August 3rd, 2015 by Global Down Syndrome Foundation
Global donors ensure a pipeline of scientists researching Down syndrome — from undergrads and grad students to postdocs and senior investigators.
Dr. Tom Blumenthal, the Executive Director of the Linda Crnic Institute for Down Syndrome, believes in Down syndrome research so much he invested his personal funds to establish a graduate fellowship award. Blumenthal, along with biopharmaceutical entrepreneurs and pioneers Joe Turner and Larry Gold provided a generous challenge grant to the Crnic Institute for this purpose. In a few short months, Global has succeeded in attracting 15 donations to match theirs – mostly from scientists.
Last week, the first Blumenthal Graduate Fellowship in Down Syndrome was awarded to Amber Sorenson. The fellowship is designed to create a pipeline of excellent investigators engaged in Down syndrome research. Candidates are evaluated on the strength of their proposed science and the likelihood such science will lead to improving outcomes for people with Down syndrome.
“We are amazed by the generosity of Tom, Joe and Larry,” said Michelle Sie Whitten, President & CEO of the Global Down Syndrome Foundation. “And of course they have now challenged us again to raise about $200,000 to create a Blumenthal Graduate Fellowship housed at the Anschutz Medical Campus!”
The current fellows are appointed to the University of Colorado Boulder’s Molecular, Cellular, and Developmental Biology (MCDB) Department – the department where Blumenthal, Turner and Gold all had appointments.
Blumenthal Graduate Fellowship in Down Syndrome Recipient Amber Sorenson
Amber Sorenson, a PhD student at the University of Colorado Boulder, received the first Blumenthal Graduate Fellowship in Down Syndrome. Chosen for her scientific excellence, Sorenson will use the grant to better understand how having three copies of chromosome 21 instead of two, which causes trisomy 21, or Down syndrome, influences genes globally. The fellowship will provide Sorenson with a salary and pay her tuition for a year, as well as provide extra funding for the genetic sequencing technologies she needs to conduct her research.
“We know the extra chromosome is tiny and has approximately 300 genes on it,” said Dr. Tom Blumenthal, Executive Director of the Linda Crnic Institute, Sie Chair in Genomics at the University of Colorado School of Medicine and a Professor at MCDB. “But now we want to know how those extra genes cause the activity of genes on all the other chromosomes to change, too. That’s what Sorenson will be studying. It’s a very exciting project.”
Sorenson works in the laboratory of Robin Dowell, Ph.D., Assistant Professor at MCDB and the BioFrontiers Institute at the University of Colorado Boulder. Dr. Dowell is a recipient of a 2013 and 2014 Crnic Institute Grand Challenge Grant. Dr. Dowell focuses primarily on how the extra copy of chromosome 21 affects cells on the molecular level, and she’s researching this by looking at how cells transcribe, or read, DNA, which may explain whether the physical and intellectual anomalies people with Down syndrome experience are caused by the extra copy of chromosome 21 or by something else.
“There are a lot of differences between any two people, whether they have Down syndrome or not, and the challenge is figuring out when an observed difference between an individual with Down syndrome and a typical individual is just normal variation,” Dr. Dowell said. “For example, I’ve got insomnia and type 2 diabetes. Is the insomnia related to the diabetes, or do I just happen to have two independent, unrelated conditions that each occur with some frequency throughout the general population?”
Sorenson will take that research to a more granular level, Dr. Dowell said. Her project will focus on understanding how the extra copy of chromosome 21 influences certain DNA binding proteins.
“These proteins control what is read out from someone’s DNA and when that happens,” Dr. Dowell said. “The extra copy of chromosome 21 creates an imbalance between the two, and Sorenson is studying that system.”
Improving the Lives of People with Down Syndrome
During her early years of college, Sorenson became interested in genetics research and, in particular, how abnormal chromosome development influences organisms at the global level. That eventually grew into an interest in Down syndrome.
