Demystify Your Disease’s R&D Readiness

Research Tools

Certain research tools are developed to help scientists understand more about the disease process. Some of these same tools, along with others, are necessary to develop a therapeutic approach, determine whether a potential therapy can move forward to clinical trials, and monitor therapeutic effectiveness throughout clinical trials. It is important to understand which tools have been developed for your disease and which ones may be needed in the future. NCATS Toolkit provides more information and resources about these and other research tools as they relate to preclinical trials in Discovery: Understand Translational Research Tools

Cell lines: Cell lines are developed from a single tissue type and are adapted to grow continuously in the laboratory. The research use of cell lines developed from specific patient populations includes:
- Isolating the genetic cause of a disease.
- Understanding gene function.
- Understanding cellular processes that may be disrupted in the diseased state.
- Testing drug metabolism and cytotoxicity.
Disease models: A disease model is an animal or cell line displaying all or some of the pathological processes that are observed in the actual human disease. For most disease research, having more than 1 disease model is ideal. The research use of disease models includes:
- Determining in which cell types or tissues a gene is expressed and when.
- Exploring the function of the gene or its protein.
- Understanding the biological processes that lead to symptoms.
- Studying how the disease develops.
- Testing potential treatment approaches.
Biomarker: Biomarkers are biological molecules found in blood, other body fluids, or tissues that are a sign of a normal or abnormal process or of a condition or disease.
- Biomarkers are useful as an indicator of change. Biomarkers may be used to:
  - Diagnose a disease.
  - Determine who is at risk to develop certain symptoms or complications.
  - Track disease progression.
  - Determine how well a person responds to a new medical therapy, including if certain subpopulations within the disease community respond better than others.
  - Serve as an end point of a study.
- How Biomarkers Can Improve the Drug Development Process is a short slide set from the U.S. Food and Drug Administration (FDA) that provides a quick overview about biomarkers.
Patient information and data: Scientific, clinical, and patient databases can guide even early stages of thearpy development by providing information on multiple members of a disease community.
- Collected patient data can help researchers learn more about:
  - Causes and pathology of disease.
  - Clinical picture of a disease.
  - Unmet needs of patients.
  - Preferences of patient population.
- NCATS Toolkit provides more information about different ways your group can help collect data in Discovery: Determine Patients’ Needs and Prepare for Clinical Trials: Perform Patient Preference Studies and highlights how information from these databases can be used throughout the therapy development process.
- Rare Diseases Registry Program (RaDaR) was developed by the National Center for Advancing Translational Sciences (NCATS) to provide information tips and resources about the development of patient registries and natural history studies. RaDaR will help you collect data from your patient group that will be useful to therapy development for your disease and in a way that will allow researchers to use the data.

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)

Rare Disease Scientific Workshop EveryLife Foundation for Rare Diseases (link)

OrphaNews Orphanet (link)