Team CdLS runners featured in newspaper articles

Click on the links below to read articles about a mom and a sister running in the Chicago Marathon:

Lake County Journal | Big sis runs marathon for sibling.

Uphill battle: Marathon runner takes to pavement for good cause » Evansville Courier & Press.

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CdLS Researcher’s Work with Fruit Flies Creates Buzz


(From Saint Louis University’s web site)

Dorsett’s Work with Fruit Flies Creates Buzz: Biochemist Credits Lab Team Members for Dedication to Research

Dale Dorsett, Ph.D., a professor in the department of biochemistry and molecular biology, received an award for his research on a genetic syndrome from a national foundation.

The award recognizes an individual’s significant medical or scientific contributions toward understanding Cornelia de Lange Syndrome and improving the lives of those affected by it.

“The award really belongs to the people in my lab who have worked so hard over the past 10 years or so,” Dorsett said.

“It’s very exciting to be recognized for our work with fruit flies by a family organization dedicated to a human genetic syndrome. It definitely motivates us to do more. Virtually all scientists who work with fruit flies believe their work will eventually have direct implications for human health, but it’s uncommon for it to become so directly relevant within a few years of the initial discoveries.”

The second person to receive the recognition, Dorsett was chosen because his work with Drosophila (fruit flies) helps explain how and why Cornelia de Lange Syndrome happens. His work led to the identification of the NIPBL gene in Drosophila in 1999 and its role in development before it was discovered as the first Cornelia de Lange Syndrome gene in 2004.

Dorsett’s lab uses the molecular genetics and genomics of fruit flies to understand how chromosome structure controls gene expression during development. His lab’s work has shed light on the molecular mechanisms of Cornelia de Lange Syndrome, which causes multiple developmental delays in humans, including slow growth, intellectual disabilities and various structural birth defects.

Often unrecognized, Cornelia de Lange Syndrome is a genetic syndrome that occurs in about 1 in 10,000 births. An estimated 20,000 people in the U.S. have Cornelia de Lange Syndrome but remain undiagnosed and/or without support services.

Although individuals with Cornelia de Lange Syndrome range from mildly to severely affected, most have similar physical characteristics: small size, hands and feet; thin eyebrows that meet in the middle; long eyelashes; upturned nose; and thin, downturned lips.

Some individuals have problems with their limbs such as missing fingers or arms and partial joining of the toes. Common medical problems include gastroesophageal reflux, bowel obstruction, hearing loss and congenital heart defects.

Created in 2008, the award is inspired by the foundation’s former medical director, Laird Jackson, M.D., who began his involvement with the foundation more than three decades ago, and continues to remain active in research and clinical work.

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New program educates doctors, nurses about CdLS

We’ve launched a new outreach program aimed at educating medical professionals about CdLS. The program includes a postcard mailing to 75,000 neonatal/OB nurses, pediatric nurses/nurse practitioners and pediatricians from across the country. In addition to educating recipients about CdLS, the postcard (pictured) provides details on our new CdLS Diagnostic Criteria Checklist notepad, provided free to anyone in the medical field who requests it. The checklist can help professionals rule in or rule out a clinical diagnosis of CdLS.

The program–funded by the Centers for Disease Control and the American Legion Child Welfare Foundation–not only strives to put CdLS on the radar of medical professionals, but also to ensure accurate and early diagnosis of the syndrome.

If you know a doctor of nurse who would be interested in receiving a free notepad, you can direct him/her to our request form at http://www.cdlsusa.org/checklist.shtml.

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Conference 2010 Recap

It was an amazing few days – and mom Sandi captured it perfectly in this video. Enjoy.

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Team CdLS names Duke City Marathon ambassador

Five-year-old Savannah Fernandez is the 2010 Team CdLS Ambassador for the Duke City Marathon, October 17 in Albuquerque. Savannah will be cheering on 19 Team CdLS members, including her father, Dee. “Running in the Duke City Marathon is something new for Dee, but he is really excited to reach his self goals, and to run in support of the CdLS Foundation,” says Alicia Fernandez, Savannah’s mom.

Savannah was diagnosed with CdLS at 14 months old. When she was born she was not speaking or babbling, she was very small, and had a lot of stomach problems, according to Alicia. “Even though Savannah doesn’t necessarily know what it means to be an ambassador, I think this experience will shine a special light on her, which is very exciting for our family.”

“The CdLS Foundation has helped our family so much with finding information, helping us to provide better care for Savannah, and giving us the emotional support that we needed. Through the Duke City Marathon our family can help educate people about CdLS, and help raise money for the Foundation.”

To learn more about Team CdLS go to http://www.cdlsusa.com/teamcdls/teamcdls_2010_events.shtml.

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Bikers in the Twin Cities hit the highway for CdLS

The first-ever Motorcycle Ride for Cornelia de Lange Syndrome (CdLS) is Saturday, June 12, starting at Hitching Post MotorSports in Hopkins, MN. The event was organized by three area families with the hopes of raising $5,000.