“Right now, the Down syndrome research field is very heavily focused on chromosome 21 but lacks a broader look at the global changes caused by the extra chromosome,” Sorenson said. “The more we can learn about how genes are regulated and what changes result from trisomy 21, the more we’ll know about how we can reverse some symptoms and alleviate some of the problems people with Down syndrome have. Developing a better understanding of that will lay the foundation for future research.”
Making Scientific Progress
The reality is that conducting biomedical research is increasingly expensive and requires a great deal of financial resources, Dr. Blumenthal noted. The Blumenthal Graduate Fellowship is now part of the funding opportunities available for Down syndrome research including the Undergraduate Scholarships, the Crnic Institute Grand Challenge Grants, and the Sie Post-Doctoral Fellowship Program at the BioFrontiers Institute.
Dr. Blumenthal is excited about the future of Down syndrome research. “We’re suddenly able to track this extra chromosome, where we weren’t before,” Dr. Blumenthal said. “It’s a matter of putting good money behind good science.”
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.
To help fund the important Down syndrome research being done at the Crnic Institute and the University of Colorado Boulder please visit our donation page.
August 3rd, 2015 by Global Down Syndrome Foundation
College-bound Devon Adelman and Megan Bomgaars represent Global at First Lady Michelle Obama’s 2015 “Beating the Odds” summit at the White House. The event is part of the First Lady’s Reach Higher Campaign, which celebrates students who have overcome the “odds” to attend college.
Devon Adelman and Megan Bomgaars in DC
When the Global Down Syndrome Foundation was invited to participate in the First Lady’s “Beating the Odds” summit, it didn’t have to look far to find two inspirational young women to represent the Foundation. Devon Adelman and Megan Bomgaars, two of only 150 students selected nationwide to attend the event, have Down syndrome and managed to “beat the odds” by attending college to pursue their career goals and to show the world people who are differently-abled can obtain a post-secondary education.
“The Global Down Syndrome Foundation was honored to be a part of the First Lady’s ‘Beating the Odds’ summit. Megan and Devon are two extraordinary young women who exemplify the unlimited possibilities for individuals with Down syndrome,” said David Charmatz, Senior Vice President of the Global. “Their personal success, self-advocacy work, and desire to further their education shows how people with Down syndrome are ‘reaching higher’ to lead their very best lives.”
Devon Adelman at the White House
Devon Adelman, an 18-year-old from Seattle, has Down syndrome, but that hasn’t prevented her from setting high goals and achieving them. While in high school, Adelman gave a keynote speech at the United Nations in New York City, worked with the Special Olympics and volunteered at the Seattle Aquarium. This fall she’ll be studying marine biology at Highline College in Des Moines, Washington.
“My favorite part was going in the White House, seeing Michelle Obama and then the unexpected visit from President Obama! It was amazing and beautiful,” said Devon. “My second favorite was talking with the cute boys in the entry hall…”
“I have to admit, I never expected to be invited to the White House in my life. So to go with Devon and represent the Global Down Syndrome Foundation was truly outstanding. I hope this event can serve as a wake up call to the disability community – to have high expectations, and to the education institutions – to include this amazing group of individuals,” stated Devon’s mom, Sue Adelman.
Megan Bomgaars at the White House
Megan Bomgaars, a 22-year-old from Evergreen, Colorado, lives by the motto “Don’t Limit Me!” In 2013 her video telling peers and educators “Don’t Limit Me!” became a YouTube hit with over 300,000 views. Bomgaars has started her own business, Megology, selling her own line of handmade products to help pay her college tuition. Bomgaars was the keynote speaker at this year’s National Down Syndrome Congress Annual Convention in Arizona. This fall she’ll study film at the University of Colorado.
“I was surprised and shocked to be in the White House in person for the Beating the Odds summit. It was cool to sit in the front row and see Mrs. Obama and Terence Jenkins from E! TV News,” said Megan. “I felt happy to represent people with Down syndrome who beat the odds.”
