This document provides a comprehensive summary of evidence on the current situation of
rare diseases (RDs) globally and regionally, including conditions, practices, policies, and …

Computational approaches have revolutionized the field of drug discovery, collectively
known as Computer-Assisted Drug Design (CADD). Advancements in computing power …

Objective Inborn errors of immunity (IEI) are rare genetic conditions affecting the immune
system. The rate of IEI and their presentation, course, and treatment are all affected by a …

Rare diseases affect the life of a tremendous number of people globally. The CRISPR-Cas
system emerged as a powerful genome engineering tool and has facilitated the …

Background Thalassemia is the most serious and rare genetic blood disorder and requires
regular blood transfusions and lifelong medical care. Indigenous people living in low–and …

Over the past decade, genomic data have contributed to several insights on global human
population histories. These studies have been met both with interest and critically …

Human plasminogen (PLG), the zymogen of the fibrinolytic protease, plasmin, is a
polymorphic protein with two widely distributed codominant alleles, PLG/Asp453 and …

Identification of disease‐causing variants in families with a history of a suspected recessive
disorder is essential for appropriate counseling and reproductive decision making. The …

Discussion Small bowel and colon are commonly involved segments in children with CIPO,
though it can involve any part of the GI tract. Due to its rarity, lack of knowledge regarding the …

Abstract Neurofibromatosis type 1 (NF1) is a multisystemic hereditary disorder associated
with an increased risk of benign and malignant tumor formation predominantly on the skin …