Understanding the Basics of Down Syndrome Research - and how you can help

D.A.D.S. Webinar: 

Understanding the Basics of Down Syndrome Research - and how you can help

Tuesday, July 9, 2013 7:00 PM - 8:30 PM EDT

We know what it means to have a person with Down syndrome in our lives, but what does it mean to have Down syndrome? Even though we're aware of the definition - three copies of chromosome 21 instead of two - there's a lot still to learn about why this "triplication" occurs.

What kind of therapies, medications or strategies may be on the horizon to help improve the lives of people with Down syndrome? Whether it's cognitive delay or one of the many other conditions or diseases that our kids are prone to, what are the hopes for how research can help, and what can we as dads do to help?

Join D.A.D.S. and the Global Down Syndrome Foundation as we cut through the complexity of the science to show what's going on in the world of Down syndrome research and how it can affect your family.

This informative webinar will feature two leading scientists from the Linda Crnic Institute for Down Syndrome:

Tom Blumenthal, Ph.D.  

Executive Director

Huntington Potter, Ph.D.  

Director of Alzheimer's Research

Blumenthal and Potter will discuss what research is going on, what research is possible and what it all means to you. There will be time for questions and answers, so don't worry about any information going over your head.

Sign up for you or your D.A.D.S. group now by going to https://www1.gotomeeting.com/register/794287609

There's no charge, and we hope you can join us for what's sure to be an enlightening and informative evening. So don't wait - sign up today, and we'll see you on July 9!

Linda Crnic Institute for Down Syndrome Co-Hosts Workshop on Cognition in Down Syndrome in Washington, D.C., on April 13-15

Workshop will bring top scientists together to share discoveries, explore collaborations
from the Herald Online:
The Linda Crnic Institute for Down Syndrome will co-host the “Workshop on Cognition in Down Syndrome – Molecular, Cellular and Behavioral Features and the Promise of Pharmacotherapies” April 13-15 in Washington, D.C. The workshop will bring top scientists together to share discoveries and explore collaborations with the aim to improve the lives of people with Down syndrome.

Katheleen Gardiner, Ph.D., a professor at the Crnic Institute and the University of Colorado School of Medicine’s Department of Pediatrics, is the workshop’s organizer. This is the third international workshop she has organized on Down syndrome and the biology of chromosome 21.

Gardiner received a grant from the Jérôme Lejeune Foundation to organize the workshop and the past two workshops she organized in 2004 and 2007. More than 130 experts from a variety of scientific disciplines are expected to attend the workshop.

“Our invited speakers are not Down syndrome researchers but may be interested in a specific gene on chromosome 21 or in some other type or specific feature of intellectual disability,” Gardiner said. “They may be persuaded to think about doing Down syndrome research and/or provide new ideas, research tools or perspectives to current Down syndrome researchers.”

Gobal Down Syndrome Foundation 2012 Be Beautiful Be Yourself Raises $1.5 Million, Honors Jamie Foxx and Luke Zimmerman