Kris Bomgaars, Megan’s mom shared, “I felt a sense of overwhelming pride that my daughter was representing people with Down syndrome and that the event encourages post-secondary education. Everyone at the White House graciously received Megan and Devon. I hope it’s the first of many events that will include people with differently-abled.”
E! News co-anchor Terrence Jenkins, First Lady Michelle Obama,
and Manuel Contreras, a rising senior at Brown University
The Reach Higher Campaign is the First Lady’s effort to inspire every student in America to take charge of their future by completing their education past high school, whether at a professional training program, a community college, or a four-year college or university. Students who attended the Beating the Odds summit were introduced to some basic tools necessary for success while pursuing their secondary education and/or professional training. They also had the opportunity to network among their peers with diverse backgrounds. The event was held on Thursday, July 23, 2015, at the White House.
Better access to education and medical care are important as the lifespan of individuals with Down syndrome increases and more emphasis is put on inclusion in the workplace and society. To address the needs of adults with Down syndrome Global has formed the Global Down Syndrome Foundation Adults with Down Syndrome Task Force. The Global Task Force is composed of over 60 dedicated experts, self-advocates and family members from around the world. The members are assisting to establish a world-class interdisciplinary medical care center for adults with Down syndrome.
August 3rd, 2015 by Global Down Syndrome Foundation
Jamie Brewer and American Horror Story costar Jessica Lange
Jamie Brewer as Nan, Season 3 of American Horror Story: Coven, courtesy of FX
Jamie Brewer as Marjorie, Season 4 of American Horror Story: Freak Show, courtesy of FX
Brewer wearing Carrie Hammer at the “Role Models Not Runway Models” NYFW event
Jamie Brewer, the “American Horror Story” star, will receive the 2015 Quincy Jones Exceptional Advocacy Award at Global’s Be Beautiful Be Yourself Fashion Show on October 24.
The Global Down Syndrome Foundation established the Quincy Jones Exceptional Advocacy Award in honor of Quincy’s life-changing leadership in humanitarian efforts to help the disadvantaged. The award recognizes those who have championed people who are differently-abled, including people with Down syndrome, in several categories such as humanitarian work, self-advocacy, and public service.
Brewer joins notable recipients including Quincy Jones, Jamie Foxx, John C. McGinley, Timothy P. Shriver, Kyra Phillips, Patrick Kennedy, Beverly Johnson, and self-advocates Karen Gaffney, DeOndra Dixon, Tim Harris, Sujeet Desai, Brad Hennefer and Luke Zimmerman.
“What an exciting honor to receive the Quincy Jones Exceptional Advocacy Award from the Global Down Syndrome Foundation,” said Brewer. “Being an advocate has been a big part of my life. I love meeting and being inspired by everyone. Advocacy encourages awareness for everyone, and it’s a good thing. I believe advocacy in our world helps us create a better place we all call home.”
Brewer grew up loving all forms of the arts, especially movies and theatre productions. She was fully included in Texas and Southern California public school systems from kindergarten through high school. After graduation, she attended a local California college and studied theatre arts. Through the casting liaison service Down Syndrome in Arts & Media she landed a role on the award-winning TV series “American Horror Story”.
Brewer made headlines earlier this year when she rocked the runway at New York Fashion Week as the first model with Down syndrome to walk.
“It’s amazing that the fashion industry is including individuals” who are differently-abled, Brewer told ET.
Brewer plans to continue to be an advocate and role model for people who are differently-abled.
In addition to receiving the Quincy Jones Exceptional Advocacy Award at Global’s Be Beautiful Be Yourself Fashion Show, Brewer will walk the runway along with about 20 other beautiful models with Down syndrome and celebrity escorts. The Be Beautiful Be Yourself Fashion Show is Global’s marquee fundraiser and attracts a sold-out crowd of 1,200 people every year. This year’s event is Saturday, October 24, 2015 at the Colorado Convention Center.
