Run for Research: Chicago Marathon

research down syndrome, RDS Runners, Lottery registration for the Oct. 11 Bank of America Chicago Marathon, one of the world’s premier running events, ends on Tuesday, April 21. 

LuMind Research Down Syndrome has charity entries. More than 40,000 participants run from Grant Park, through the Loop, Old Town, Wrigleyville, Lincoln Park, through Little Italy, Chinatown, and Bronzeville, before ending up again in Grant Park. It is a flat course, cheering crowds line every mile, and the post race dining/partying opportunities and atmosphere are second to none.

Join us today!

Don’t take any chances… sign up with LuMind RDS Runners now. Reach us at rdsrunners@researchds.org for more information. LuMind RDS Runners is the nation’s charity running program that has raised hundreds of thousands of dollars to support Down syndrome cognition research.

Share this with anyone who has said: “Some day, I want to run the Chicago Marathon,” or who has said, “What can I do to support research that has the potential to identify therapies that will enhance life opportunities for persons with Down syndrome?” Let’s do this.

Lara Font_Chicago Marathon_1 cropped Team Pritchard_Chicago Marathon_1

Alexander’s Angels: Supporting Every Person in the World with Down Syndrome

By Veronica Fratta

Esther Gómez-Nieto greeting attendees of a WDSD celebration at the Long Island Aquarium.

Esther Gómez-Nieto (in red) greeting attendees of a WDSD celebration at the Long Island Aquarium.

We hear so much about how far a mother will go to help her child, but how about a grandmother?  Well, Esther Gómez-Nieto organized a walk, started an art show, educated college students, started a foundation, and raised hundreds of thousands of dollars—all to support her grandson Alexander and others with Down syndrome!

It all started in 2001, when Esther travelled to Arizona for the birth of her grandson. But shortly after her daughter-in-law had Alexander, the doctors determined that he had Down syndrome.  Esther had never had any contact with individuals with Down syndrome, so she immediately set out to learn more.

As she was researching Down syndrome, she came upon the Down Syndrome Research and Treatment Foundation (the LuMind Research Down Syndrome Foundation’s original name).  Esther was able to hear a talk by Dr. William Mobley, currently the Chair of the Department of Neurosciences at UCSD and a LuMind-funded researcher.  In Esther’s own words, she was “blown away by him” and knew that she had to help fund his important work on cognition.

In the years since Alexander’s birth, Esther has been hard at work doing just that.  She started by organizing the first Buddy Walk® on Long Island.  That Buddy Walk® has been so successful that, in 2014, there were 2,000 walkers and they raised over $100,000 to fund local organizations and services, national advocacy organizations, and Down syndrome cognition research.

But the Buddy Walk® wasn’t enough for Esther!  She realized she needed help and found a community of like-minded individuals.  In 2010, they became a 501(c)(3) organization called “Alexander’s Angels, Inc.”  More than 30 people help Alexander’s Angels, Inc. as board members, officers, and members of various committees.

All those hands come in handy as Alexander’s Angels has gone on to organize an exhibition, DOWNrightART, featuring the artwork of individuals with Down syndrome, and panel presentations on Down syndrome at local colleges and businesses.

These activities have allowed Alexander’s Angels to contribute very generously to the LuMind Foundation’s mission of advancing cognition research for people living with Down syndrome.  When asked why she made the decision early on to emphasize research, Esther Gómez-Nieto says that she realized that when you support research, you’re aren’t just supporting your child, your grandchild, or your local community.  You are supporting every person with Down syndrome in the world, because discoveries made in the lab will impact people with Down syndrome everywhere.

We at LuMind Research Down Syndrome are so grateful for Esther and her wonderful organization, Alexander’s Angels.  Thank you for your generous support of our common mission to fund cognitive research to help people with Down syndrome lead more productive and independent lives.

To learn more about Alexander’s Angels, you can go to their website at http://www.alexandersangels.org.

First Lady Mary Pat Christie Lights the Way for Ds Cognition Research

Thank you New Jersey First Lady Mary Pat Christie for championing the “Light the Way” program! Twenty-nine states and territories to date will be participating in Mrs. Christie’s campaign by showing support for Down syndrome cognition research on March 21, 2015, World Down Syndrome Day.

From Governor Christie’s office:

NJ Gov Header ImageFirst Lady Mary Pat Christie Spearheads “Light the Way” Initiative with First Spouses from Across the Nation to Bring Greater Awareness of Down Syndrome Cognition Research

Drumthwacket to Illuminate in Blue on March 21st to Recognize World Down Syndrome Day

For Immediate Release                                                                Contact: Kevin Roberts
Friday, March 20, 2015                                                                 609-777-2600

DSC_0573

Drumthwacket  “Lights the Way” in blue for World Down Syndrome Day.