Quincy Jones, Natasha Bedingfield Star at Benefit for Linda Crnic Institute for Down Syndrome
from Herald Online:
Over $1.5 million was raised at the Global Down Syndrome Foundation’s 2012 Be Beautiful Be Yourself Fashion Show on Saturday, Oct. 13, at the Sheraton Downtown Denver Hotel to benefit the Linda Crnic Institute for Down Syndrome. The gala was sold out, with 1,200 people in attendance, including football legends Pat and Annabel Bowlen, and John and Paige Elway.This year, the annual event honored Academy Award-winning actor Jamie Foxx and “The Secret Life of the American Teenager” TV star Luke Zimmerman with the 2012 Quincy Jones Exceptional Advocacy Awards. Quincy Jones, the organization’s International Spokesman, presented the award to Foxx, while Foxx’s sister, DeOndra Dixon, who is the foundation’s 2011 Ambassador, presented the award to Zimmerman.The Be Beautiful Be Yourself Fashion Show featured the foundation’s 2012 Ambassador, 6-year-old Samantha Marcia Stevens of Massachusetts, as well as 29 other guest models who happen to have Down syndrome. They strutted the runway with celebrity escorts, including actress Virginia Williams, Denver Nuggets star players Andre Iguodala and Danilo Gallinari, and Colorado Rapids forward Conor Casey. Kim Christiansen of 9News was the evening’s emcee.British singer-songwriter Natasha Bedingfield closed out the evening with a concert that featured dancing help from the models during her chart-topping hit “Unwritten.”The event’s live auction raised $210,000, with such exclusive offerings as Hyde Park Jewelers’ Kentucky Derby VIP package, an Indianapolis 500 experience with Buzz Calkins, and a dinner with Denver Broncos icons Pat and Annabel Bowlen, and John and Paige Elway.The money raised at the Be Beautiful Be Yourself Fashion Show provides crucial funding for research, medical care, education and advocacy benefiting people with Down syndrome. Because Down syndrome is the least-funded genetic condition by the National Institutes of Health, the research and care provided by the Linda Crnic Institute at the Anschutz Medical Campus in Aurora, and the Anna and John J. Sie Center for Down Syndrome at Children’s Hospital Colorado rely heavily on private funding.The Be Beautiful Be Yourself Fashion Show is the single largest annual fundraiser benefiting people with Down syndrome.More information about this event and the Global Down Syndrome Foundation is available at www.globaldownsyndrome.org.

About the Global Down Syndrome Foundation.
The Global Down Syndrome Foundation is a public non-profit 501(c)(3) dedicated to significantly improving the lives of people with Down syndrome through research, medical care, education and advocacy. Formally established in 2009, the Foundation’s primary focus is to support the Linda Crnic Institute for Down Syndrome, the first academic home in the US committed to research and medical care for people with the condition. Fundraising and government advocacy that corrects the alarming disparity of national funding for people with Down syndrome is a major short-term goal. The Foundation organizes the Be Beautiful Be Yourself Fashion Show - the single largest annual fundraiser benefiting people with Down syndrome. Programmatically the Foundation organizes and funds many programs and conferences including the Dare to Play Football and Cheer Camps, Global Down Syndrome Educational Series, and Global Down Syndrome Multi-Language Resource Project. The Foundation is an inclusive organization without political or religious affiliation or intention.

About the Linda Crnic Institute for Down Syndrome
The Linda Crnic Institute for Down Syndrome is the first medical and research institute with the mission to provide the best clinical care to people with Down syndrome, and to eradicate the medical and cognitive ill effects associated with the condition. Established in 2008, the Crnic Institute is a partnership between the University of Colorado School of Medicine, the University of Colorado Boulder, and Children’s Hospital Colorado. Headquartered on the Anschutz Medical Campus in Aurora, the Crnic Institute includes the Anna and John J. Sie Center for Down Syndrome at Children’s Hospital Colorado. It partners both locally and globally to provide life-changing research and medical care for individuals with Down syndrome. The Crnic Institute is made possible by the generous support of the Anna and John J. Sie Foundation, and relies on the Global Down Syndrome Foundation for fundraising, education, awareness and government advocacy. It is a research and medical-based organization without political or religious affiliation or intention.

Read more here: http://www.heraldonline.com/2012/10/16/4341081/global-down-syndrome-foundation.html#storylink=cpy

Cable TV pioneer Dr. John C. Malone makes impactful donation to the Global Down Syndrome Foundation

from the Global Down Syndrome Foundation:

Cable TV pioneer and Chairman of Liberty Media Corporation, Dr. John C. Malone, announced a $100,000 gift to the Global Down Syndrome Foundation to benefit the organization’s marquee annual benefit, the Be Beautiful Be Yourself Fashion Show.

The fundraiser will be held at the Sheraton Downtown Denver on Saturday, October 13, 2012 with celebrity and self-advocates such as dancer DeOndra Dixon, actor Luke Zimmerman, Music Icon Quincy Jones and Academy and Grammy Award-winner Jamie Foxx.

