A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …

Currently, there are about 7000 identified rare diseases, together affecting 10% of the
population. However, fewer than 6% of all rare diseases have an approved treatment option …

Deoxyribonucleic acid (DNA) banking is an important laboratory service that preserves the
option of future genetic testing. DNA bank consent forms are a critical tool to facilitate …

Genome sequencing and gene-based therapies appear poised to advance the
management of rare lipoprotein disorders and associated dyslipidaemias. However, in …

Background Rare diseases (RD) are a diverse collection of more than 7–10,000 different
disorders, most of which affect a small number of people per disease. Because of their rarity …

The past decade has witnessed a rapid evolution in rare disease (RD) research, fueled by
the availability of genome-wide (exome and genome) sequencing. In 2011, as this …

Accurate diagnosis is the cornerstone of medicine; it is essential for informed care and
promoting patient and family well-being. However, families with a rare genetic disease …

Importance Children with medical complexity (CMC) represent a growing population in the
pediatric health care system, with high resource use and associated health care costs. A …

Rare diseases (RDs) are complicated health conditions that are difficult to be managed at
several levels. The scarcity of available data chiefly determines an intricate scenario even …

The identification of causative genetic variants for hereditary diseases has revolutionized
clinical medicine and an extensive collaborative framework with international cooperation …