PPT About The Clinic for Special Children

tastelesscowcreekBiotechnology

Oct 4, 2013 (3 years and 11 months ago)

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The Clinic for Special Children

Where compassion,
care, and
bioinformatics
result in cutting
edge translational
medicine

Nestled amid the Amish and Mennonite farms in the bucolic countryside of
Lancaster County,
Pennsylvania is The Clinic for Special
Children,
a cutting
edge medical clinic where staff use a unique combination of medicine and
bioinformatics to provide comprehensive medical care for children with
chronic, complex medical problems due to inherited disorders.


1.
Make medical care for special
children accessible, affordable, and
culturally acceptable.

2.
Identify genetic causes of childhood
disability and death within Plain
communities.

3.
Use state
-
of
-
the
-
art technologies to
improve the accuracy and economy
of diagnosis.

4.
Use pre
-
symptomatic diagnosis and
preventative therapy to improve
child health and reduce medical
costs.



The clinic’s work has four
aims:

Who are Plain people?


Christian groups who practice simple living, are
generally separated from typical modern life, and
wear plain dress


Includes Amish, Mennonite, and others


Have a utilitarian approach

to modern technology


Ordnung

-

unwritten code
of

behavior, including clothing,

vehicles
,
and
the use
of

technology


varies from

congregation to congregation


Why do Plain people have high rates of
rare genetic disorders?


Founder effect


a new population, formed from only a
limited number of individuals, can result in a loss of
genetic variation.


Young people must marry within their religion


Not a high rate of entry into the religious groups from
outside


Population from which to choose a spouse is limited,
and therefore the gene pool is limited.


There is an increased chance that two parents will
carry recessive alleles (be carriers) that will result in
autosomal recessive disorders in their children.

What are the impacts of genetic
disorders?


Single gene disorders give rise to disease by
disrupting critical biological processes, such as
metabolic
ada
p
tations
to fasting and illness, cell
volume control, brain amino acid homeostasis,
and the regulation of brain growth and
development.


These
processes change dynamically with age, and are
influenced by nutritional and
environmental
exposures.


Some disorders are fatal, while many others are
treatable.


What are some of the disorders
treated at the Clinic?


The Clinic screens and treats children for 80
genetic disorders, including:


Maple Syrup Urine Disease


the Clinic developed
a treatment for this previously fatal disorder


Glutaric

aciduria



Crigler
-
Najjar

syndrome


Medium
-
chain acyl
-
CoA dehydrogenase
deficiency


And many, many more!

What is the Clinic’s approach to
medicine?


The Clinic combines traditional medical
approaches with cutting age genetics, genomics,
and bioinformatics


The Clinic has a research laboratory as part of it’s
building, making genetic screening easier and
cheaper.


Real
-
time PCR


Microarray


Bioinformatics databases: OMIM, BLAST and others


What is a clinical scientist?


A clinical scientist is a scientist who
works as a physician.


Clinical scientists develop a
fundamentally different understanding
of genetic disorders than those who
study disease mechanisms in laboratory
animals or cell cultures.


A person who cares for many patients with
the same genetic disorder over long periods
of time can better understand the complex
interplay among genes, environment,
physiology, and disease.


It is often through the daily work of a
physician caring for a patient that new
opportunities for treatment are realized.


“Special children are not just interesting medical problems,
subjects of grants and research. Nor should they be called
burdens to their families and communities. They are children
who need our help, and if we allow them to, they will teach us
compassion. They are children who need our help, and if we
allow them to, they will teach us love. If we come to know these
children as we should, they will make us better scientists, better
physicians, and thoughtful people.”

-
-

D. Holmes Morton,
Through My Window

(
Pediatrics 1994;6: 785).