Recent Advances: Medical genetics

Recent advances in medical genetics.

Recent Advances in Stroke Genetics

Stroke is a complex, polygenic, and multi-factorial neurological disorder caused by a combination of environmental, vascular and genetic factors [1]. Despite new developments in the treatment and prevention, stroke accounts for the primary cause of adult disability, the second leading cause of dementia and the third leading cause of mortality in most of the developed countries [2], [3]. In the ...

Recent advances in asthma genetics

There are over 100 genes that have been reported to be associated with asthma or related phenotypes. In 2006-2007 alone there were 53 novel candidate gene associations reported in the literature. Replication of genetic associations and demonstration of a functional mechanism for the associated variants are needed to confirm an asthma susceptibility gene. For most of the candidate genes there is...

Genetics of systemic sclerosis: recent advances

PURPOSE OF REVIEW Large-scale and follow-up genetic association studies in systemic sclerosis (SSc) have implicated over 40 regions in disease risk, 15 of which with robust associations. Nevertheless, the causal variants and the functional mechanisms underlying the genetic associations remain elusive, and the reasons for the higher disease burden in African Americans unknown. Incorporating tool...

Recent advances in ophthalmic genetics. Genetic counselling.

Considerable advances have been made in our knowledge of human genetics since Sir Stewart wrote the section on "Heredity" in his "System of Ophthalmology" (Duke-Elder, I962) just over io years ago. Many of these advances have influenced our management of patients with genetically-determined disorders and, in particular, have improved our accuracy in calculating the risks ofrecurrence ofheredita...