Genetic Metabolic Dietitians International (GMDI) is a professional organization that provides clinical practice tools including nutrition guidelines for metabolic disorders, educational materials, recipes and cookbooks, and other resources for metabolic dietitians to use in their practice. For those looking to find a metabolic dietitian, there is a search tool, and for metabolic dietitians looking for work, a job connection page is available.
- The Management Guidelines Portal was created through a collaboration between Genetic Metabolic Dietitians International (GMDI) and the Southeast Regional Genetics Network (SERN). It offers free access to nutrition management guidelines for inborn errors of metabolism.
The Southeast Regional Genetics Network (SERN) has created emergency preparedness toolkits for several different metabolic conditions. Each one is available in both standard layout and a dyslexic-friendly layout.
Disease Info Search is a quick reference for many different genetic disorders, and includes information about clinical trials, support groups, news and events, and relevant publications.
Emory University’s Electronic Genetic Nutrition Academy (eGNA) contains free, online, educational modules on the nutritional management of inherited metabolic disorders for genetic metabolic dietitians and other clinicians. It offers a case conference series and a journal club, in addition to medical commentary.
Genetic and Rare Diseases Information Center (GARD), part of the NIH National Center for Advancing Translational Sciences, contains an online encyclopedia of information about 6,500 rare disorders, each of which affect fewer than 200,000 people worldwide, as well as a few non-rare disorders. The list can be browsed from A to Z, by category, by new entries, or by keyword search. https://rarediseases.info.nih.gov/diseases
- GARD Healthcare Professionals resources include articles about ICD coding for rare diseases, tips for healthcare professionals caring for a patient with a rare disease, and a diagnosis assist tool. Providers can also call or email a GARD information specialist to help navigate to the information that may be most useful for them.
Genetics Home Reference on MedLine Plus is a health information resource with information about more than 1,300 genetic conditions, over 1,400 genes, chromosomes, and mitochondrial DNA. It is a useful resource for both providers and patients.
GeneReviews is a database of genetic conditions, with each chapter written by experts in that particular condition and peer reviewed. There are currently 789 chapters, which are published online and can be searched by keyword.
The Medical Home Portal contains 55 diagnosis modules for primary care physicians, 38 pages with instructions regarding positive newborn screen results, and links to relevant scientific literature and other resources.
The National Organization for Rare Disorders (NORD) is a nonprofit organization with more than 300 patient organization members. NORD funds educational, advocacy, research, and patient service programs.
- The NORD Rare Disease Database includes brief introductions on various rare diseases for physicians, patients, and caregivers, which can be viewed alphabetically or searched by keyword.
- The National Organization for Rare Disorders (NORD) Online Physician Guides are available to assist primary care doctors in identifying and managing the care of patients with rare disorders.
NCC Resource Repository (ReRe) is a public access database containing resources for patients, genetics providers and other healthcare providers, public health workers, educators, policymakers, and insurers. The resources were created by the National Coordinating Center, the Regional Genetics Networks, the National Genetics Education and Family Support Center, and other partners. It is searchable by topic, intended audience, and by keyword search.