Cheer on Brewer and the other models with Down syndrome by securing your tickets or table sponsorships today at BeBeautifulBeYourself.org.
August 3rd, 2015 by Global Down Syndrome Foundation
A packed house heard from leading scientists and clinicians at Global’s Research and Medical Care Roundtable: “Alzheimer’s Disease and Down Syndrome – What Parents and Caregivers Should Know.”
DS & AD Experts Drs. Dennis McGuire, Brian Chicoine, Ira Lott and Michael Rafii
Global’s Roundtable attracted world-renowned Down syndrome and Alzheimer’s disease experts to the NDSC Annual Convention in Phoenix, Arizona, on June 25. The half-day of topics on cutting-edge research and best-practices medical care included current research projects, promising trials, symptoms and signs of Alzheimer’s disease in Down syndrome, diagnosis of dementia, and behavioral issues in people with Down syndrome and dementia. Global is dedicated to supporting the exploration into the important relationship between Alzheimer’s and Down syndrome.
The experts presented their work and answered questions for 285 attendees – 85 percent self-advocates and family members, and 15 percent professionals. Thirty-two international attendees represented countries including Argentina, Brazil, Canada, Chile, Dominican Republic, Guatemala, México, Nigeria, Peru, Puerto Rico, Spain, and the United Kingdom.
“What an excellent offering for this conference! It reminds me of the profound impact the Global Down Syndrome Foundation is having,” said Karen Prewitt, Florida parent of a child with Down syndrome and Board Member of Down Syndrome Association of Jacksonville.
The Global Roundtable was broken into two panels: Clinical Care and Research. The Clinical Care Panel included moderator Dr. Brian Chicoine, presenters Dr. Ira Lott, Dr. Dennis McGuire, and Dr. Michael Rafii. The Research Panel included moderators Dr. Joaquin Espinosa and Dr. Tom Blumenthal, presenters Dr. Elliott Mufson, Dr. Huntington Potter and Dr. Donna Wilcock.
Dr. Lott’s research interest is focused on development and aging in Down syndrome. His Roundtable presentation examined the connection between seizures and dementia in individuals with Down syndrome. You can view his presentation powerpoint on the Global website.
In addition to his extensive research work, Lott is a member of Global’s Adults with Down Syndrome Task Force, a nearly 70 member committee made up of renowned medical professionals, activists, and self-advocates from around the world to help establish an Adult Down Syndrome Medical Center. This new Center will complement Global’s existing affiliates — the Crnic Institute and the Sie Center for Down Syndrome — in providing a spectrum of research and medical care to the Down syndrome community.
Lott has received two national awards for his research and has been commended by the California State Senate for his work on behalf of individuals who are differently-abled. Lott’s research has been supported by the National Institutes of Health, Alzheimer’s Association, and the State of California.
The Roundtable’s large audience reflected the keen interest the Down syndrome community has for Down syndrome and Alzheimer’s disease research. The scientific world now understands that 100 percent of people with Down syndrome have the “brain pathology” of Alzheimer’s disease. However, it is estimated that only 50 percent will get the actual symptoms of dementia associated with the disease. Clearly, answering the question why half of the people with Down syndrome, do NOT get dementia is a promising path towards treatments or a cure.
August 3rd, 2015 by Global Down Syndrome Foundation
The House overwhelmingly passes the bipartisan legislation, which would increase NIH funding and potentially create a new era for Down syndrome research.
Congresswoman Diana DeGette and Energy and Commerce Committee Chairman Fred Upton have been working on a new initiative that aims to accelerate the pace of cures and medical breakthroughs in the United States. Health research and innovation move at a rapid pace, and it is important to ensure the federal agencies involved in research and drug and device development have the necessary tools to keep up.
“We have dedicated scientists and bold leaders at agencies like the NIH (National Institutes of Health) and the FDA (U.S. Food and Drug Administration), but when our laws don’t keep pace with innovation, we all lose,” as stated in the mission of the 21st Century Cures Act.