The Global Down Syndrome Foundation’s annual marquee event is equal part awareness-building and fundraising for the Linda Crnic Institute for Down Syndrome. The Be Beautiful Be Yourself Fashion Show is the largest single fundraiser for Down syndrome in the United States. At the heart of the event is the reality that Down syndrome is the least-funded genetic condition by the National Institutes of Health. 

After welcoming a granddaughter with Down syndrome into his family, John J. Sie, another cable TV pioneer who worked for Dr. Malone for more than 20 years, helped to launch the Crnic Institute and the Global Down Syndrome Foundation.

Dr. Malone commended his longtime friend and colleague, John J. Sie, for his approach to stimulating research and medical care benefitting people with Down syndrome. “I’ve known Johnny for a long time now. When he sets his mind to something he will get it done,” said Dr. Malone. “That’s good news for people with Down syndrome and their families – the research Johnny is underwriting is exciting and promising. I’m glad I can help.”

“This gift means a great deal to me, my family and of course the millions of people with Down syndrome who deserve more research funding and better medical care,” said John J. Sie, board member of the Crnic Institute. “We so appreciate John and Leslie’s generosity and friendship.”

Dr. Malone is Chairman of Liberty Media Corporation, a position he has held since 1990. He is also the Chairman of the Board of Liberty Global, Inc. (LGI), a position he has held since June, 2005. From 1996 to March 1999 when Tele-Communications, Inc., (TCI) merged with AT&T Corp., Dr. Malone was also Chairman and Chief Executive Officer of TCI. Previously, from 1973 to 1996, Dr. Malone served as President and CEO of TCI. He currently serves on the Board of Directors for CATO Institute, Expedia, Inc., Discovery Communications, Inc., and SiriusXM. Additionally, Dr. Malone is Chairman Emeritus of the Board for Cable Television Laboratories, Inc. as well as Director or similar capacity for various family businesses, Trusts or Foundations.

John J. Sie is founder and former Chairman of Starz Entertainment Group LLC. Founded in 1991, the Colorado-based company is owned by Liberty Media Corporation and is the parent of premium movie networks, including Starz and Encore.  Sie is considered by many to be the father of digital television – in 1989 he submitted the very first white paper on digital compression to Congress and the FCC that would dramatically change the landscape of television in the United States and the world. In 2005, Sie retired and with his wife Anna established the Anna and John J. Sie Foundation. The Foundation supports the sharing of knowledge amongst peoples and cultures throughout the global community, with emphasis on Down syndrome, education, media, business, and technology.

About the Linda Crnic Institute for Down Syndrome

The Linda Crnic Institute for Down Syndrome is the first medical and research institute with the mission to provide the best clinical care to people with Down syndrome, and to eradicate the medical and cognitive ill effects associated with the condition. Established in 2008, the Crnic Institute is a partnership between the University of Colorado School of Medicine, the University of Colorado Boulder, and Children’s Hospital Colorado. Headquartered on the Anschutz Medical Campus, the Crnic Institute includes the Anna and John J. Sie Center for Down Syndrome at the Children’s Hospital Colorado. It partners both locally and globally to provide life-changing research and medical care for individuals with Down syndrome. The Crnic Institute is made possible by the generous support of the Anna and John J. Sie Foundation, and relies on the Global Down Syndrome Foundation for fundraising, education, awareness and government advocacy. It is a research and medical-based organization without political or religious affiliation or intention.

About the Global Down Syndrome FoundationThe Global Down Syndrome Foundation is a public non-profit 501(c)(3) dedicated to significantly improving the lives of people with Down syndrome through research, medical care, education and advocacy.  Formally established in 2009, the Foundation’s primary focus is to support the Linda Crnic Institute for Down Syndrome, the first academic home in the US committed to research and medical care for people with the condition. Fundraising and government advocacy that corrects the alarming disparity of national funding for people with Down syndrome is a major short-term goal. The Foundation organizes the Be Beautiful Be Yourself Fashion Show - the single largest annual fundraiser benefitting people with Down syndrome. Programmatically the Foundation organizes and funds many programs and conferences including the Dare to Play Football and Cheer Camps, Global Down Syndrome Educational Series, and Global Down Syndrome Multi-Language Resource Project. The Foundation is an inclusive organization without political or religious affiliation or intention.

