Online Resources


“UNIQUE is a source of information and support to families and individuals affected by any rare chromosome disorder and to the professionals who work with them.”

Chromosome Disorder Outreach – CDO

“Education, Advocacy, Information & Support for all those affected by a rare chromosome disorder”

Talking Glossary of Genetics

“Designed to help learners at any level better understand genetic terms as explained by scientists at the NIH”

NIH Office of Rare Diseases Research

“The ORDR web site aims to answer questions about rare diseases and the activities of the ORDR for patients, their families, healthcare providers, researchers, educators, students, and anyone with concern for and interest in rare diseases.”

Genetic and Rare Diseases Information Center (GARD)

"... a collaborative effort of two agencies of the National Institutes of Health, The Office of Rare Diseases Research (ORDR) and the National Human Genome Research Institute (NHGRI) to help people find useful information about genetic conditions and rare diseases."

Genetic Alliance

"Over the past 25 years, Genetic Alliance has been the voice of advocacy in genetics.


“is a unique federation of voluntary health organizations dedicated to helping people with rare orphan diseases…”


"Orphanet is the reference portal for information on rare diseases and orphan drugs for all audiences. Orphanet’s aim is to help improve the diagnosis, care and treatment of patients with rare diseases.”

Perinatal Quality Foundation

"Improving the quality of Maternal Fetal Medicine medical services by providing state of the art educational programs, and evidence based, statistically valid systems to evaluate current practices and facilitate the transition of emerging technologies into clinical care."