Sickle cell disease (SCD) is a known inherited hemoglobin disorder featured by the presence of sickle shaped erythrocytes in the blood. It can cause cerebrovascular accident (CVA) in adults and children and is responsible for the majority of the strokes in children. Repeated blood transfusion are often required in an attempt to dilute blood thus reducing the risk of vaso-occlusion and stroke in...

Chorea Gravidarum(CG) Rheumatic disease collagen vascular disease. Autism is a neurodevelopmental disorder characterized by social impairment, communication problems, and repetitive behaviors. Autism and genetic link is still controversial. So far about 5-10% of children with Autism seem to have a genetic link. Some of the genes associated with an autism risk appear to be clustered in a region ...

Globally, end-stage kidney disease (ESKD) is a huge burden on health care systems. The aims of this study were to perform a comprehensive epidemiological and etiological report of ESKD patients commencing RRT in Oman with an emphasis on genetic causes and inherited kidney disease. All newly registered Omani patients with ESKD commencing RRT from 2001 until 2015 (n = 2,922) were analysed using t...

IgA Nephropathy (IgAN) is the most common primary glomerulonephritis worldwide. Over the last years strong evidence suggest the existence of genetic factors in the development and/or progression of IgAN. IgAN does not exhibit classic single-gene Mendelian but rather a complex genetic inheritance pattern. Until now, two basic approaches have been used in genetic studies of IgAN: Genome-Wide link...

Human growth has an estimated heritability of about 80%-90%. Nevertheless, the underlying cause of shortness of stature remains unknown in the majority of individuals. Genome-wide association studies (GWAS) showed that both common single nucleotide polymorphisms and copy number variants (CNVs) contribute to height variation under a polygenic model, although explaining only a small fraction of o...

The report by Stone et al in this issue (available at www.aaojournal.org/article/S0161-6420(17)30460-8/fulltext;) is a timely reminder of the revolution under way in molecular genetic testing for inherited retinal disease (IRD). The new approach to testing involves the use of next-generation sequencing (NGS), a term used to describe a number of different technologies that use a common strategy ...

The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear pore complexes. In recent years, mutations in nuclear-envelope proteins have been shown to cause a surprisingly wide array of inherited diseases. While the mutant proteins are generally expressed in most or all differentiated somatic cells, many mutations cause fairly tissue-specific disorders. Perhaps the mo...

Genomic rearrangements in inherited disease and cancer involve gross alterations of chromosomes or large chromosomal regions and can take the form of deletions, duplications, insertions, inversions or translocations. The characterization of a considerable number of rearrangement breakpoints has now been accomplished at the nucleotide sequence level, thereby providing an invaluable resource for ...