Motorcycle ride organizer Dave Viland is grandfather to five-year-old Audrey, who has CdLS. Dave is a vice president of the CdLS Foundation’s board of directors, and all money benefits the Foundation. “Right after we found out about the CdLS Foundation, my wife and I decided that we wanted to be a part of it. When the previous director recognized my background in healthcare and asked me to join the board, I knew that I had to for my daughter and for Audrey,” says Dave.

Dave says he was inspired to start a fundraising event involving a motorcycle ride because he is a biker himself, and he wanted to start a unique event that would bring money to the Foundation. The Watczak and Drach families stepped up to help. Both families have children with the syndrome. “The major resources of revenue for the CdLS Foundation are from donations and fundraising activities. Being a biker myself, I knew motorcyclists do benefit rides all the time, so “why not?” ”

“We want to develop a template for this event for other regions of the country. We hope other bikers will see what we’ve done and want to start a CdLS benefit ride near them. If we can get motorcyclists around the country to get involved, people will be more aware of what CdLS is and want to help as well.”
The motorcycle event begins at 9:30 a.m. with registration and a continental breakfast, followed by the start of the motorcycle ride at 10:30 a.m. There is a mid-point stop and lunch break at 12 p.m. at the Lake Ridge Care and Rehab Center in Buffalo. The ride ends back at Hitching Post Motorsports at 2 p.m., where there will be an awards ceremony, a 50/50 drawing, poker run, and the chance to win prizes.

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Hoof-it 4 Hunter is June 12

Third annual walk aids children with rare genetic disease
By Angeljean Chiaramida, Staff writer, Daily News of Newburyport

The family of a Seabrook boy stricken by a little-known genetic disease is gearing up for an annual two-mile walk to raise money and awareness to help others dealing with the effects of Cornelia de Lange Syndrome.

The Hoof-it 4 Hunter walk — named for 4-year-old Hunter Knowles — is set for Saturday, June 12, starting at 11 a.m. at Seabrook Elementary School on Walton Road, with proceeds to benefit the Cornelia de Lange Syndrome Foundation.

Hunter’s parents, Marcia and Jason Knowles, knew something was wrong with their sweet, loving child when he failed to gain weight and progress similarly to their other children. But it took dozens of doctors visits before Hunter was diagnosed at 21 months old with Cornelia de Lange Syndrome. Only then were his parents able to deal with the disease, make appropriate decisions and plan intervention therapies for his wellbeing.

Now a student in the special education preschool at Seabrook Elementary School, Hunter is doing well, his mother said.

“He’s started to talk. At school, he’s learning his numbers, his colors, his alphabet and he’s developing social skills,” Marcia Knowles said. “We’re so proud of him. He’s the best miracle for our family. He’s taught us so much.”

The Knowles family started the Hoof-it 4 Hunter walk three years ago, raising $6,000 the first year and $3,000 last year, even during a bad economy.

In addition to the walk, the Knowles family will be attending the CdLS Foundation conference in Texas next month. Marcia Knowles will be one of the conference speakers, perhaps supporting other parents who have children with the syndrome.

“The first two years of the walk, our main goal was to spread awareness,” Marcia Knowles said. “But, this year we’re hoping to raise more money, and all of it goes to the CdLS Foundation, since there’s such a lack of funds for this syndrome because it’s so rare. Many doctors still don’t know about it.”

• • •
To get involved in the Hoof-it 4 Hunter 2-mile walk, contact the Knowles family at 603-474-1966.

About Cornelia de Lange Syndrome

Named in 1933 for Dutch pediatrician Dr. Cornelia de Lange, who first noticed the similarity of symptoms in two of her patients, CdLS is a congenital syndrome, meaning it is present from birth. But CdLS is not considered a hereditary disease.

Caused by a genetic mutation or abnormality of one or more specific genes identified by researchers, experts believe CdLS may affect one in every 10,000 births. The exact number of cases, however, is unclear.

Symptoms can range from mild to severe, but there are physical characteristics CdLS sufferers share, although all do not need to be present. The characteristics include birth weight under 5 pounds; slow growth; small body, head, hands and feet; thin eyebrows; long eyelashes; short, upturned nose; cleft palate; thin, down-turned lips; excessive body hair; acid reflux; seizures; heart defects; bowel abnormalities; feeding difficulties; developmental delays, including speech; and finger, toe and limb abnormalities, including missing limbs.

With therapy and treatment, most children with CdLS can live into adulthood. However, left undiagnosed and untreated, heart, gastric and bowel abnormalities can threaten life.

Those who suspect their child may have CdLS should seek an evaluation by a genetic specialist.

For more on Cornelia de Lange Syndrome, visit http://www.cdlsusa.org.

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