Down Syndrome Cognition Research: THE Most Important Opportunity

by Sarah Wernikoff

Sarah Wernikoff was honored with the Luminary Award at our inaugural recognition gala, the Sky’s the Limit. Sarah chaired the LuMind Foundation Board from 2012-2014 and served as a member of the board for seven years. She presented the following remarks on why LuMind Research Down Syndrome Foundation and Down syndrome cognition research are important to her. Thank you, Sarah, for your continued support and inspiration!

I feel very honored to be acknowledged in this way – particularly at the same event as Dr. Mobley — the original visionary behind this field of research, and Dr. Edgin. It’s only due to their genius, creativity and perseverance that we are all here today. I also want to thank the Whites who had the vision to make this organization possible, and who have done so much for this very important cause over the last decade.  And last, I can’t leave out Carolyn Cronin. The breath of fresh air that is carrying us into the future. Carolyn, thank you for your tireless commitment.

It’s ironic for me to be here in this way with Dr. Mobley, and Patty White, as they are the very two people who I first had contact with 11 years ago soon after my daughter Tate was born in October of 2003.

It’s still hard for me to talk about those early days, …but needless to say learning Tate had Ds was a complete shock to our family. We knew next to nothing about Ds and didn’t know what to expect – all we knew then was that our lives were going to be very different than what we had planned and envisioned.

It was between the shock, and I’ll admit the tears, of those initial few days that my husband Dan and I started thinking about research. What was going on the field of research to help us help assure our daughter would have the very best opportunities in life as possible?  We quickly learned about all of the community, educational, and advocacy resources that had made enormous strides in the past decade or two for people with Ds, and felt very fortunate to benefit from those tremendous efforts and successes……but what about research?

At the time, in 2003, if you went online to search Ds cognition research finding information was like finding a needle in a haystack. So after finding virtually nothing online, Dan and I began to network through Stanford, and Bill — I’m sure you don’t remember this, but I eventually tracked down your contact information and started hounding you (one might even say stalking you, but I will leave those details in the past).  But it was you who put me in touch with Patty who at the time was in the very beginning stages of founding this organization with Jim and the Kafkers in Boston.

So…that’s a long-winded way to tell you all how I got involved, but I tell it for two reasons.

The first is to paint the picture of how far this research has come in the last decade.  Today, in large part due to the work of those in this room, this same Google search results in pages and pages and pages of information and research breakthroughs. It was the goal of the honorees in this room to be a catalyst to cognition research, collaborate with the best and brightest and bring new researchers into the field – and they have done this in an incredibly short amount of time, and on an absolute shoestring budget.

The other reason I share the story is explain how innate and intuitive it was for Dan and I to know that cognition research was THE most important opportunity for our daughter.

When people ask me about my volunteer work and what LuMind is all about, I tell them it supports cognition research for people with Down syndrome. This usually results in blank stares, long pauses and a sense of confusion. Its’ not an easy thing to understand, like cancer research for example.  So I always try to describe it in more familiar terms, like glasses for someone who is visually impaired, or cochlear implants for someone who is hearing impaired.

We are not trying to change anyone — but just turn the dial and move the meter a bit on abilities. The ability to remember. How can you learn if you can’t remember? The ability and speed people with Ds process information. The ability to communicate, and ability to articulate thoughts and feelings.  It’s hard to put it into words, and in some ways you need to know someone with Ds well to understand it, but even small improvements in these areas will have a huge impact. The small improvements will impact the work they do at school, the richness of their friendships, the type of job they will have one day.  It will have a very direct impact on each child’s overall independence as adults, and even more importantly their risk of developing early onset Alzheimer’s disease.

Dan and I are convinced the research, whether results are subtle or significant, will have an enormous impact on Tate’s future. Yes, the years of weekly PT, OT, speech, socials skills therapy, and of course educational support we all give our kids is fundamental to their success, but cognition research, in my book has equal footing — and the potential to be a game changer to the futures of all those with Ds.

So it feels a little awkward to be here receiving an award for this work that is obviously very self-serving. It truly has been a labor of love.

And in case you were wondering, I thought I’d close by sharing that we were actually right in 2003 that our lives were going to be different. But what we didn’t know then, was what an overwhelmingly positive different it would be. Tate is the most fun, most loving and sincerely kind person we know. She is the nucleus of our family and it has been an absolute privilege to be her parents. Our goal, as with all of our kids, is for her to live her life to her greatest potential, and I thank all of you in this room for helping us do that.

The Sky’s the Limit for Down Syndrome Research!

Almost 100 people enjoyed the events during our “Sky’s the Limit” Awards weekend – a VIP reception, a research presentation by Dr. Harpold, Dr. Mobley, and Dr. Edgin, and of course, the inaugural Awards Gala on Saturday night.

Please enjoy our staff’s casual and candid photos of the Awards gala. We will have more photos and stories to share throughout the week. Thank you to everyone who participated, planned, or supported the event.