Under the 21st Century Cures Act, the NIH would receive at least an additional $1.75 billion per year for five consecutive years and the FDA will receive an additional $550 million per year during that term. These resources will support important new research and the safe and speedy approval of new treatments and therapies.
Global supports the legislation because it has the potential to dramatically increase the number of labs and the types of research into Down syndrome currently being funded by the NIH. Reps. DeGette and Upton met with Global executives Michelle Sie Whitten and David Charmatz, and Global intern Kat Loewen, along with leaders of over a dozen health care nonprofits in the Denver area on June 29 to discuss the 21st Century Cures Act.
“What a net positive for everyone – here is a way to increase funding without taking away from something else,” said Whitten, President and CEO of Global. “The Down syndrome community should get behind this in Congress in a big way and we’re here to help make that happen.”
About the 21st Century Cures Act
DeGette and Upton took a comprehensive look at what steps could be taken to accelerate the pace of treatments and cures in the U.S. This bipartisan effort, launched more than one year ago, took a broad look at the full arc of the process – from spurring the latest discoveries in basic science, supporting the development of new, innovative drugs and devices, to ensuring the effective and efficient delivery of care to patients. The 21st Century Cures Act – introduced as H.R. 6 – passed the Energy and Commerce Committee unanimously on May 21, 2015, and passed the full House 344-77 on July 10.
The bill’s authors, DeGette, Upton, and Congressmen Joe Pitts, Frank Pallone Jr. and Gene Green, said: “Today, we took a big leap on the path to cures, but we still have much work left to do. The 344 votes today should be a springboard for action. On to the Senate.”
H.R. 6 would streamline various regulations and requirements to make sure researchers are able to comply with them, and it would eliminate duplication in the review process by fostering broader utilization of central institutional review boards (IRBs) for trials being conducted at multiple institutions.
The impact on Down syndrome research
Because Down syndrome remains one of the least-funded genetic conditions by the NIH, the potential for a new infusion of research funding promises to greatly expand upon the exciting work already being done on Down syndrome’s connection to Alzheimer’s disease, cancer, autoimmune disorders, and other ailments, diseases, and conditions. The hope is that such research will lead to treatments that benefit not only people with Down syndrome but also the typical population.
As part of the push for the passage of the 21st Century Cures Act, the Global Down Syndrome Foundation will host a Town Hall Briefing with Congresswoman DeGette on Friday, August 7th, on the Anschutz Medical Campus in Aurora, Colorado. Registration for the briefing is on a first-come, first-served basis.
Follow the progress of the 21st Century Cures Act on Twitter with hashtags #Path2Cures and #Cures2015, and contact your senator to voice your support as legislation moves through the Senate.
July 7th, 2015 by Global Down Syndrome Foundation
Leah Spring and her family
Tom Blumenthal, Ph.D., upper left, molecular biologist
Joaquin Espinosa, Ph.D., cancer and molecular biologist
Leah Spring has five children with Down syndrome — and she’s fighting breast cancer. At the Linda Crnic Institute for Down Syndrome, researchers are studying how people with Down syndrome and their resistance to solid tumor cancers can help people like Leah.
Leah Spring, who lives in Eagan, Minnesota, has a big family. Her eight children range in age from 10 to 28 and comprise her “Garden of Eagan,” which is also, not coincidentally, the name of her blog.
Five of those kids also happen to have Down syndrome. Spring gave birth to her first, Angela, in 1996 and adopted her other four between 2010 and 2014 (she’s in the process of adopting a fifth) from Serbia, where only children with special needs qualify for international adoption.
“Down syndrome is normal to us,” Spring told The Associated Press. “If there’s a kid out there with Down syndrome who no one wants because they think they can’t handle Down syndrome, well, we can.”
While Spring, and all of her children, accept Down syndrome as a joyous diversity of ability, she’s had to deal with something much less joyful in recent months, a diagnosis of breast cancer.
