Werner's Syndrome Patients

Sydney Shall bafa1 at central.sussex.ac.uk
Thu May 27 04:28:08 EST 1993


	I am working on the cell and molecular biology of a human
genetic condition called Werner's Syndrome.  I need assistance in this
work.  Basically, I am looking for patients with this condition, because
they are relatively rare.

	Werner's Syndrome is of course, a human progeroid (premature
ageing) syndrome due to an autosomal recessive mutation.  Werner's
Syndrome is characterised by short stature, a hoarse high-pitched voice,
juvenile cataracts, premature greying of the hair, diabetes,
atherosclerosis, neoplasms and marked skin changes.  We are very
interested in this Syndrome as a partial model of premature human
ageing.  It seems that the frequency of this human genetic disease is
about 2 to 20 affected individuals per million population, but is
particularly frequently associated with cousin marriages, which are not
uncommon in certain restricted areas.  We observe that this Syndrome is
often presented to dermatologists.  We are anxious to identify as many
patients as possible in Europe.  All patients identified will be
(anonymously) added both to a European and to an International Registry,
after both the patient and the attending Physician have given
permisssion.  If anyone would like further information on the diagnostic
criteria for Werner's Syndrome, they should please contact me.  If
anyone in the ageing research field thinks they may have seen or heard
of any patients with progeroid conditions, I would urge them to contact
me immediately.  Of course, I am aware of the progeroid cell lines held
by the ATCC, but if anyone would be prepared to share cell strains or
lines from additional progeroid patients, I would be deeply grateful.

		My address is:

			Professor Sydney SHALL, M.B. B.Ch. M.Sc. Ph.D.
			Cell and Molecular Biology Laboratory,
			Biology Building,
			University of Sussex,
			East Sussex, BN1 9QG,

			Tel: +

			Fax: +




Sydney SHALL,
Laboratory of Cell and Molecular Biology,
Biology Building,
University of Sussex,
East Sussex BN1 9QG,

Telephone: +

FAX: +


	Janet:		BAFA1 at uk.ac.sussex.central

	Elsewhere:	BAFA1 at central.sussex.ac.uk

	EARN/BITNET:	BAFA1%sussex.central at ukacrl



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