A model story from the Global Down Syndrome Foundation Gala

from The News-Herald By Jean Bonchak:

Erin Farragher is fond of a large poster picturing children she modeled with at the recent Be Beautiful, Be Yourself Global Down Syndrome Foundation Gala.

She smiles as she proudly points to the photos of those who have become her friends since the Washington, D.C., event.

“The poster is her trophy,” explained her mother, Maria Dellapina.

Erin, 12, who lives with Dellapina in Burton Village, has Down syndrome and was chosen to model for the fundraiser benefitting the Linda Crnic Institute for Down Syndrome at the Anschutz Medical Campus at the University of Colorado in Denver.

The audition tape showing Erin sporting her sister’s party frock caught event organizers’ eyes and landed her the runway spot.

“You put her in something frilly and fashionable and she’s a princess,” Dellapina said. “I knew she’d want to perform.”

Once chosen, Erin, who attends Geauga Project Achieve in the Kenston School District, practiced for the special occasion by promenading around the house and waving ceremoniously.

The rehearsal served her well as she successfully strutted down the gala’s runway.

Although she had several dresses from which to choose, she said her selection was based on its pleasing pattern with a look of peacock feathers and was cut in such a way that she could twirl in it.Meeting a few celebrities and politicians in attendance was another perk.

Supermodel Beverly Johnson, the foundation’s spokeswoman who has a niece with Down syndrome, took a significant amount of time with the models, which made Erin especially happy, Dellapina said. Erin’s bright smile and hearty nod affirmed her mother’s assessment.

Erin also had a chance to meet actor Jamie Foxx’s sister, DeOndra Dixon, the ambassador for the foundation, and she danced with entertainer and songstress Gladys Knight.

Politicians attending the event included U.S. Sen. Tom Harkin, D-Iowa; and U.S. Rep. Pete Sessions, R-Texas; both advocates for the genetic condition affecting 5,500 children born each year in the U.S.

Dellapina, who was inspired by her daughter to initiate the business Spec4us, which provides custom frames for people with Down syndrome, said she noticed some of the models wearing ill-fitting eyeglasses and has since helped some of them.

With an optical technician background, Dellapina said she recognized the need for the customized glasses when she was unable to find a pair to correctly fit Erin.

She sent her own designs — which revised standard glasses to fit the facial features often associated with Down syndrome individuals — to some manufacturers and eventually found one in South Korea with whom she is working.

Dellapina said the need for such a service is obvious. She often receives positive feedback from many people, including some who said that before the adjusted frames they chose not to wear glasses because they were too uncomfortable or didn’t work.

“I just feel blessed that we are able to enrich their lives, and they can participate in school and see the world more clearly,” Dellapina said.

Meanwhile, Erin is still basking in the memories of her modeling experience.

“I think the smile on her face while she was on the runway said it all,” Dellapina said.

Mother and daughter plan to return to the gala next year, and Erin is especially looking forward to reuniting with her friends.

 “I know when we are back … she will remember each one of them,” Dellapina said. 

Global Down Syndrome Foundation's Gala - "Be Beautiful, Be Yourself"

From MarketWatch:

The Global Down Syndrome Foundation announced that Gladys Knight, the Empress of Soul will perform live at its inaugural Washington, D.C. Gala - Be Beautiful, Be Yourself.

Washington's most powerful and influential leaders and professional athletes will gather to support Down syndrome research and advocacy on Wed., Nov. 16, 2011, at the J.W. Marriott in Washington, D.C.

The Foundation will honor Sen. Tom Harkin (D-Iowa) & Rep. Pete Sessions (R-Texas), two Congressional champions for the cause, with the Quincy Jones Exceptional Advocacy Award for their strong support and advocacy for the rights of people with disabilities. More than 600 friends of the Foundation are expected to attend, including national and local celebrities, congressional leaders, administration officials, ambassadors from around the world, members of the media, and senior corporate and association executives who share a commitment to human rights, civil rights and people with Down syndrome.

