alström angels newsletter september 2013€¦ · organs in five-to 10-years. other doctors call...
TRANSCRIPT
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ANGEL NEWS
You may remember a few months ago when 10-year-old Sarah Murnaghan finally got the lung transplant
she’d been waiting for after her parents sued to give her a better shot at surgery.
Her cystic fibrosis was threatening her life, and her case spurred a debate on how to allocate donor organs.
Lungs and other vital organs for transplant are scarce among children.
Growing organs
What if you could grow a custom-made organ in a lab? It sounds like
science fiction, but just a three-hour drive from the Philadelphia hospi-
tal where Sarah got her transplant, another little girl is benefiting from
just that sort of technology.
Two years ago, Angela Irizarry of Lewisburg, Pa., needed a crucial
blood vessel. Researchers grew her one in a laboratory, using cells from her own bone marrow.
Today the 5-year-old sings, dances, and dreams of becoming a firefighter — and a doctor.
Growing lungs and other organs for transplant is still in the future, but scientists are working toward that goal. In several labs across the
country, scientists are studying how to grow organs from a patient’s own cells to create custom-made implants.
Organs on demand
Here’s the dream scenario: A patient donates cells, either from a biopsy or a simple blood draw. A lab uses those cells and “seeds”
them onto a scaffold that’s shaped like the organ that patient needs. Then, says Dr. Harald Ott of Massachusetts General Hospital, “we
can regenerate an organ that will not be rejected (and can be) grown on demand and transplanted surgically, similar to a donor organ.”
Unfortunately, that won’t happen
anytime soon for complex organs
like lungs or livers. But simpler
body parts are already being
grown and used as researchers
explore the possibilities of the
field.
In some cases growing organs
has even become standard prac-
tice. Surgeons can use a pa-
tient’s own cells to repair carti-
lage in the knee, and burn victims
can be treated with lab-grown
skin.
Continue Page 2
In This Issue
Lab-Grown Organs
Human Mice?
2013 Golf Classic
Through Rose
Colored Glasses
Upcoming Events
The advantage of growing
organs, especially in young
children, is that the implant
can grow along with the
child, so it would not have to
be replaced later.
Alström Angels Newsletter September 2013
Senator Pat Toomey
Speaking on behalf of
Sara Murnaghan on the
Senate floor.
Human ear grown in a laboratory from healthy cells donated from a patient
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Livers, hearts, and kidneys….fresh off the printer!
So far, the lab-grown parts implanted in people have involved fairly simple structures -
basically sheets, tubes, and hollow containers notes Dr. Anthony Atala of Wake Forest
University, whose lab has also made scaffolds for noses and ears. Solid internal organs
like livers, hearts and kidneys are far more complex to make.
His pioneering lab at Wake Forest is using a 3-D printer, similar to an ink-jet printer; it
"prints" different types of cells and the organ scaffold one layer at a time. Instead of
depositing ink, the printer puts down a gel-like biodegradable scaffold plus a mixture of
cells to build an organ layer by layer. However, Atala expects it will take many years
before printed organs find their way into the human body.
100,000 stem cells = endless possibilities
Growing a copy of a patient's organ may not always be possible - for instance, when
the original organ is too damaged by disease. One
solution for such patients may be stem cells. Atala's
team has shown that stem cells can be collected without harming human embryos (eliminating political
controversy) from amniotic fluid in the womb. Researchers can manipulate those cells into becoming
heart, liver, and other organ cells. A bank of 100,000 stem cell samples, Atala says, would have enough
genetic variety to match nearly any patient. Surgeons could order organs to be grown as needed in-
stead of waiting for cadavers that might not be a perfect
match.
Are donor cells the future?
Others look to stem cells from bone marrow or body fat
that could be nudged into becoming the right kinds of cells
for particular organs. In the near future though, organs are
more likely to be grown with donor cells stored in a lab, but
this would still require the organ recipient to take anti-
rejection drugs.
How long until doctors start testing solid organs in people?
Some doctors hope to see human studies on lab-grown
organs in five-to 10-years. Other doctors call this timeframe
very optimistic and think 15-to 20-years is more realistic.
Dr. Anthony Atala holds the "scaffolding" for a
human kidney created by a 3-D printer in a labora-
tory at Wake Forest University in Winston-Salem,
North Carolina.
Top Left: Scaffolding of a human nose.
Side Right: Scaffolding of a human ear.
Both were printed from a 3D printer in a
laboratory at Wake Forest University in N.C.
