Diagnosis and management of neurofibromatosis type 1
Korf BR.
Partners Center for Human Genetics, Harvard Medical School,
77 Avenue Louis Pasteur,
Suite 642, Boston, MA 02115, USA.
Curr Neurol Neurosci Rep. 2001 Mar;1(2):162-7.


Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder whose major feature is the occurrence of multiple neurofibromas, which are benign tumors of the nerve sheath. It affects an estimated one in 3000 to 4000 individuals. In addition to neurofibromas, there are many other clinical manifestations, including malignant tumors such as gliomas or malignant peripheral nerve sheath tumors, and nontumor effects such as skeletal dysplasia and learning disability. Diagnosis is established on the basis of clinical criteria. Molecular genetic testing is feasible, but the large size of the gene and wide range of pathogenic mutations have so far impeded the development of a clinical diagnostic test. Insights into pathogenesis have followed from identification of the NF1 gene and the development of animal models. The major function of the gene product appears to be regulation of the ras protein. Tumors are believed to arise by the loss of function of the NF1 protein, suggesting that NF1 behaves as a tumor suppressor gene. Heterozygous effects on some cell types are also likely, however. The role of ras in the pathogenesis of tumors in NF1 has suggested an approach to treatment using ras inhibitors, some of which are likely to begin in clinical trials in NF1 patients in the near future.
'Artificial' evolution
Genetic enhancement
Germline genetic engineering
Congenital insensitivity to pain
Mood genes and human nature
Preimplantation genetic diagnosis
A life without pain? Hedonists take note'
'The Principle of Procreative Beneficience'
Gene therapy and performance enhancement
Transhumanism (H+): toward a Brave New World?


and further reading

BLTC Research
Utopian Surgery?
The Good Drug Guide
The Abolitionist Project
The Hedonistic Imperative
The Reproductive Revolution
MDMA: Utopian Pharmacology
Critique of Huxley's Brave New World