The University of Wisconsin Center for Human Genomics and Precision Medicine patients page answers frequently asked questions and provides resources for patients and their families.
Month: March 2022
National Organization for Rare Diseases (NORD) Disease Video Library
The NORD Rare Disease Video Library houses educational videos on rare diseases for patients, caregivers, students, professionals and the public. NORD works with medical experts and patient organizations to develop the videos, which are made …
Resources to assist individuals and their families in understanding family health history, signs/symptoms, and screening/testing options along with their implications, diagnosis, treatment, and long-term follow-up. Information about genetic research and clinical trials.
Genetic Testing Registry (GTR)
The Genetic Testing Registry (GTR®) provides a central location for voluntary submission of genetic test information by providers.
Genetic and Rare Diseases Information Center (GARD)
GARD is a program of the National Center for Advancing Translational Sciences (NCATS) to provide access to current, reliable, and easy to understand information about rare or genetic diseases in English or Spanish.
Elements of Morphology: Human Malformation Terminology
Defines uniform and internationally accepted terms to describe the human phenotype for the craniofacies in general, the major components of the face, and the hands and feet.
Clinical Trials is a database of privately and publicly funded clinical trials conducted around the world.
Atlas of Human Malformation Syndromes in Diverse Populations
The purpose of this website is to provide a tool that is helpful for the clinician in diagnosing syndromic disorders across varied populations.
ACMG ACT Sheets
The ACMG ACT Sheets and their accompanying algorithms are great resources for health care providers looking for information on genetic conditions (identified through newborn screening and beyond) to help inform clinical decision making.
National Organization for Rare Diseases (NORD)
The purpose of NORD Online Physician Guides is to provide a resource for clinicians about specific rare disorders to facilitate the timely diagnosis and treatment of their patients. Family physicians, pediatricians, and other primary care …