Thanks to the generosity of Theresa
Patnode Santmann of Babylon,
Winthrop-University Hospital has
launched an innovative research program
aimed at the development of
therapies to halt the progression of
Amyotrophic Lateral Sclerosis
(ALS). Also known as Lou
Gehrig’s disease, so named for
the New York Yankees baseball
legend who was diagnosed with
the condition in 1939, ALS is a
progressive neurological disease
that attacks nerve cells
responsible for controlling
voluntary muscle movement.
In ALS, these motor neurons,
which carry messages from
the brain to the muscles in the
hands, feet, arms, legs and
more, deteriorate and die. As
they do, so too do the muscles
with which they communicate,
which atrophy from lack of
movement.
(L.-R.) Louis Ragolia, PhD, Director of Applied Research at Winthrop;
Theresa Patnode Santmann; and Thomas M. Jeitner, PhD, Lead
Research Scientist.
With an average age of
onset between 40 and 60 years old, as
many as 20,000 to 30,000 Americans
have ALS, and more than 5,000 people
in the United States are newly
diagnosed with the disease each year.
While Lou Gehrig was diagnosed at
the age of 36 and lived only two years
following diagnosis, Santmann’s husband
John was diagnosed with ALS
when he was just 30 and he lived a
remarkable 18 years longer.
John Santmann was studying for
his PhD in Clinical Psychology at the
time; Theresa was pregnant with
their second child. As the ALS stole
John’s ability to function, Theresa
became sole provider – and caretaker
– for the whole family.
Life with ALS is not easy. Early
numbness in the hands and feet progresses
– often very rapidly – to loss
of strength and the inability to move
the arms, legs, and other parts of the
body. When the muscles in the
diaphragm and chest become affected,
patients lose the ability to breathe
independently. Most people with ALS
die from respiratory failure, usually
within three to five years from the
onset of symptoms, and only about 10
percent of ALS patients survive for
10 or more years.
While Theresa’s husband surpassed
all expectations with his survival of
almost two decades after diagnosis, the
disease places extraordinary stress on
the patient and family. In order to continue
to care for her husband, who soon
came to require full-time attention,
Theresa did something that many
thought was impossible. She secured
the funding, property and permits to
create an adult home where she could
take care of her husband, her family
and others while making a living in the
process. Ambitious and resourceful,
Theresa has since earned a degree as
a Registered Nurse and developed her
home-grown family business into a
home-like 69-bed nursing and rehabilitation
facility and opened a second
location – a 160-bed nursing home,
both in Suffolk County.
Recently, Theresa made the decision
to begin funding ALS research. She
explored many existing ALS research
programs but when she heard about the
proposed research initiative at Winthrop
she was most impressed. And
when Louis Ragolia, PhD,
Director of Applied Research
at Winthrop, heard that
Santmann planned to make
a significant contribution to
establish an ALS research
program at the Hospital, he
was thrilled.
“Most research funding
for ALS – like many other
diseases – goes to established
research programs that follow
a popular line of thinking,” said
Dr. Ragolia recently. “Here at
Winthrop, we’ve wanted to
take a new approach, a fresh
look, at how we might best
help patients with this debilitating
disease.”
And the private funding from
Theresa Santmann provided just the
support they needed. Thanks to her
generous donation and her commitment
to future funding, Winthrop
launched a national search for a scientist
with the necessary experience
and background – but an innovative
new approach – to the problem of
nerve degeneration to lead the new
ALS research initiative at Winthrop.
Lead Research Scientist Thomas
M. Jeitner, PhD, was recruited to
Winthrop from the Medical College of
Wisconsin in Milwaukee, where he
had conducted extensive studies on
the role of enzymes called transglutaminases
in neurodegeneration.
“I came to Winthrop because here
I was offered the unique opportunity to
investigate ALS with a new approach
informed by my 15 years of research
on nerve death. Nerves die by similar
mechanisms, which have been extensively
studied in Huntington’s disease
and Parkinson’s disease, but some of
these mechanisms have not yet been
studied in ALS. We plan to study them
here at Winthrop, essentially ‘piggy
backing’ on the very exciting developments
in the treatment of these other
diseases,” said Dr. Jeitner. “The beauty
of these studies is that we can build
on existing information to develop
novel therapeutic strategies for ALS.”
Dr. Jeitner’s experience and
research focus are providing a fresh
and insightful approach to the problem
of ALS and are an excellent
complement to the ongoing research
of Dr. Ragolia, who has been active in
molecular biology and biochemistry
research for more than 15 years.
Dr. Jeitner’s research to date has
focused in part on a type of abnormal
“clotting reaction” that sometimes
takes place in motor neurons, which
results in the formation of tangled
protein fibers that interfere with the
nerve cells’ function and viability.
Dr. Ragolia has studied, among other
things, a unique form of a naturally
occurring enzyme that is found in the
cerebrospinal fluid of ALS patients.
Together, Dr. Jeitner and Dr.
Ragolia are assessing the characteristics
of and changes in nerve cells in
ALS – and potential ways of halting
the deterioration of these cells.
These studies will range from fundamental
investigations of biochemical
events that cause ALS to the manifestation
of these changes in cells and
tissues. In addition, the researchers
will be testing various pharmaceuticals
as potential treatments for ALS.
There are currently no drugs
available to effectively treat this devastating
disease. Dr. Jeitner and Dr.
Ragolia will test medications that have
already been approved by the FDA for
other purposes – and which hold
promise for treatment of ALS – in
mice that have a mouse version of
ALS. Once the scientists achieve a
successful model of ALS treatment in
mice, human trials in ALS patients
will be the next step. The researchers
are hopeful that this could occur within
the next few years.
“I looked at a number of ALS
research programs,” said Theresa
Santmann recently. “But when I heard
about the innovative and very promising
approach being undertaken at Winthrop
I was convinced that this was the
research program I wanted to support.”
“This private grant has provided a
wonderful opportunity for us to secure
state-of-the-art equipment to tackle
the problem of ALS in a truly unique
and efficacious manner,” said Dr.
Jeitner. “We realize that patients with
ALS and their families are desperately
seeking relief from this disease, and
we are extremely motivated by that.”
“We are deeply committed to the
development of new and effective
therapies for ALS,” continued Dr.
Ragolia, “and we feel strongly that
between the outstanding funding provided
by Theresa Santmann and the
staunch support of Winthrop’s administration,
we are well-positioned to
move forward with this groundbreaking
research initiative.”
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Vol. 19, No. 3
Fall 2009
Back to Publications
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