What Happens When You Tell a Friend about DS Cognition Research

Need a reminder of how persuasive the promise of Ds cognition research can be? Take it from one of DSRTF’s supporting friends. “My name is Vittoria Aiello,” she writes, “and I am the proud mother of Federica, a 3-year old girl with Down syndrome.

“Since our daughter was born, my husband Massimiliano Albanese and I have been very active in advocating for the rights of people with Down syndrome. This past summer we decided we wanted to raise awareness about the importance of funding Down syndrome research, and started a fundraiser to benefit the Down Syndrome Research and Treatment Foundation (DRSTF). This fundraiser was a great success, not only because of the amount of money raised but also because of the awareness and significant interest this campaign raised among people from different walks of life.

“We started asking for donations from our friends and family and, slowly but consistently, our campaign grew beyond our relationship circle. In fact, we received numerous donations from people we barely knew. We were amazed by the empathy, solidarity, and humanity shown to us not only by family and friends, but also by simple acquaintances and people who happened to learn about our campaign from their family and friends — they joined this cause with incredible enthusiasm, involving, in turn, their family and friends.

“To us, our donors have not just given an amount of money. They have donated something more precious and less tangible than money: they have donated hope for a better future for people with Down syndrome.”

Our sincere gratitude goes out to Vittoria, Massimiliano, and their friends — and their friends…and beyond! — for believing in the importance of the work DSRTF promotes, for generously supporting it, and for spreading the word far and wide.

Remembering the Romp

The sun was bright at New York’s Asphalt Green — but no brighter than the smiles on everyone who joined us for this year’s Romp for Research! 2013 marked the Romp’s eighth anniversary, and the joy was infectious as families came together to celebrate the accomplishments and the potential of our loved ones with Ds. With music, sports, games, food, and entertainment, the Romp gave us all a day to remember as it gave research a phenomenal boost: this year’s Romp raised over $175,000 to support cognition research. And if that weren’t enough to make us feel like dancing, this breezy look at the Romp certainly would:

We thank all the volunteers who keep the fun coming each year at the Romp, and who sustain DSRTF’s efforts through their time and their considerable talents, notably Anthony Providenti, Mary Costello, and Stephen Lazare, founding members of our Romp committee. And we loved meeting every one of you who came out that day to play. A tip of the rainbow clown wig to you all — see you at next year’s Romp!

NIH Launches Down Syndrome Patient Registry

Connecting Families and Individuals with DS to Researchers

ds-connect-imageWe’re gratified and excited to pass along the news that the NIH has launched its national registry specifically for people with Down syndrome, DS-Connect. This centralized information clearinghouse has been created to facilitate communication among families, researchers, clinicians, and patient groups, and will be crucial, says DSRTF’s Chief Scientific Officer Dr. Michael Harpold, to facilitating and supporting new clinical studies and trials for the benefit of people with DS. We look forward to the enhanced information sharing it will allow, and we thank the NIH for its continued service to the DS community. Visit DS-Connect now!

Lemon Aid

Now here’s something truly refreshing!

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L to R: Owen Killius, Ryan Taylor, Hope Taylor, friend and organizer Grace Killius, Charlie Killius, Ben Taylor

Our friend Jill Taylor, mother of Hope, writes:

Grace, one of my daughter Hope’s friends, ran a lemonade stand for DSRTF this past weekend and raised $157. How sweet and wonderful is that?!  My daughter, Ryan, worked the stand with Grace the whole time in 98 degree heat.  They told every buyer it was for Ds research.

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My heart was FULL, to say the least.

Ours, too. We send our heartfelt thanks to Grace, Ryan, and the entire crew of helpers who generously gave their time and efforts to support the work we do.  As Jill says, “It’s so representative of Ds touching typically developing kids, as well.”  These kids are an inspiration — thank you all for being a real force for good.

New Potential Therapeutic Target for Treatment

A newly published study funded in part by DSRTF shows that an FDA-approved asthma drug already in use improves cognitive function in a mouse model of Down syndrome, providing evidence in support of a new therapeutic target, the beta-2 andregenic receptors in the hippocampus.

Stanford's Dr. Ahmad Salehi

Stanford’s Dr. Ahmad Salehi

The drug, a bronchodilator called formoterol, was shown in the study to strengthen nerve connections in the hippocampus, a brain center used for spatial navigation, paying attention and forming new memories, the study said. It also improved contextual learning, in which the brain integrates spatial and sensory information.  A high dosage of the drug was administered over a period no longer than two weeks, resulting in notable improvements in the mice’s neuronal structures. “The fact that such a short period of giving medication can make these neurons much more complex is very interesting,” said Stanford University’s Ahmad Salehi, MD, Ph.D., the study’s lead author and a DSRTF grant recipient.

