In a first of its kind project in India, funded by the European Union,
Kokilaben Dhirubhai Ambani Hospital doctors Mohit Bhatt and Annu
Aggarwal have just identified three new mutations or genetic defects of
Wilson disease (WD). They are collaborating with Germany and Greece to
study the genetic cause of Wilson disease, and understand the its
mechanism.
DNA codes in a person provides with the genetic
information of his life and is present in all living things. Finding the
defect can help doctors understand why the disease has developed and
what we can do to treat the disease.
Dr Bhatt, Dr Aggarwal and
their colleagues have identified three new defects in DNA of their
patients with Wilson disease. This breakthrough is helping them study
why the disease has developed.
The next step of their research is
to study what medicine will help in treatment of the genetic defect.
There has been some exciting results wherein they have been able to
predict in the laboratory if a particular Wilson disease medicine will
help a particular patient or not. If these findings are confirmed then
it will be possible to decide which medicine to be administered to the
patients just on the results of the blood test of a Wilson disease
patients.
WD is an inherited disorder leading to excessive
copper deposition primarily in liver and brain. Patients develop
jaundice, memory and behavioural problems, movement disorders and joint
pains. The disease starts within the first twenty years of life and can
be fatal if let untreated.
However, with timely diagnosis and
treatment, patients with WD can lead a normal life. Even people with
severe disability can improve and resume their school or work. Its
treatment involves copper depletion (or chealtion) and is required to be
continued lifelong with close monitoring.
Unfortunately, there
is little understanding of the disease even among specialists. Dr Bhatt
and Dr Aggarwal have shown that a patient with WD on an average visits
at least 11 doctors including liver specialists, neurologists,
paediatricians, haematologists and other specialists before the disease
is diagnosed. In fact, it is not unusual for families to have lost two
to three childrens' before WD is diagnosed in the youngest child.
Keeping
pace with the ongoing scientific revolution in neurological diseases
and their treatment, Kokilaben Dhirubhai Ambani Hospital and Medical
Research Institute, Mumbai, recently established a Centre for Brain and
Nervous System.
The centre is the first of its kind department in
the country where each consultant focuses on a particular area of
neurology, like movement disorders, Alzheimer and memory related
diseases, stroke, epilepsy and paediatric neurology. This model of
subspecialist and super-specialist neurology is complimented by state of
the art infrastructure and cutting edge technology to provide
comprehensive neurology services at par with the best centres in the
world.
Currently the hospital helps make a difference in the
lives of over 4,000 patients with neurological disorders and their
families every year, with the number growing over time.
Source: Pharmabiz
