Despite being collectively among the most frequent congenital developmental conditions
worldwide, differences of sex development (DSD) lack recognition and research funding. As …

One of the primary goals of genomic medicine is to improve diagnosis through identification
of genomic conditions, which could improve clinical management, prevent complications …

Cilia are highly specialized cellular organelles that serve multiple functions in human
development and health. Their central importance in the body is demonstrated by the …

Families with rare diseases (RDs) have unmet needs that are often overlooked by health
professionals. Describing these needs and the impact of the disease could improve their …

Abstract Purpose A Renal Genetics Clinic (RGC) was established to optimize diagnostic
testing, facilitate genetic counseling, and direct clinical management. Methods Retrospective …

Rare diseases are increasingly recognized as a global public health priority. Governments
worldwide currently provide important incentives to stimulate the discovery and development …

Precision medicine strives for highly individualized treatments for disease under the notion
that each individual's unique genetic makeup and environmental exposures imprints upon …

Background Given the increased availability of data sources such as hospital information
systems, electronic health records, and health-related registries, a novel approach is …

Background Rare and severe neurological disorders in childhood not only heavily affect the
life perspective of the patients, but also their caregivers and families. The aim of this study …

Genomic testing is becoming routine for diagnosing rare childhood genetic disease.
Evidence underlying sustainable implementation is limited, focusing on short-term endpoints …