A special thank you to photographer Pavel Verbovski for capturing all the wonderful moments from the event. For those wishing to view and purchase professional images from the Gala, please visit the photographer’s website.

There’s still time to show your support with a donation in honor or one of our honorees – Dr. William Mobley, Dr. Jamie Edgin, Sarah Wernikoff, and Jim and Patty White. Select “Sky’s the Limit” when you make a donation and support our inaugural honorees.

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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:

First 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

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.

 

 

 

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.

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

Did 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.

 

 

LuMind Foundation and Research Down Syndrome Have Merged

LuMind Foundation and Research Down Syndrome have combined resources and programs. Together, we have contributed nearly $12 million to stimulate cognition research, resulting in the discovery of multiple drug targets and supporting the initiation of four clinical trials.

The LuMind Foundation (formerly the Down Syndrome Research and Treatment Foundation – DSRTF) and Research Down Syndrome (RDS), worldwide leaders in advancing Down syndrome cognition research, together announce consolidation of the two organizations. The new foundation will pursue their shared mission more effectively and efficiently, and leverage the tremendous progress each has made to ignite Down syndrome cognition discoveries.

The merged organization will be named LuMind Research Down Syndrome Foundation. The LuMind Research Down Syndrome Foundation will be led by a national board of directors, consisting of board members from both organizations. Ryan Hartman will continue from his position as LuMind Foundation Chairman of the Board and Dan Flatley, Research Down Syndrome founder and Chairman, will serve as Vice Chairman.

Carolyn Cronin, recently named President and CEO, will lead the organization. Robert C. Schoen, Ph.D., formerly President, Research Down Syndrome, will be Director, Donor and Event Engagement. Dr. Michael Harpold will remain as the Chief Scientific Officer, leading the very successful research program. LuMind Research Down Syndrome Foundation will be consolidated and headquartered in Marlborough, Massachusetts.

“The LuMind Foundation and Research Down Syndrome have shared a mission of funding cognition research for people with Down syndrome and a Scientific Advisory Board for many years,” explained Hartman. “Our mission includes raising $25 million in five years to support Down syndrome research. Now we are coming together to speak with one voice on issues that are relevant to individuals and families in the Down syndrome community, and leverage resources to increase funds for research grants.”

It is the mission of LuMind Research Down Syndrome Foundation to stimulate biomedical research to accelerate the development of treatments to significantly improve cognition, including memory, learning and speech, for individuals with Down syndrome enabling them to participate more successfully in school, lead more active and independent lives, and avoid the early onset of Alzheimer’s Disease.

“Bringing the organizations together will increase our fundraising capacity and accelerate bio-medical programs that, in just a few years, have already demonstrated great success,” Flatley added.

Research funded by LuMind Foundation and Research Down Syndrome has led to the discovery of multiple pathways contributing to cognitive impairment that may serve as potential drug targets and four clinical trials testing possible drug therapies are currently underway.

Harnessing the Momentum of Down Syndrome Cognition Research

by Ryan Hartman, Chairman,  LuMind Research Down Syndrome Foundation Board of Directors

Did you know if we had the funding, we could award $20 million in Down syndrome cognition research grants tomorrow?

One of the most interesting things I’ve learned since joining LuMind Foundation is the wealth of possibilities on the horizon. I’m a businessman with a background in aerospace, and I therefore appreciate the power of momentum and the efficient use of energy to keep making progress. Thanks to my son Taylor who has Down syndrome, I also have a personal interest in wanting to propel Ds research forward at mach speeds.

Ten years ago, there was little research progress on Ds. Researchers interested in unlocking the puzzle of Down syndrome were essentially forced to go into other areas because it was near impossible to secure funding for Ds discovery. Without funding, those researchers lent their talents to other efforts.

Now thanks to the efforts of the LuMind Foundation founders, donors, and the Ds community, there’s been a shift. Your support has been the catalyst and new researchers are entering the field and making exciting discoveries. We see proof each year at LuMind Foundation when our Scientific Advisory Board receives increasingly more proposals than we can fund with so many promising lines of discovery.

The momentum is exciting, but without additional funding we’re leaving research on the table. 

The LuMind Foundation has been successful in their approach to evaluating and selecting research grants and we have established awesome momentum. Thanks to you, four clinical trials are running based on discoveries ignited in one of our funded labs. We are proud of our results and the momentum we have generated, but we see so much more on the horizon. As within aerospace, momentum should be harnessed and coupled with propelling energy to gain more momentum to make further progress.

LuMind RDS Foundation plans to increase our propelling energy by amping up our funding while remaining true to our proven approach. What additional Ds research could we fund if we had the money? There are 20 million possibilities.

Leaving research on the table means there are discoveries, clinical trials, and drug therapeutics to improve cognition unfunded and undiscovered. Without a funding catalyst, the next great breakthrough could be delayed or remain undiscovered. Without a funding to propel us forward, we lose the momentum we have created.

I invest in cognition research for my son, but also because I see the possibilities. The ideas are there, the talent is there, we just need to keep fueling the momentum.

