3+ 4/2002 - Společnost pro pojivové tkáně

nant genetics and biochemistry offers
a definitive approach to understaning protein
function in cells. Furthemore, the availability
of the entire genomic sequence has
spawned the development of genome-wide
or system-wide approaches to the analysis
of gene function in yeast. These functional
genomic methods are of great value to yeast
genetics research and also place yeast as
acritical tested for these emerging technologies.
Links between human disease
genes and yeast gene provide immediate
protein functional data and an experimental
paradigm for further analysis of disease
relevant biology. They can also be used to
accelerate the identification of disease
genes. It is important to emphasize that the
link to yeast gene often provides connection
to an entire genetic pathway, a multiprotein
complex, or interacting gene products.These
additional links can be key to an
understanding of disease mechanism or
development of a therapeutic strategy.
The discovery of a relationship
between a human disease gene and a gene
found in yeast is clearly advantageous, but
how can these connections be established
in a systematic fashion? Three general paradigms
have emerged, 1. Human yeast similarity
searching 2. Genome cross referecing
3. Homologe probing. The worm and fly
genome sequences make multi-organismal
approaches for understanding human biology
even more powerful. These organism
provide complementing experimental
approaches and aspects of eukaryotic biology
not approachable in yeast. Given the
unique experimental advantages of the
yeast system, yeast genetics/genomics
approaches will continue to be a crucial
component in medical genetics research
for the foreseable future.
126
CLINICAL GENETICS: THE FUTURE
J. Burn, Newcastle upon Tyne
Genetics has become established in the
popular view as exciting and threatening in
equal measure. Its impact on future medicine
is taken as a fact. Most commentators
fail to distinguish between genetic technologies
which will become incorporated
in to general diagnostics just as blood
groups did in past years, and the application
of genetics to inherited disease.The latter
includes diagnosis, and assistance in
reproductive choice and predictive testing.
As a medical speciality, clinical genetics has
followed two paths. The first involves clinical
geneticists in small numbers acting as
an academic focus with most applications
dispersed to individual specialities.The second,
as seen for example in the UK and the
Netherlands, involves a large cohort of clinical
geneticists supported by genetic nurses
and counsellors acting as a focus for large
scale application of genetic knowledge in
medical practice. Chance, history, religion
and money all play a part in determining
which pathway is followed.This question is
whether they can or should converge and if
not, which will become the dominant
model in the health services of tomorrow.
ORGANIZATION OF GENETIC
SERVICES IN THE REPUBLIC OF CUBA
L. Heredero
LOCOMOTOR SYSTEM vol. 9, 2002, No. 3+4
The Island of Cuba with 11 million
inhabitans, an infant mortality about
7/1000, life expectation in 75 years, with
free national health system based in well
developed primary health care (more than
90 % of population covered by family doctors)
started a National Program for the
Diagnosis and Prevention of Genetic