Formoterol

Formoterol
Image via Wikimedia Commons under a GNU Free Documentation License.

Salehi called the study, published July 2 in Biological Psychiatry, an “initial proof-of-concept,” cautioning that the dose he and his colleagues used was higher than that used in asthma treatment and cannot be safely adminstered to human patients without the risk of significant side effects.  Nonetheless, these results hold great promise for new classes of drugs to target this receptor, with the goal of improving cognition in people with Down syndrome.

DSRTF is continuing support for this exciting research, and will provide updates on its progress.

World Down Syndrome Day 2013

For family members, friends, and compassionate helpers, Down syndrome is part of your daily reality. That’s true for us at DSRTF, too. We know the joy of loving people with DS — and we know the urgency of helping them build a future in which their promise can be fulfilled.

This month we take that message worldwide. March 21 — 3/21 — is World Down Syndrome Day. On this global awareness day, people around the world reaffirm their commitment to advocacy and inclusion, celebrating the vital role people with Down syndrome play in our societies.

The theme of this year’s WDSD Conference at the United Nations is “Right to Work,” focusing on the right of people with DS to earn a living in an inclusive, accessible labor market, and the importance of community support in making it a reality. We are proud that our work — delivering increased independence and opportunity through cognitive improvements — supports this imperative.

We hope you’ll help us celebrate through our efforts this month:

  • 3/21 Matching. On Thursday, March 21, donations will be matched 3:1. Last year your WDSD contributions raised nearly half a million dollars for cognition research — by giving and sharing this opportunity with friends and family, you can make this year even bigger.
  • Webinar: DS Cognition Research 101. This special presentation will offer an introductory look at Down syndrome cognition research: the science, the goals, the results thus far — and what you can do to help. Speakers from DSRTF and Roche will offer an informative, accessible look at current topics in DS research and the clinical trials currently underway. If you’re new to research or know someone who is, register now, then join us at 10 AM PT / 1 PM ET on Thursday, March 21 for this free online seminar. Register now.
  • World Down Syndrome Day Map. Last year we invited friends to help us put DS on the map — to send in photos and statements about what an improvement in cognition could mean to their loved ones. Will you help us build on this effort? Send a photo along with a brief statement answering this question: “What could a 15% increase in learning, memory, and speech mean for your loved one with DS?” (Please include your name, your town, and the name of the person pictured.) Together we’ll show what a world of possibility could open up through continued research and progress.

We’re excited to celebrate the power and the potential of increased independence for people with DS worldwide — on 3/21 and every day.

In Memoriam: David Cox, Member of DSRTF’s Scientific Advisory Board

It is with sorrow and a sense of great loss that we share the news that David Cox, M.D., Ph.D., an inaugural member of DSRTF’s Scientific Advisory Board, died unexpectedly on January 21 at the age of 66.

A world-renowned geneticist, Cox is remembered as “a driving force and a highly valued leader,” by his colleagues at Pfizer, where he served as a senior vice president, heading genetics research at the company’s Rinat facility. We recognize and appreciate the unique viewpoint he brought to the SAB as a representative of the pharmaceutical industry; the practicality and pragmatism he brought to the group gave an essential real-world perspective to DSRTF’s direction.

Cox began his career in medicine, where his innate curiosity found its full expression: “I always just wanted to be a doctor,” he said in 2003, but “I got sucked into research early on in college…When I was in the process of finishing medical school I realized that we didn’t actually understand how anything worked.” It was that urge to discover that shaped Cox into the innovator and pioneer he would become; his contributions were instrumental, say his colleagues, to the success of the Human Genome Project.

We salute Cox’s significant professional accomplishments, which include serving as a professor of genetics and pediatrics at Stanford and co-director of the Stanford Genome Center; participating in several international and national councils and commissions; and being elected to the Institute of Medicine of the National Academy of Sciences. We believe his contributions to the field are unsurpassed, and we’re grateful for his diligence in moving research forward.

But beyond the far-reaching effects of his work, we knew him as a supportive, energetic colleague whose presence and enthusiasm for research helped animate the SAB’s proceedings. DSRTF’s Chief Scientific Officer Michael M. Harpold, Ph.D., remembers Cox as “a very bright, insightful, focused colleague and counsel. He was always serious about what was essentially important, but also had a sharp sense of humor — a wonderful person.” Noting that Cox had been involved in DS research in the past but had abandoned it due to a discouraging lack of progress in the field, DSRTF co-founder Patricia O’Brien White described the SAB’s first meeting: “David was excited about the new energy being focused on Down syndrome research,” she said, “excited about the possibilities. He looked around the room, smiled, and said, ‘Hey, I’m back.’”

Cox is survived by his wife and three children, to whom DSRTF extends our sincerest condolences. We will miss him greatly, professionally and personally. We thank David Cox for his service and his friendship, and feel honored to have known him.