Trenton, NJ – First Lady Mary Pat Christie is leading a national effort to bring attention to Down syndrome cognition research, a bio-medical initiative targeted at developing drug therapies aimed at improving memory, learning and communication for individuals with Down syndrome. Mrs. Christie is being joined by 28 other First Spouses from around the country who are participating in this year’s “Light the Way” program to help raise awareness in their home states.

Additionally, Governor Christie has proclaimed March 21 as Down Syndrome Day in New Jersey. Later that evening, Drumthwacket, the Governor’s official residence in Princeton, will be illuminated in blue to symbolize Mrs. Christie’s support of Down syndrome cognitive research.

“I am pleased to have so many First Spouses participate in this year’s Light the Way campaign and I sincerely thank them all for lending their support to an effort that not only expands awareness, but helps to empower adults and children with intellectual and developmental disabilities in New Jersey and across the nation,” said First Lady Mary Pat Christie. “The vital research generated through foundations like Research Down Syndrome (RDS) and LuMind are spurring scientific advancements that are giving these individuals greater opportunities to live independent and fulfilling lives that emphasize community, work and self-reliance.”

To date, First Spouses from Alabama, Alaska, Arizona, Colorado, Florida, Hawaii, Idaho, Illinois, Kansas, Kentucky, Louisiana, Maine, Maryland, Mississippi, Montana, Nevada, New Jersey, New Mexico, North Carolina, North Dakota, Pennsylvania, Ohio, South Carolina, Tennessee, Utah, Washington, West Virginia, Wisconsin and Wyoming are participating in this year’s Light the Way initiative.  In Florida, Governor Rick Scott and First Lady Ann Scott declared March 16-20 Down Syndrome Awareness Week and on March 21,  the Florida Governor’s Mansion will be lit in blue.

March 21 is particularly meaningful to the Light the Way campaign because Down syndrome results from the presence of three copies of chromosome 21. Down syndrome is the most common chromosomal disorder, affecting over 400,000 Americans. It occurs in approximately 1 in every 700 births.  Between 2006 and 2010, approximately 1.2 of every 1,000 babies was born with Down syndrome.

The Light the Way campaign will add support to the efforts of non-profit foundations Research Down Syndrome (RDS) and LuMind Foundation to educate and increase awareness and funding for Down syndrome cognition research. Research already funded by the foundations is  making encouraging progress in identifying potential treatments to lessen the impact of Alzheimer’s disease in persons with Down syndrome. Alzheimer’s disease is 3-5 times more likely to occur, at an earlier age of onset, in individuals with Down syndrome.

In the last few years, researchers have made significant progress toward understanding and treating the cognitive issues associated with Down syndrome. This initiative has led to several discoveries and supported the initiation of four clinical trials testing potential drug treatments. These studies now provide the promise of biomedical therapies for improving memory, learning and communication in individuals with Down syndrome, offering the potential for increased life opportunities.

For more information, please visit http://www.researchds.org or http://www.lumindfoundation.org.

 

 

 

Let’s Do This: Mobilizing the Cognition Research Army

By Maureen Wallace

The funny thing is, I’ve always had this unexplainable foreboding that I would develop Alzheimer’s disease. I guess that’s not so funny, is it.

The fear lurks in my mind, so much so that I visited a research facility once, thinking I’d be able to learn if I was “predisposed.” Turns out, the facility couldn’t do that.

Recently, I got an answer. My mom is starting to struggle with memory loss. Sure, we all do as we age. But a few incidents emerged that whispered, “Wait. Be still. Listen. Pay attention to me. This is more than lost keys.”

Suddenly, the possibility of Alzheimer’s smacked me in the face.

photo credit Stephanie Stum

Let’s fuel the “army of researchers” ready to develop opportunities to improve cognition for Charlie and people who have or may get Alzheimer’s disease (photo credit Stephanie Stum).

Except, this was its second, ferocious smack. The first was the day I learned my son, Charlie, who is only 4 years old, is likely to develop Alzheimer’s disease at the same time I do because he already has Down syndrome.

Down syndrome and Alzheimer’s. Wow. My fears sprang to life before my eyes: My mom and my son, two different generations, about to head up the same frightening, rocky, formidable mountain.

That’s why I’m talking to you right now, why I’m writing this when only a handful of people know about my mom’s condition. I asked her if I could. She almost scoffed as she said, “Of course!” She knows why this – what I’m saying – is so important.

Because the link between Alzheimer’s disease and Down syndrome is unavoidable and unequivocal. Down syndrome is the existence of a partial or full copy of the 21st chromosome. Alzheimer’s occurs on the 21st chromosome.

