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

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.

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Golf Classic

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

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.

"...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.

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

info@alstromangels.com 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!