Please consider joining me in a year-end donation to LuMind RDS Foundation and cognition research.

A Research Story: Fragile X

On National Public Radio, there was a story about a foundation started by concerned parents, funding impressive discoveries, results of clinical trials, and the quest for new avenues of research. Nope, not the LuMind Foundation (or even our former name Down Syndrome Research and Treatment Foundation). This is a story about fragile X.

The NPR piece, ‘A Family’s Long Search For Fragile X Drug Finds Frustration, Hope’ highlights the family of a 25-year old man with fragile X. In 1994, his parents helped start the FRAXA Foundation to ignite research into fragile X. Recently, their son participated in a clinical trial that came about in part thanks to a researcher FRAXA had funded.

There are so many similarities between the journey of these parents of a young man with fragile X and our own quest to find drug therapeutics to improve cognition for people with Down syndrome. Change a few words, a few names, and this could be the Down syndrome community or the CF world, or MS or ALS.

This article illustrates the realities of research, the hopes and frustrations and lessons learned from each step in the research and clinical trial process. The positive force achieved from collaboration between the community, researchers, and biopharma companies also mimics our journey and approach.

Perhaps most importantly, this story underscores the importance of funding research because even when there aren’t immediate positive results, what is learned may open the doors to other discoveries.

Thank you for your support of cognition research.

 

Stretch Those Donation Dollars

We are often asked about programs that let our supporters do more with their donation. Here are some ways to have a greater impact on Down syndrome cognition research.

Holiday and milestone gifts – Many supporters ask their friends and family to donate to us instead of receiving a holiday gift. We have a variety of e-cards to send so you can honor a loved one or be remembered yourself with a gift to LuMind RDS Foundation.

Recurring gifts – Planned giving allows you to make a commitment to our organization on your schedule. Just check recurring donation on our donation page to set up a recurring gift.

Corporate matching – Many companies will match charitable contributions made by their employees. Corporate matching is a wonderful way to increase your gift to LuMind RDS Foundation allowing us to fund even more research.

Giving programs – Remember us during planning giving opportunities with the Combined Federal Campaign (12089) and United Way. For the CFC, we are still listed as Down Syndrome Research and Treatment Foundation.

Stock transfer – We are able to accept stock dividends as a donation. Just get in touch with us for the information.

Shopping programs – Many organizations, like Amazon Smile, have ways to send a portion of your shopping to a charity. We are registered with several sites, sometimes still as RDS or DSRTF. Check it out before you shop!

Corporate partnerships – We enjoy support from a number of corporations to sponsor events or programs. Check out our events page or get in touch with us for ideas!

Planned giving – We are able to work with you to set up legacy gifts, life insurance, and securities to benefit cognition research. Just ask.

Events – Consider hosting an event that benefits the LuMind RDS. We have lots of ideas and toolkits for all types of events. Pool your giving resources by encouraging your friends and family to donate – and have a fun time!

Let us know what you need to stretch your donations dollars. We can register with new sites and companies or provide nonprofit information so you can make your donation go further. Get in touch at LuMind@LuMindFoundation.org.

Affiliate Profile: The DS Association of Central Texas—Something for Everyone

Jack and Suzanne Shepherd

The Down syndrome community of central Texas is blessed with a great support organization. Founded in 1991, the Down Syndrome Association of Central Texas (DSACT) offers a wealth of programs for every stage of life.  We want to recognize DSACT for its generous support of the LuMind Foundation and share what makes them such a special group.

To learn more about DSACT, we spoke to Suzanne Shepherd, the Co-President of the Board of Directors and Healthcare Chair, as well as a busy mom to Jack, who is 17 and happens to have Down syndrome.

Suzanne first became involved with DSACT as a parent after Jake’s birth in 1997. In 2007, she joined the board of DSACT and she has been active in the organization ever since. Suzanne has been instrumental in developing many of DSACT’s programs, from outreach efforts to healthcare professionals to social groups for kids of all ages along with a wide variety of activities and classes. DSACT offers a truly amazing number of programs: book clubs; swimming, dance, and cooking classes; visual and martial arts; etc.

But what we at the LuMind Foundation appreciate beyond anything else is DSACT’s strong commitment to our joint mission of funding Down syndrome cognition research. DSACT has donated very generously to LuMind over the past several years. They have also organized a Research 101 seminar with LuMind’s Dr. Michael Harpold and Carolyn Cronin to educate and inform their members of the progress that has been made in the past decade.

“The research that wasn’t there when my son was born is now there,” says Suzanne, “and that gives me hope!” Hope because, Suzanne points out, “These cognitive treatments will allow people with Down syndrome to make greater strides toward living independent lives.”

Today, we can point to very important discoveries in the area of cognition at well-recognized and prestigious institutions. And, as Suzanne says, it’s more efficient for local organizations to pool their money together to fund research at the national level. In an ideal world, Suzanne would like every affiliate to follow DSACT’s example by contributing 5% of their budget to benefit LuMind and the important cognitive research we fund. We would love that too, Suzanne!