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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.

Resources

Disease Knowledge
The 10 Things You Need to Pursue Research For Your Disease: What Are the Options for Research and Why is it so Hard? Global Genes (link)
Research Tools
How Biomarkers Can Improve the Drug Development Process U. S. Food and Drug Administration (FDA) (link)
Rare Diseases Registry Program (RaDaR) National Center for Advancing Translational Sciences (NCATS) (link)
Genetic Therapies
What is Gene Therapy? U. S. Food and Drug Administration (FDA) (link)
Human Gene Therapy for Rare Diseases U. S. Food and Drug Administration (FDA) (link)
Global Genes LIVE!: Is Gene Therapy Right for Your Disease? Global Genes (link)
Global Genes LIVE!: Gene to Therapy: How Individualized Therapies Are Becoming Reality Global Genes (link)
Global Genes LIVE!: Harnessing the Power of New Genomic Frontiers Global Genes (link)
A Guide to Gene Therapy Global Genes (link)
Gene Therapy Yesterday, Today and Tomorrow National Organization for Rare Disorders (NORD) (link)
The Science Behind Gene Therapy National Organization for Rare Disorders (NORD) (link)
The FDA's Role in Gene Therapy National Organization for Rare Disorders (NORD) (link)
Understanding the Gene Therapy Process and Aftercare National Organization for Rare Disorders (NORD) (link)
Life After Gene Therapy National Organization for Rare Disorders (NORD) (link)
What is genome editing? National Human Genome Research Institute (NHGRI) (link)
What are genome editing and CRISPR-Cas9? MedlinePlus (link)
What is CRISPR-Cas9? Wellcome Genome Campus YourGenome (link)
Somatic Cell Genome Editing National Center for Advancing Translational Sciences (NCATS) (link)
CAR T Cells: Engineering Patients’ Immune Cells to Treat Their Cancers National Cancer Institute (NCI) (link)
Finding Disease and Technology Info
PubMed National Library of Medicine (NLM) (link)
Creating Alerts: PubMed NIH Library (link)
ClinicalTrials.gov National Library of Medicine (NLM) (link)
CenterWatch Clinical Trial Listings CenterWatch (link)
Institutional Review Boards Frequently Asked Questions U.S. Food and Drug Administration (FDA) (link)
Research Portfolio Online Reporting Tool (RePORTER) National Institutes of Health (NIH) (link)
List of Registries National Institutes of Health Clinical Center (link)
Keeping Up with Advances
Free NIH Email Updates National Institutes of Health (NIH) (link)
News & Events for Human Drugs U. S. Food and Drug Administration (FDA) (link)
What's New Related to Drugs (CDER New) and other drug-related topics U. S. Food and Drug Administration (FDA) (link)
Preclinical Innovation National Center for Advancing Translational Sciences (NCATS) (link)
Core Technologies National Center for Advancing Translational Sciences (NCATS) (link)
Monthly NCATS e-newsletter National Center for Advancing Translational Sciences (NCATS) (link)
Receive NCATS Announcements National Center for Advancing Translational Sciences (NCATS) (link)
Accomplishments in Genomic Medicine National Human Genome Research Institute (NHGRI) Genomic Medicine Working Group (GMWG) (link)
2019 Genomic Medicine Year in Review National Human Genome Research Institute (NHGRI) Genomic Medicine Working Group (GMWG) (link)
News and Events from NCI-funded Research and Programs National Cancer Institute (NCI) (link)
Genomics and Precision Health Weekly Update Centers for Disease Control and Prevention (CDC) (link)
PhRMA: Scientific Discoveries Pharmaceutical Research and Manufacturers of America (PhRMA) (link)
PhRMA: Research and Development Pharmaceutical Research and Manufacturers of America (PhRMA) (link)
Global Genes Latest News Global Genes (link)
Global Genes Rare Daily Global Genes (link)
Global Genes Event Hub Global Genes (link)
Sign Up for NORD Email Updates National Organization for Rare Disorders (NORD) (link)
Rare Disease Scientific Workshop EveryLife Foundation for Rare Diseases (link)
OrphaNews Orphanet (link)