Because Alström Syndrome
causes multiple organ failure,
many children require life
saving transplants. To date,
Alström children have suc-
cessfully received heart,
lung, liver, kidney, and pan-
creas transplants. Many chil-
dren need more than one
vital organ transplanted dur-
ing their lifetime.
Raffle Tickets $100
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Need Not be Present to Win
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purchase your
tickets
Drawing Oct. 18th
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Golf Classic
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Why is so much medical research
done with mice? And what does it
mean when scientists talk about a
mouse model?
As different as they appear, humans
and mice are surprisingly similar un-
der the hood. We share more than
95% of our genes and get most of the
same diseases, for many of the same
genetic reasons. Because of this,
experimental findings in mice often
correlate to human biology.
In other words, a mouse model with a
specific disease provides a research
"stand-in" for a human patient.
At the Jackson Laboratory in Bar Har-
bor, Maine, scientists conduct experi-
ments in mice that would be impossi-
ble in people. The scientists at the
Jackson Lab are considered experts
in genetically altered mice. In
fact, they provide over 5,000 lines of genetically defined mice to 19,000 laboratories around the world.
Their expertise in experimental genetics is leading to better treatments for cancer, diabetes, Alzheimer's, cardiovascular disease and
many other conditions that undermine human health and longevity including Alström Syndrome.
Humanizing the mouse
Professor Leonard D. Shultz, Ph.D., and his research team spent years engineering a "humanized" mouse. "This humanized mouse
provides insights into living human biology that aren't otherwise possible," Shultz says.
How can a single gene affect multiple systems in the body?
That's a question researchers are asking about the ALMS1 gene. A mutation in ALMS1, discovered at The Jackson Laboratory, caus-
es Alström Syndrome, a profound illness marked by loss of sight and hearing, obesity and type 2 diabetes, liver and kidney function
problems, and other afflictions as well as reduced lifespan.
The exact function of the ALMS1 gene remains unknown, but it's thought to contribute to movement of material within cells and the
movements of cells themselves.
At The Jackson Laboratory, Jürgen Naggert and Patsy Nishina developed Alström Syndrome mice that allows them to study the mys-
terious workings of the disease and, hopefully, find options for treatments and a cure.
Pictured: Carl Henry, the Alström Syndrome Mouse. Carl is named after the doctor who first discovered
Alström Syndrome; Carl Henry Alström. Scientists at the Jackson Laboratory in Bar Harbor, Maine have
genetically engineered mice to “give” them Alström Syndrome. The Lab has created a total of 4
Alström Syndrome mice that they are actively studying in search of treatment options and a cure.
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Alström Syndrome is considered an orphan disease because it is so rare,
that very few people have heard of it.
As a consequence of its rarity, there is very little funding for medical research and
family support for those affected.
You can help change this!
Please join us and become a Guardian Angel for children with Alström Syndrome
by donating $25 each month for research and family support.
You can become a Guardian Angel by visiting our web site
www.alstromangels.com
You can make a difference in the lives of children fighting Alström Syndrome.
Guardian Angels will receive a special lapel pin to signify their gracious commitment, invitations to the exclusive Guardian Angel Night of Honors
dinner, a special gift at the Night of Honors dinner, and recognition in the Angel News newsletter and Alström Angels website.
(May remain anonymous if desired).
It takes a special person to care for such a rare and select group of children. It takes an angel…a guardian angel.
Debra Gillespie
Lynn & Cassie Johnston
Paityn Johnston
Kamryn Turnbow
Karter Turnbow
Kelsey Turnbow
Guardian Angels
Lake Creek Recovery
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Macy has joined
the Alström Angels
Internship Program for the Fall of 2013 as
an assistant event planner. She is earning her degree
in advertising at Texas Tech University. Upon graduat-
ing in May of 2014, Macy plans to do event planning &
management for private companies.