The fight hasn’t been easy. She chose to treat her cancer aggressively with a double mastectomy, chemotherapy, surgery, and a five-year course of medication. Through it all, she told the news service, her children have given her the energy she needs to battle this insidious disease.
The Down Syndrome – Cancer Connection
Spring’s children might also be giving her much more.
People with Down syndrome have a significantly lower risk than the typical population of developing solid tumors that cause breast, colon, and other aggressive cancers. Tom Blumenthal, Ph.D., Executive Director of the Crnic Institute, and Joaquin Espinosa, Ph.D., Associate Professor in the Department of Molecular, Cellular, and Developmental Biology at the University of Colorado Boulder and Howard Hughes Medical Institute Early Career Scientist, are researching a number of theories to explain this anomaly. They are looking at how the “overexpression” of chromosome 21 — Down syndrome is caused by having three copies of chromosome 21 instead of two — appears to influence the suppression of solid tumor cancer, as well as how cancers respond to treatment.
For instance, the extra copy of chromosome 21 is known to cause deficiencies in cell division in people with Down syndrome, and scientists have theorized that stem cells required to produce tumors in individuals with Down syndrome may not be able to divide quickly enough to form a cancerous tumor. Another theory postulates that chromosome 21 contains one or more genes that naturally slow down tumor growth. For instance, there is a gene on chromosome 21 known to suppress growth of new blood vessels, and new blood vessels are needed for tumors to grow.
“So far, we do not understand why people with Down syndrome have a significantly decreased frequency of tumors,” Dr. Blumenthal said. “Understanding the elements that can prevent cancer would be a tremendous contribution individuals with Down syndrome could make to the world.”
Join Global Down Syndrome Foundation today to read more about research on Down syndrome and cancer, including how researchers are working to uncover why children with Down syndrome are at a higher risk of leukemia, in the latest issue of Down Syndrome World magazine.
July 7th, 2015 by Global Down Syndrome Foundation
Alex Taleaga and Anna Stotts
Paige Bowling, Sara Stephenson, Ashley Poulson and Lauren Farrell
Felisha Hess and Amy Garcia
The Salah Foundation helps fund adult education programs including the Be Beautiful Be Yourself Hollywood Ball.
The fourth annual Be Beautiful Be Yourself Hollywood Ball “Gold & Glam” was held on Friday, June 12, 2015 in the elegant Grand Ballroom at the Four Seasons Hotel in downtown Denver. Over 130 adults with Down syndrome and guests attended.
The Denver Post covered the event and noted, “When it comes to fundraising galas, the Global Down Syndrome Foundation seems to have the Midas touch. The smiles and the laughter of the young adults in attendance is enough to light up any room.”
The Salah Foundation grant has allowed Global to work with world-class researchers to create evidence-based educational programs for adults with Down syndrome in the areas of safety, health, nutrition, and communication and speech. The Hollywood Ball provides self-advocates with the opportunity to embrace physical activity and proper socialization skills in a safe and fun environment. The grant enabled Global to provide this high-quality event to a wide audience.
“Every year gets better and better. This is Alex’s favorite event and he counts the days every time,” said Remy Taleaga, Alex’s father. Guests, dressed in their best, enjoyed a glamorous night with dinner and dancing. Many self-advocates were styled and fitted at Global partner Nordstrom. This event is an opportunity to celebrate the beauty and brilliance of people with Down syndrome. Sara Stephenson raved, “My friends and I had a wonderful time, best dance of the year!”
“I didn’t really know what to expect when a friend of mine invited me to this event,” said Streeter McClure. “Now I wouldn’t miss it for the world. I dance all night and I have developed very close friendships. People with Down syndrome are absolutely more alike than different – in some ways they’re way more cool.”
The Salah Foundation is a private foundation that supports non-profit organizations in the United States that strengthen families and communities and advances individuals to become productive and responsible citizens. There is a special interest in education, medical research, community development and self-sufficiency programs aimed at the economically disadvantaged, the young, the elderly and the disabled.
