Executive summary The past six decades have seen remarkable improvements in health
outcomes for people with cystic fibrosis, which was once a fatal disease of infants and young …

Retinal gene supplementation therapy such as the first approved one, voretigene
neparvovec, delivers a functioning copy of the missing gene enabling the protein …

Approximately 1.1 billion people currently live in countries where consanguineous
marriages are customary, and among them one in every three marriages is between …

We estimated the genome-wide contribution of recessive coding variation in 6040 families
from the Deciphering Developmental Disorders study. The proportion of cases attributable to …

In their desperate quest for conception, thousands of infertile couples from around the world
travel to the global in vitro fertilization (IVF) hub of Dubai. In Cosmopolitan Conceptions …

Background Patients with transfusion-dependent thalassemia (TDT) require lifelong blood
transfusions and iron chelation therapy. Thus, patients afflicted with TDT often have to …

The insect excretory system contains two organ systems acting in concert: the Malpighian
tubules and the hindgut perform essential roles in excretion and ionic and osmotic …

In order to successfully translate the scientific models of genetic testing and
pharmacogenomics into clinical practice, empowering healthcare workers with the right …

Saudi Arabia has a population of 27.1 million. Prevalence of many autosomal recessive
disorders is higher than in other known populations. This is attributable to the high rate of …

Autosomal recessive microcephaly or microcephaly primary hereditary (MCPH) is a
genetically heterogeneous neurodevelopmental disorder characterized by a reduction in …