Following the first identification of a disease-causing mutation in dogs in 1989 and the more recent completion of canine and feline genome sequences, much progress has been made in the molecular characterization of hereditary diseases in dogs and cats. To increase access to information on diagnosing hereditary diseases in dogs and cats, a web application has been developed to collect, organize...

An open question in human genetics is what underlies the tissue-specific manifestation of hereditary diseases, which are caused by genomic aberrations that are present in cells across the human body. Here we analyzed this phenomenon for over 300 hereditary diseases by using comparative network analysis. We created an extensive resource of protein expression and interactions in 16 main human tis...

Background Degenerative retinal diseases, including age related macular degeneration, glaucoma, and hereditary retinal dystrophies are major causes of blindness. The principal defect in these diseases is cell loss which is amenable to both cell based neuroprotective and neuroregenerative therapies. To briefly review the lines of research and potential candidates for cell based therapies among ...

β-thalassemia is one of the most common hereditary diseases in Egypt. The leading causes renal dysfunction thalassemic patients include chronic anemia, iron overload from repeated blood transfusions, and kidney-induced damage use chelators.

Hereditary Angioedema is a dominantly inherited disease. Routine screening of autoantibodies (AAB) is not recommended for individuals with Hereditary Angioedema; however, prevalence of these antibodies in Hereditary Angioedema patients is not well documented. We aim to determine the prevalence of AAB so that individuals at risk of developing autoimmune diseases can be identified. Fifteen patien...

The dog genome organization was extensively studied in the last ten years. The most important achievements are the well-developed marker genome maps, including over 3200 marker loci, and a survey of the DNA genome sequence. This knowledge, along with the most advanced map of the human genome, turned out to be very useful in comparative genomic studies. On the one hand, it has promoted the devel...

muscle diseases constitute a large variety of both acquired and hereditary disorders that can affect muscle structure, metabolism, or the function of the muscle channel. a successful clinical approach to a patient with a suspected myopathy is based on a thorough medical history and neurological examination. associated clinical symptoms such as myoglobinuria, contractures, myotonia, cardiac dise...

Genetic testing uses advanced laboratory techniques to identify protein alterations, certain metabolites, chromosomes, or nucleic acids by which a genotype is determined or inferred. These tests provide insights into the molecular basis and physiopathology of genetic diseases, information which is critical for prevention, treatment and genetic counseling. Initiated in 1982, Cuba's National Prog...