The event will include cocktails, dinner and a full-scale fashion show featuring beautiful guest models with Down syndrome, escorted by celebrities and professional athletes. The evening will be capped off with music from the Empress of Soul, Gladys Knight. VIP tickets include preferred seating, a VIP reception and photo ops with celebrities including Gladys Knight. Proceeds from the evening will benefit the Linda Crnic Institute for Down Syndrome, the first academic institute with a mission to eradicate the medical and cognitive ill effects associated with the condition.

The Global Down Syndrome Foundation will be hosting auditions for guest models with Down syndrome on October 5, 2011. Auditions will be held from 5:30-7:30 p.m. at the JW Marriott, 1331 Pennsylvania Avenue, N.W., Washington, D.C. 20004. For more information and to register for auditions, please contact Abby Perlmutter at Aperlmutter@globaldownsyndrome.org or 303-468-6665.

This year marks the debut of the Global Down Syndrome Foundation Gala - Be Beautiful, Be Yourself in Washington, D.C. In its third year in Denver, Colo., the event draws 1,200 attendees and notable supporters including Quincy Jones, Jamie Foxx, Timothy P. Shriver, "Survivor" host Jeff Probst, super model Beverly Johnson, award-winning actor John C. McGinley, NBA champion and New York Nicks' Chauncey Billups, pro golfer David Duval, and NFL champions Ed McCaffrey, John Lynch, Brian Griese, and John Elway.

The 2011 Ambassador for the Washington, D.C. event is Alex Sessions, the son of Rep. Sessions, who is a 17-year-old self advocate and a third generation Eagle Scout. He has won Special Olympic medals in swimming, basketball and track. His family will be attending and are important supporters and advocates of the Global Down Syndrome Foundation.

Established in 2009, the Global Down Syndrome Foundation's primary focus is to support the Linda Crnic Institute for Down Syndrome. The Crnic Institute is the first organization in the United States with the mission to eradicate the medical and cognitive ill effects associated with Down syndrome through basic and clinical research and through clinical care. The Crnic Institute incorporates scientific partners both locally and globally, with headquarters at the Anschutz Medical Campus in Colorado.

Sponsorship packages are available starting at $5,000. For ticket information, please contact Katie Maness at 703-288-8695 or kmaness@hayespr.com. To learn more about the Global Down Syndrome Foundation, please visit us at http://www.globaldownsyndrome.org/ .

Scientist tests promising drug on those with Down syndrome

from Health Canal:

A University of Colorado School of Medicine scientist is finishing a major clinical trial on a drug that could boost cognitive function in those with Down syndrome, significantly improving their quality of life and representing a potential milestone in research on this genetic disorder.

“We are hoping to enhance memory and learning in those with Down syndrome,” said Alberto Costa, MD, Ph.D., an associate professor of medicine and the neuroscientist leading the effort.

“We have been studying this drug for three years and are now ready to analyze the data on our trial. Our team at the University of Colorado and Children’s Hospital Colorado expects to have the results in the next two or three months.”

Costa, whose work was chronicled in last Sunday’s New York Times Magazine, (A Drug for Down Syndrome), is tested the drug memantine, currently used to relieve symptoms of Alzheimer’s disease, in 39 people with Down syndrome. About half received the drug and the others a placebo. In 2007, Costa demonstrated that memantine could improve memory function in mice with Down syndrome.

And now, for the first time, he is taking a drug effective in the treatment of learning and memory deficits in mice with Down syndrome and applying it to humans, a move described by the New York Times as “a milestone in the history of Down syndrome research.”

Costa is no disinterested researcher, his 16-year-old daughter Tyche – named for the Greek goddess of Fortune - has Down syndrome. Like others with the condition, she faces the specter of a steady decline in mental functioning as she gets older and a roughly 20 percent chance of getting Alzheimer’s in her 50’s. After that diagnosis, death is often just five years away.