This is real.

It’s already happening in my family. It can happen in yours.

An evil, selfish monster is intent on robbing your loved ones of the not-so-indelible-after-all images of children – grandchildren – giggling and playing on the same beach you did.

This suffocating blob of “science stuff” is determined to rip away the ability for a perfume to conjure a vision of my mom, kissing me goodbye as I bolted out the door for school, already late.

But wait.

We have an army, poised to attack this monster. Researchers are on the cusp of life-changing, life-saving discoveries. That is real, too.

Except those same researchers are standing helplessly, empty-handed. The funding isn’t enough. Researchers cannot continue on passion alone.

And so, it’s up to us. Now. These may be all the warnings we’re going to get. It’s time to build our resources and forge against this horrible, awful disease on all our horizons.

In the meantime, as we take on Alzheimer’s, we will give people with Down syndrome, like my little Charlie (who right now only cares about Elmo and the Wheels on the Bus), some real hope.

Hope for treatments that don’t cure Down syndrome but rather help Charlie with just enough of a cognitive push to understand why we lock our doors at night. Why we don’t talk to strangers. Why it’s important to be able to remember how to do that job that earns him that paycheck that allows him ever-increasing independence.

Money. Turns out money can absolutely buy my child’s future. It may be too late for my mom. We may be at only the beginning of a slow and horrible devolution. Or are we?

I’m never giving up. What if it’s never too late? What if what we do in celebration of  World Down Syndrome Day, actually matters?

Let’s do this.

– Thank you Maureen and her amazing family for sharing their story. To do more to fight off the “evil, selfish monster” consider a donation to LuMind Research Down Syndrome Foundation. Donations from March 18 through March 21, 2015 (WDSD) will be matched 3:1. Yes, let’s do this!

My Giving Story: A Foot in Two Worlds – Ds and AD

By Anna M. Miller, PhD, RN

New developments in the relationship between Alzheimer’s Disease and Down Syndrome are truly exciting, particularly for those of us who have vested interests in both worlds.

GrandmaAnnaAndStephanie-200609

Proud Grandma Anna with her lovely granddaughter Stephanie. Anna supports Ds cognition research because she knows therapies that might help Stephanie may also help her, too.

My mother lived with classic AD progressive deterioration for 20 years, ending in total incapacity. Loving care-giving was an ongoing necessity, changing as her needs changed. Much later, my wonderful and beautiful granddaughter was born with Ds. Now 10 years old, she is very engaging, dearly loved, and quite high functioning, and new therapies to enhance her cognitive functioning (and maybe maintain mine!) may expand her potentials as she matures.

Such possibilities on the horizon send expectant shivers of excitement through my entire being!! She and I may come to have more in common than we thought!

My professional background and faith have helped me find gifts and grace through life’s challenges and opportunities, and also help me appreciate the intensive and extensive scientific efforts that have brought us thus far. Many thanks to all!

– Thank you to Anna and the entire Miller family for their support of LuMind Research Down Syndrome Foundation.

Q&A With Dr. William Mobley

mobley-headshotDid you attend our webinar in January and ask a question that wasn’t answered? Dr. William Mobley has the answers!

Dr. Mobley from the University of California, San Diego’s Down Syndrome Center for Research and Treatment and Dr. Jamie Edgin from the University of Arizona’s Down Syndrome Research Group spoke at our webinar on January 29, 2015. Thank you, Dr. Mobley and Dr. Edgin – and all the people who attended the webinar. To listen to a copy, please click here.

What is the number of copies of APP with typical Trisomy 21?

The answer is 3.  This is due to the presence of an extra copy of the entire 21st chromosome, which harbors the gene for APP and as many as 500 other genes.

Would inhibiting DYRK1A be beneficial?

Quite possibly.  What is not clear at present is exactly what changes in the Ds brain are due to the extra copy of the gene for this protein. What we do know is that it is an enzyme that acts on a number of neuronal functions and that an increase in the amount of this protein is likely to cause changes that impact normal function. A number of labs are working on this problem, including ours [UC San Diego Down Syndrome Center for Research and Treatment], and more data should be coming forward in the next few years. An ongoing trial of a non-specific inhibitor of this protein may provide important insights into what might be accomplished by creating treatments that would reduce its levels or effects.

What ages could benefit from the therapies that were discussed?

A good question.  Our studies and others focused on increased inhibition might well lead to treatments that would be given to children.

Our studies on APP target age-related changes in neurons and logically would be administered to adults.  But since the problems that an increased number of the APP gene causes are already detected in young people, we envision that such treatments may ultimately also be given to children.