July 7th, 2015 by Global Down Syndrome Foundation
Colorado Governor John Hickenlooper and the state legislature allocate $500,000 for the Rocky Mountain Alzheimer’s Disease Center. The state has now invested $750,000 to support the first Alzheimer’s disease research and clinical care center in Colorado and the first in the U.S. with a specific focus on Down syndrome.
The Global Down Syndrome Foundation’s Alzheimer’s disease initiative received another big boost from the state of Colorado this year when Governor John Hickenlooper included in his budget $500,000 for the Rocky Mountain Alzheimer’s Disease Center.
Governor John W. Hickenlooper signed the Colorado ABLE Act at the State Capitol, with Connor Long, co-sponsor Rep. Jessie Danielson, co-sponsor Sen. Beth Martinez Humenik and Grace Arnold.
A key issue for the governor is addressing the fact Colorado is one of the fastest-growing states in terms of Alzheimer’s disease as a percentage of the population. Currently, an estimated 400,000 people in Colorado and adjacent states have Alzheimer’s, at an estimated societal cost of over $18 billion a year, according to a 2015 report from the Alzheimer’s Association.
The scientific world understands most people with Down syndrome have the brain pathology of Alzheimer’s disease and an estimated 50% will develop dementia symptoms before age 50. Answering the question of why half of the people with Down syndrome do not get dementia is a promising path toward treatments or a potential cure for Alzheimer’s, which would benefit people with Down syndrome as well as the typical population with Alzheimer’s.
The Rocky Mountain Alzheimer’s Disease Center is the first comprehensive Alzheimer’s center in the United States with a special focus on Down syndrome. It is housed at the University of Colorado School of Medicine at the Anschutz Medical Campus in Aurora and co-funded by the university’s Neurology Department and the Linda Crnic Institute for Down Syndrome, the first academic home for Down syndrome research in the country. It is the only comprehensive, full-time center in a 600-mile radius of Denver and a much needed resource for families in the region.
Dr. Huntington Potter
Huntington Potter, Ph.D., is the founder and director of the Center and was recruited by the Global Down Syndrome Foundation, the Crnic Institute, and the Department of Neurology at CU.
Potter is a renowned Alzheimer’s disease researcher who discovered the mechanistic relationship between Alzheimer’s and Down syndrome.
People with Down syndrome by definition are born with three copies of chromosome 21 instead of two. People with Alzheimer’s disease have many cells with three copies of chromosome 21. As the amyloid precursor protein gene (APP) resides on chromosome 21, these trisomy 21 cells produce excess APP and its product, the Alzheimer beta peptide, contributing to the development of Alzheimer’s disease pathology.
“Our first goal is to create — within the next three years — a comprehensive, nationally recognized Alzheimer’s disease patient care center and research institute that will serve the people of Colorado and surrounding states,” Potter said.
In addition to Potter, the CU Department of Neurology recruited Jonathan Woodcock, M.D., to be clinical director of the Rocky Mountain Alzheimer’s Disease Center.
Potter also launched the Center’s first clinical trial looking at Leukine in people with early onset of Alzheimer’s disease after his lab discovered the protein that likely explains why people with rheumatoid arthritis rarely get Alzheimer’s disease. Leukine is already approved by the FDA for use in patients with arthritis, and there are indications that Leukine can be a treatment in the pursuit of a cure for mitigating symptoms of Alzheimer’s.
Support for the Rocky Mountain Alzheimer’s Disease Center is just one of the Global Down Syndrome Foundation’s Alzheimer’s initiatives. In 2013, the Global Down Syndrome Foundation, the Crnic Institute and the national Alzheimer’s Association established the Down Syndrome-Alzheimer’s Disease Investigator Program. The program has funded $1.2 million in grants to investigators around the world, with another round of grants to be released in 2015.