“I feel I am racing the clock to find something that will at least keep her functioning at the level she is at now,” Costa said. “As they age, parts of their brain will shrink and their functions will diminish.”

Costa is actively pursuing links between Down and Alzheimer’s disease. He says babies born with Down often carry the biological markers for Alzheimer’s.

“They have the disease from the get go,” he said.

Costa says the world is awash in false assumptions about Down syndrome ranging from distortions on life expectancy to educational limitations. In fact, depending on the severity of their condition, those with Down can live into their 70s, attend college, live independently and hold down jobs.

 

“If we are successful, it will increase hope and expectations for those with Down syndrome,” Costa said. “Right now there are drugs for the signs and symptoms of medical conditions more frequent in those with Down syndrome, but nothing to improve brain function. In fact, the prevailing wisdom has been that there is essentially nothing you can do to boost memory and learning in this group. Hopefully, we can prove them wrong.”

But he and other Down researchers face an overall lack of federal funding, especially when compared to other diseases and disorders.

Costa has been supported by Forest Pharmaceuticals which is funding the clinical trial, the Linda Crnic Institute for Down Syndrome, the Coleman Institute for Cognitive Disabilities at the University of Colorado and the National Institute of Child Health and Development, part of the National Institutes of Health.

“Clearly these funding sources are the unsung heroes,” Costa said. “They may not get the attention or publicity but I can assure you that our efforts and the future of those with Down syndrome would be seriously compromised without their continued generosity.”

Call to Action from NDSS for NIH Funding

URGENT - PLEASE HELP! YOUR RESPONSE WILL HELP FUNDING FOR PEOPLE WITH DOWN SYNDROME

Dear friends and colleagues,

We are writing this urgent e-mail to ask for your help!

The National Institutes of Health (NIH) is the largest government funding organization for research. The NIH has issued a “Request for Information” regarding a national Down syndrome registry, research database and biobank. They are expecting responses from the Down syndrome community and from anyone who is interested in supporting people with Down syndrome. Every e-mail counts! 

If we have a large and clear response the NIH will be more likely to help us fund a Down syndrome registry, research database and biobank. The deadline to respond is Friday, April 1. Please help us!!

1. E-mail your conclusions and recommendations about a Down syndrome patient registry, research database and biobank to dsrdrfi@mail.nih.gov by April 1st
2. Please cc: us at nihresponse@globaldownsyndrome.org so we can keep track of the responses
3. You can use the subject header: “RESPONSE TO NIH DOWN SYNDROME RESEARCH DATABASE & BIOBANK RFI”

Example of a letter of support:

To Whom It May Concern:

It is morally, economically and scientifically important that the National Institutes of Health increase funding for people with  Down syndrome. We are pleased that the Linda Crnic Institute for Down Syndrome and the Global Down Syndrome Foundation have taken the lead with the NIH in this regard. We support and agree with the Linda Crnic Institute’s assessment of what the parameters should be for our future centralized Down syndrome patient registry, database and biobank. Please continue to work towards this end.  We appreciate NIH’s renewed interest in Down syndrome research and we appreciate NIH addressing the historical and alarming disparity of funding for research that would improve the lives of people with Down syndrome.

Sincerely,

(name)

For those of you who would like to learn more, we invite you to attend one of our webinars.  Please follow the appropriate link to sign up:

Wednesday, March 23, 12:00pm MST

Thursday, March 24, 12:00pm MST

Friday, March 25, 12:00pm MST

Monday, March 28, 10:00am MST

Tuesday, March 29, 12:00pm MST

Wednesday, March 30, 5:00pm MST

Down syndrome is the least funded genetic condition by the NIH yet it is the most frequent chromosomal disorder. Please help us get our fair share of research dollars that will help people with Down syndrome live healthier and more productive lives.

Gratefully,

Michelle Sie Whitten

Executive Director, Global Down Syndrome Foundation

(Mom to Sophia Kay Whitten who happens to have Down syndrome)