These resources offer helpful information to support a wide scope of audiences, including patients, caregivers, advocates, researchers, and health care providers:

• Global Genes is a non-profit organization dedicated to eliminating the burdens and challenges of rare diseases for patients and families globally.

• National Organization for Rare Diseases a nonprofit organization that promotes research, advocacy, awareness, and public policies that benefit rare disease communities nationwide.

• Rare Disease Research an independent clinical research site, is 100% dedicated to conducting clinical research, accelerating the development of safe and effective treatments for rare diseases, and providing access to innovative investigational therapies to patients with rare diseases. 

• NORD Center of Excellence-Georgia
  https://rarediseases.org/center-of-excellence/emory-division-of-medical-genetics-childrens-healthcare-of-atlanta/

• Newborn Screening: The Newborn Screening Program, managed by the Georgia Department of Public Health, allows for the testing of every newborn in GA to check for harmful disorders that aren’t otherwise apparent at birth. This GA DPH website offers manuals for and information about the disorders for which the testing screens, as well as information sheets on the various disorders for both medical providers and parents/caregivers.

• Rare Advocacy Movement represents a rare disease patient and caregiver ecosystem that relies upon specialized global collaborations to address the needs of the patient and caregiver community from the community perspective.

• Rare Diseases Clinical Research Network is designed to advance medical research on rare disease by providing support for clinical studies and facilitating collaboration, study enrollment, and data sharing.

• Rare Disease Day is held annually on the last day of February to raise awareness and promote research and advocacy for the rare disease community.

• Rare Disease Diversity Coalition unifies rare disease experts, health and diversity advocates, and industry leaders to identify and advocate for evidence-based solutions to alleviate the disproportionate burden of rare diseases on historically marginalized populations.

• Rare Wish -mission is to improve the quality of life for rare families by granting wishes, funding clinical innovation, and offering free healthcare tools.​

In addition to these organizations, the Georgia Rare Disease Advisory Council has identified additional online resources that they have organized for patients, advocates, providers, and researchers, and categorized according to topic areas relevant to those specific groups.

 

We also encourage you to visit our Research page if you are seeking white paper publications, Code Rare Case Studies, or STRIDES Stat research to learn more and volunteer.

 

OMIM-online mendelian inheritance of man. An online catalogue of human genes and genetic disorders.

Clinical Trials-an online database of clinical research studies and information about their results posted by the NIH National Library of Medicine

Medscape-the latest news and journal articles on rare diseases.

PubMed-PubMed® comprises more than 37 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full text content from PubMed Central and publisher web sites.

Genetic and Rare Disease Information-National Institute of Health center for information and resources on rare diseases.