basic molecular change that can cause a disease does not necessarily mean researchers know how that change manifests in different symptoms and features associated with a disease. In fact, in some cases, the cause may not be well understood or may be a combination of genetic and environmental factors. In either case, the more that is known about the disease process, the more possible targets are available for the development of therapies. For example, if a protein is normally made from the causative gene: 
  • Is the function of the protein made from the gene understood?
  • Does the protein affect the expression of other genes?
  • Is the protein an enzyme in a biological pathway or multiple biological pathways?
  • What biological pathways are disrupted when the level or function of the protein made from the causative gene is changed?
  • Are there other biological processes involved in causing the symptoms and features associated with the disease?
  • Are any of the pathways or biological processes associated with other disease processes?
• Learn more: The beginning of the video presentation The 10 Things You Need to Pursue Research For Your Disease: What Are the Options for Research and Why is it so Hard? (2015) provides a quick overview of the type of research and research tools that lay the groundwork for  drug development for a rare disease .  The presenter is Brad Margus, who is both a parent of two children with a rare disease and a founder of a nonprofit patient group for that disease. Brad did not start out with a strong background in science and presents his advice for navigating the process of research for rare diseases in an empowering and practical manner. The presentation was taped at a Global Genes Advocacy Summit.

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