The advances in general genetic research are occurring at an astonishing rate and will hopefully yield huge improvements in pregnant and post-partum care and overall survival of the mother in the coming decades. The pace of advancement in genetic research is accelerating due to a phenomenon called the “Carlson Curve”. In the next decade, the medical community will be able to sequence a person’s DNA within seconds, and the cost of doing so will continue to fall (has fallen by over 95% in the last 15 years!)
We believe that genetics may play a huge role in our quest to eliminate maternal deaths. In our initial discussions with leading physicians in various disciplines we believe there is a possibility that genetics may play a central role in what we consider to be “congenital” conditions today.
We also believe that the greater scientific community, both academic and commercial, will continue to accelerate the pace of development in terms of availability of genetic testing and gene therapy technologies. Sabrina’s Foundation believes that our best investment, when we invest in genetic research, is to identify and catalogue the relevant sequences.
Ehlers-Danlos Syndrome Type IV is an autosomal dominant defect in the type-III collagen synthesis, affecting approximately 1 in 100,000 individuals, and producing a life expectancy of under 50 years. Tendancy for large vessel ruptures and aneurisyms and is vastly underdiagnosed (generally found during autopsy), and pregnancy can be life-threatening.
National Center for Biotechnology Information
Wikipedia Information On Ehlers-Danlos Syndrome
Factor V Leiden is a genetic mutation of the F5 gene that results in an increased risk of thombophilia and can result in miscarriage and other complications during pregnancy. It is known that the caucasian populations of the USA and EU have between a 3 percent and 8 percent mutation rate.
NIH Factor V Leiden Information
Wikipedia Information On Factor V Leiden
Factor V Leiden is a genetic mutation of the F5 gene that results in an increased risk of thombophilia and can result in miscarriage and other complications during pregnancy. It is known that the caucasian populations of the USA and EU have between a 3 percent and 8 percent mutation rate.
LOEYS-DIETZ SYNDROME, TYPE 1A; LDS1A
Wikipedia Entry For Loeys-Dietz Syndrome
Marfan Syndrome is a genetic mutation of the FBN1 gene that that encodes fibrillin-1, a connective protein. Pregnancy produces a substantial risk of aortic dissection, and can be lethal if left undiagnosed.