The vaccine that targets a product of APP that I discussed will be first be administered to adults but then might well used in young adults and possibly children.

Can you tell us more about endosomal enlargement – timing, APP dose-dependence and tests?

Endosomal enlargement is indeed present in the very young brain and is a direct consequence of increased levels of APP. It is almost certainly seen in all people who have the full Trisomy 21.  The test for this would therefore be the test which shows whether or not someone is a full or partial trisomy. More sophisticated tests aimed at defining the number of APP genes present in the genome would also be useful, but I would suggest that the simply karyotype test should suffice for almost everyone with Down syndrome.

 

 

Governor First Spouses Join with New Jersey First Lady Mary Pat Christie to Support Advances in Biomedical Research to Treat Down Syndrome Cognitive Impairment

Cognition research funded by Research Down Syndrome and LuMind Foundation opens opportunities for individuals with Down syndrome and may identify potential treatments to lessen the impact of Alzheimer’s disease in persons with Down syndrome as well as the greater Alzheimer’s community.

Marlborough, Massachusetts (PRWEB) March 12, 2015

drumthwacket

Drumthwacket, New Jersey Governor’s residence, lit up in honor of Down syndrome cognition research on 3/21.

New Jersey First Lady Mary Pat Christie and Governor First Spouses across the country are again joining together to bring attention to Down syndrome cognition research, a bio-medical initiative targeted at developing drug therapies aimed at improving memory, learning and communication for individuals with Down syndrome. The First Spouse “Light the Way” event will be observed on World Down Syndrome Day (WDSD), March 21, 2015. This date is particularly meaningful as Down syndrome results from the presence of three copies of chromosome 21. On the evening of that day, Drumthwacket, the official residence of the Governor of New Jersey will be illuminated in the color blue to symbolize First Lady Christie’s support of Down syndrome cognitive research.

To date, First Spouses from Alabama, Alaska, Hawaii, Louisiana, Maryland, Mississippi, Montana, North Carolina, North Dakota, and South Carolina have endorsed this event. We’ve been pleased by the great many states and territories that have participated in the past and hope to have even more in 2015. The goal of the Light the Way program is to expand awareness of Down syndrome cognitive research, including the efforts of the non-profit foundations Research Down Syndrome (RDS) and LuMind Foundation to fund this research. Mrs. Christie has stated, “I am inspired by initiatives which are designed to empower individuals in New Jersey and pleased that other First Spouses have joined this campaign to increase awareness about this research which brings a fresh approach to the complex issues related to the needs of those with intellectual disabilities.”

The Light the Way campaign will add support to RDS and LuMind efforts to educate and increase awareness and funding for Down syndrome cognition research. Research funded by the foundations is also making encouraging progress in identifying potential treatments to lessen the impact of Alzheimer’s disease in persons with Down syndrome. Alzheimer’s disease is 3-5 times more likely to occur, at an earlier age of onset, in individuals with Down syndrome.

In the last few years, researchers have made significant progress toward understanding and treating the cognitive issues associated with Down syndrome. This initiative has led to the discovery of multiple drug targets and supported the initiation of four clinical trials testing potential drug treatments. These studies now provide the promise of biomedical therapies for improving memory, learning and communication in individuals with Down syndrome, offering the potential for increased life opportunities.

In other WDSD recognitions, Research Down Syndrome and LuMind have joined in raising awareness of the promise of Down syndrome cognition research by organizing the World Down Syndrome Day 321 Virtual Run/Walk. On March 21, thousands will be joining in running or walking any distance recognizing 321, such as 3.21miles, 321 yards, 3.21 laps…and so on…all as a creative effort to promote the benefits of exercise on cognitive health and support Down syndrome cognition research. In addition, LuMind Foundation will be offering a 3:1 match for all donations received during the March 21, 2015 weekend.

About Research Down Syndrome and LuMind Foundation
Research Down Syndrome and LuMind Foundation are non-profit foundations that support and fund Down syndrome cognition research conducted at leading institutions that are studying the basis of the intellectual impairments associated with Down syndrome, including Johns Hopkins University, Emory University, Stanford University, The University of Arizona, and the University of California, San Diego. Recent scientific advances have revolutionized this field of research, providing for the near term development of targeted medical therapies to treat the cognitive challenges associated with Down syndrome, improving memory, learning and communication, expanding and enhancing life opportunities, for people of all ages with Down syndrome. Research Down Syndrome and LuMind Foundation are legal corporate entities and 501(c) (3) nonprofit organizations designated by the Internal Revenue Code. For more information, please visit http://www.researchds.org orhttp://www.lumindfoundation.org.