Sarah Moris and her mother Pat, who’s father/husband recently passed away with CADASIL, has set up
a memorial fund for her father. Some brain tissue was also donated to the Newcastle Brain Tissue Resource
to further the research into CADASIL.

Her employer, Pfizer, has kindly agreed to match all money raised up to a value of $15,000
This is a tremendous opportunity for us all to contribute some money, and have it doubled in the cause of
CADASIL Research. If we all contribute a little, we could raise over $30,000.

This newsletter goes out to over 100 registered members and their families. If we all donate a minimum of $100 each, we will raise $10,000 and be well on the way to reaching the target of $15,000.

Dig deep everyone, we need to take advantage of this generous offer by Pfizer!
Please send your donations payable to:
Miss Sarah Moris, c/o Mrs Pat Ruedebusch, 2320 Springville Drive, Plover, WI, 54467, USA

Miodrag Stojkovic
The following is an abstract of the current paper by Miodrag Stojkovic and his team
Institute of Human Genetics, University of Newcastle, Newcastle upon TyneNE1 3BZ Newcastle Fertility Centre at Life, NHS, Newcastle upon Tyne NE1 4EP

Abstract:
Human embryonic stem (hES) cells are pluripotent cells derived from the inner cell mass cells of blastocysts with the potential to maintain an undifferentiated state indefinitely. Fully characterised hES cell lines express typical stem cell markers, possess high levels of telomerase activity, show normal karyotype and have the potential to differentiate into numerous cell types under in vitro and in vivo conditions. Therefore, hES cells are potentially valuable for the development of cell transplantation therapies for the treatment of various human diseases. However, there are a number of factors which may limit the medical application of hES cells:
(a) continuous culture of hES cells in an undifferentiated state requires the presence of feeder layers and animal-based ingredients which incurs a risk of crosstransfer of pathogens;
(b) hES cells demonstrate high genomic instability and non-predictable differentiation after long-term growth; and
(c) differentiated hES cells express molecules which could cause immune rejection. In this review we sunnarise recent progress in the derivation and growth of undifferentiated hES cells and their differentiated progeny, and the problems associated with these techniques. We also examine the potential use of the therapeutic cloning technique to derive isogenic hES cells.
Reproduction (2004) 128 259-267

The full report is available by clicking here.

Pre-Implantation Genetic Diagnosis (PGD) is an extension of prenatal diagnosis, using IVF technology to enable couples at high risk of passing a serious genetic disorder to their offspring to avoid an affected pregnancy. The story of a CADASIL patient who took this action to ensure his children did not inherit his condition is listed below.
We have researched the possibility of having this procedure being made available on the National Health Service, and believe that it is possible, though quite a lengthy undertaking.
The full NHS guidelines are listed below and available for download. If anyone would like assistance in pursuing this option, please feel free to contact us, and we will be happy to help in any way possible.

(PDG) – Guiding Principles for Commissioners of NHS Services

David Brinson has CADASIL, a genetic condition that causes him to have migraine headaches and mini-strokes. The condition, unfortunately, also has a 50-50 chance of being passed on to his children. Instead of playing the odds, however, David and Toni Brinson turned to IVF (in-vitro fertilization) and genetic testing to help eliminate the disorder from their family tree.

Through an Internet search, Toni Brinson learned about pre-implantation genetic diagnosis, or PGD, a test that can detect a single-gene defect in an embryo before it is implanted into the uterus during in vitro fertilization. Although PGD had never been used to test embryos for CADASIL, geneticists at Genesis Genetics Institute in Detroit were able to create a specific marker to identify David Brinson's abnormality. The healthy embryos were identified, and the rest destroyed.

Although the Brinsons expect some people to question the ethics of their decision, they look at it as practicing "preventive medicine" by avoiding the potentially high health-care costs of caring for a child with health problems. Their first child is expected to arrive the first week of August.