2013 / 2014
Alström Angles Board of Directors
Cassie Johnston - President & Executive Director
Territory Business Manager, Invacare Corporation
Alström Syndrome Parent Advocate
Michelle Brooks, BSN, RN - Vice President
Legal Nurse Consultant
Lynn Johnston - Treasurer
Used Car Director, Benny Boyd Auto Group
Alström Syndrome Parent Advocate
Amy Najjar, MA, OTR - Secretary
Early Childhood Intervention
Tameisha Bolen
Advertising Consultant, KCBD News Channel 11
Independent Distributor, Rodan+Fields Dermatology
Julie Childs
Commercial Realtor, RE/MAX Lubbock
Gina Flores, BS
Licensed Audiology Intern, University Medical Center
Hearing & Balance Center; Physical Medicine and Rehab
Greg Johnston
Special Education Educator, Canyon ISD
Kelly Smith
Autism Parent Advocate
The board of directors is comprised of volunteer community leaders who give of their time, talents, and resources to ensure strategic gov-ernance and oversight, fundraising support, and advisory services that help ensure Alström Angels is operating as efficiently and effectively
as possible.
Sarah joined the
Alström Angels Internship Pro-
gram in July and will continue with us for the Fall of
2013. Sarah is interning as our social media campaign
manager. She is earning her degree in public relations
at Texas Tech University, and plans to specialize in
non-profit PR when she graduates in December 2014.
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"...These rose colored glasses that I'm
looking through, show only the
beauty..."
As the popular John Conlee song from
1978 claimed, we know now that there
is actually truth behind those lyrics!
In 1986, Corning Medical Optics intro-
duced a series of photochromic filter
spectacle lenses. (Special tinted lenses
for glasses.) They decrease light sensitivity and
improve vision in patients with a variety of ocular disorders,
including children suffering from Alström Syndrome.
Blinded By The Light
Children with Alström Syndrome are born vision impaired, eventually losing all
sight by adolescence. The first part of the eyes that deteriorates for Alström chil-
dren are the cones, which allow sighted individuals to see color, fine details, and
allow the eyes to adjust to and see in bright light.
Because the cones of Alström children are deteriorated, their eyes can not filter
light. For these children, brightly lit settings (like being outside in bright sunlight) is
a saturation of intense light everywhere. The light saturation is so bright that they
are literally blinded by the light.
By the age of 13, most children with Alström Syndrome have very little vision left, if any at all. Most are
completely blind, resulting in darkness.
Rockstar RED
Although the red tinted lenses worn by younger Alström children may look like a rockstar
accessory, they actually serve a very important purpose.
The red tint of the lenses help their eyes filter bright lights, which then appear less intense
for the child looking through them. In addition to decreasing light sensitivity, red tinted
lenses also improve visual acuity by providing more contrast in objects being viewed.
Because Alström children do not see any color, they don't notice the red hue that would
be seen by a typical sighted person looking through the red lenses.
Magic Lenses
Tinted lenses in different colors are now being used to help children with
other vision disorders. In certain types of dyslexia that cause words to
appear to float off the page, blue lenses magically make the
words still, allowing the child to view printed text as a typical, sighted
person would see them.
Did you know the
color of your
lenses can change
how you view the
world? Lens
colors have a huge
impact on what our
eyes are able to see
and filter.
Here’s how colored lenses
can help anyone see better:
Yellow Lenses: Provides
greater clarity in fog, haze, and
other low-light conditions and
filters out blue light that can
make focusing difficult.
Blue Lenses: Reduces glare, helps to
see contours, and improves color
perception.
Red Lenses: Enhances visual depth,
reduces eye strain, comforting to the
eyes, and helps adjust contrast.
Green Lenses: Transmits all colors
evenly, dims glare and brightening
shadows.
Pictured right: Bryce, 4-years old, Lubbock,
Texas. Diagnosed with Alström Syndrome.
Bryce wears red tinted lenses.
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About Alström Syndrome
Alström Syndrome is one of the rarest of rare diseases. Worldwide there have only been 800 cases of the Syndrome documented in
medical history.
Alström Syndrome is caused by a gene
mutation that affects children by causing:
Complete blindness
Deafness
Type 2 diabetes
Dilated cardiomyopathy & congestive heart failure
Chronic respiratory infections & pneumonia leading to COPD
Kidney & liver failure
It is one of the most brutal diseases there is, as it touches every organ in the body. There
is no treatment or cure for Alström Syndrome, and you can not stop the medical
complications it causes.
Contact Us Phone: (806) 786-4903
[email protected] www.alstromangels.com
3807 106th Street
Lubbock, Texas 79423
PLACE STAMP HERE
Articles and editing by Cassie Johnston, Haley Howey, Macy
Pruitt, Sarah Beaton and Lynn Johnston. Drop by drop we make a lake
World Rare Disease Day
More details to come!
Your help will
change the world
for children fighting
Alström Syndrome
2nd Annual Alström Angels Benefit Dinner
Details coming soon!