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This
newly established research program was developed in response
to the great expansion and renewed attention these disorders
have experienced since the advent of molecular genetics and
the patch clamp, two major tools used in combination at the
Laboratories. Diseases of interest include epilepsy, arrhythmia,
genetic myopathies and neurotoxicity. To the well-established
tradition of clinical study and discovery of excitability
disorders of muscle, nerve and brain at the Neurological Institute,
the Laboratories add the expertise of scientists interested
in ion channel structure, function and pharmacological modification.
Our research is based on the predicate that disease represents
the translation of perturbations of molecular function to
the living organism and that such functional perturbations
are the consequence of molecular structural abnormalities.
In the particular case of excitability diseases, a given structural
abnormality alters the transduction of free electrical or
chemical energy into a molecular conformational change that
operates a signaling relay (i.e. an ion channel gate or a
receptor with enzymatic capabilities). The Laboratories are
equipped with a voltage clamp suitable for the study of oocytes
injected with RNA coding for ion channel proteins, and with
a self-standing patch clamp unit enclosed in isolating glass
that contains a computerized micropipette puller, a microforge,
a microinjector and a vibration table that shelters a Nikon
TE-300 fluorescent microscope stage where experiments take
place. Molecular genetic facilities are also integral part
of this program, including areas for work with radioactive
tracers and RNA and a cell culture and banking facility.
The computing capabilities include several workstations containing
Pentium III and IV processors linked to a Neurology internal
network and to the Internet.The clinical aspect of this research
program benefits from the availability of the Irving Clinical
Research Center, an NIH-funded investigational resource where
patients and their families are studied and followed. Involvement
of basic and clinical researchers in group discussions of
patient assessment and management is strongly encouraged,
in order to cross-fertilize participating scientists and clinicians
and to nurture the exchange of ideas from all traditional
disciplines. Opportunities for interaction with other groups
interested in excitability from molecular, cellular, systems
or cognitive perspectives are emphasized.
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