In May, Global, the Crnic Institute and the national Alzheimer’s Association convened a workshop of leading scientists who are searching for ways to share resources and speed up the search for a cure or effective Alzheimer’s treatments for people with Down syndrome. The group is working to improve data collection around the globe on people with Down syndrome and expand their inclusion in clinical trials, while ensuring that such efforts are done with sensitivity and care.
Read more about the workshop in The Washington Post’s article “Why studying Alzheimer’s in people with Down Syndrome could help everyone.”
June 3rd, 2015 by Global Down Syndrome Foundation
Athletes with Down syndrome will punt, pass, and cheer at Global’s Dare to Play Football and Cheer Camps with Ed McCaffrey and the Denver Broncos Cheerleaders
Join the Global Down Syndrome Foundation on Game Day and celebrate amazing self-advocates in Global’s Dare to Play Football Camp with Ed McCaffrey and
Dare to Cheer Camp with the Denver Broncos Cheerleaders!
Saturday, June 20, 2015, 10:30am – 2:00pm
Valor Christian High School
3775 Grace Blvd., Highlands Ranch, CO 80126
The Global Down Syndrome Foundation launched the Dare to Play Football Camp and the Dare to Cheer Camp for individuals with Down syndrome in the summer of 2010. The camps have served 500 people with Down syndrome. Each year, the camps include three practices that culminate with a Game Day at Valor Christian High School. During the game and at halftime, the campers get to show off their skills to an audience of more than 400 people.
“Sebastian had an amazing time at the camp and still talks about his pal Marcus. Our entire family enjoyed Game Day immensely! I could go on and on about the awesomeness of the day.” – Jane Hoppens
Football players from Valor Christian High School serve as “Pals” for the Dare to Play Football campers, while members of the Denver Broncos Cheerleaders help teach cheerleading routines, drills and dance moves to the Dare to Cheer campers. On Game Day, they are joined by celebrity coaches such as current and former Denver Broncos Ed McCaffrey, Orlando Franklin, Malik Jackson, Al Wilson, Mark Schlereth, and Brian Dawkins.
Join in the festivities this year! Game Day runs from 10:30am to 2:00pm on Saturday, June 20, ending with a Community Celebration Party!
Registration for Global’s Dare to Cheer Camp has closed, but registration is still open for Global’s Dare to Play Football Camp. Register today!
June 2nd, 2015 by Global Down Syndrome Foundation
Gretchen Josephson with her book Bus Girl
The Global Down Syndrome Foundation (Global), the Linda Crnic Institute for Down Syndrome (Crnic Institute) and the national Alzheimer’s Association co-sponsored a seminal workshop calling attention to the connection between Down syndrome and Alzheimer’s disease. This important workshop was profiled in The Washington Post.
The workshop is one of many collaborations between Global, the Crnic Institute and the national Alzheimer’s Association. In 2013, the three organizations established the “Down Syndrome – Alzheimer’s Disease Investigator Program.” $2.2 million has been committed to this effort so far with initial awards funding promising research to the following scientists:
Crnic Institute Director of Alzheimer’s Research
Dr. Huntington Potter
Global and the Crnic Institute have made the important connection between Down syndrome and Alzheimer’s disease a priority. In 2012 the Crnic Institute hired Huntington Potter, Ph.D., international expert in Alzheimer’s disease who discovered the mechanistic relationship between Alzheimer’s and Down syndrome. Dr. Potter has been involved with the national Alzheimer’s Association since 1987.
The Crnic Institute and Global work closely with key scientific leadership at the national Alzheimer’s Association including Maria C. Carrillo, Ph.D., Chief Scientific Officer and Dean M. Hartley, Ph.D., Director of Science Initiatives, Medical and Scientific Relations. The Alzheimer’s Association was key in bringing together experts from around the world to the Down Syndrome-Alzheimer’s Disease Workshop including representatives from the National Institute on Aging and the Eunice Kennedy Shriver National Institute of Child Health and Human Development.
Sponsors of the Down Syndrome-Alzheimer’s Disease Workshop