September 16th, 2015 by Global Down Syndrome Foundation
Joan Medlen is a registered dietitian and DS expert who has published 2 popular books promoting healthy lifestyles for people who are differently-abled.
Global Down Syndrome Foundation
Fall 2015 Education Series
November 20-21, 2015
The Global Down Syndrome Educational Series was launched in 2006 and brings nationally and internationally renowned Down syndrome experts to Colorado for two full days of lectures. The first day is designed for professionals who impact the lives of individuals who have Down syndrome, and the second is for parents and caregivers. Topics focus on accurate and updated medical, educational, and therapeutic best practices.
Global’s Educational Series has featured the following speakers: Dennis McGuire, PhD • Dr. Fran Hickey • Libby Kumin, PhD • Patti McVay • Brian Chicoine, MD • H. Len Leshin, MD • Jennifer Meyers Bekins, MS • Sue Buckley, OBE • Pat Winders • William I. Cohen, MD
Joan Guthrie Medlen, MEd, RDN, LD
Joan Guthrie Medlen is an award-winning registered dietitian who focuses her work on promoting healthy lifestyles for people with Intellectual and Developmental Disabilities. Her specialty is Down syndrome. She began her career as a generalist in local community hospitals, but soon found her love of working with families and children with Down syndrome after the birth of her son, Andy, 26 years ago. Inspired by her experiences with her son’s educational team, Joan returned to college to receive a Master’s in Education in 2010.
“We are more alike than different – especially when it comes to food.” – Medlen
Joan’s career is quite varied and includes writing two books, “Down Syndrome Nutrition Handbook,” and “Cooking by Color: Recipes for Independence”; developing the Healthy Athletes Health Promotion Program for Special Olympics; teaching; as well as having a robust private practice. To learn more about Medlen visit her website DownSyndromeNutrition.com.
Fall 2015 Education Series – Registration Now Open!
Date: November 20-21, 2015
Location: Marriott Denver Tech Center
Professionals: Friday, November 20 – Nutrition and Lifestyles for Children, Teens, and Adults Who Experience Down Syndrome – and Their Families. (Continuing Education Units available)
Family Day: Saturday, November 21 – Food, Feeding, and Family with Down syndrome in the Mix. (Simultaneous Spanish translation available)
For questions about the Education Series please call 303-468-6663 or email email@example.com
September 9th, 2015 by Global Down Syndrome Foundation
Crnic expands and strengthens with new Associate Director, Dr. Joaquin Espinosa. This addition creates the largest team of Down syndrome researchers in the world.
Global Down Syndrome Foundation Will Help Fund Espinosa’s Vision as the Newly Appointed Associate Director of Science
Acclaimed cancer medical researcher, professor and scientist Joaquín Espinosa, Ph.D., has been appointed to the newly created position of Associate Director for Science at the Linda Crnic Institute for Down Syndrome at the University of Colorado Denver School of Medicine (UCD-SOM) in the Anschutz Medical Campus.
Tom Blumenthal, Ph.D., Executive Director of the Crnic Institute commented, “There were other departments and centers vying to hire Joaquín but in the end it was the allure and potential of Down syndrome research that convinced him to join us. In this position, he knows he has the chance of helping millions of people. Joaquín is not only a cancer expert he is a brilliant and big idea scientist. He is an expert in the basic molecular biology of gene expression, and an accomplished genomicist. We are lucky to have him.”
Espinosa’s team (The Espinosa Lab) has moved from the University of Colorado Boulder to the Department of Pharmacology at UCD-SOM in Aurora, where Espinosa will hold a full professorship. His team will continue investigating diverse cancer genes, while also focusing on the remarkable fact that the population with Down syndrome has a much lower risk of developing solid tumors.
In his new position overseeing science at the Crnic Institute, Espinosa is tasked with expanding beyond the existing Crnic Grand Challenge Grants program that has stimulated 28 labs and nearly 100 scientists to work on Down syndrome research at the University of Colorado. He will foster growth in key areas such as Alzheimer’s disease, cancer, autoimmune disorders and clinical research in association with the Sie Center for Down Syndrome at Children’s Hospital Colorado. He will also work on establishing public-private-university alliances to stimulate research that benefits people with Down syndrome.
Global Down Syndrome Foundation, the fundraising, education and outreach arm of the Crnic Institute, helped raised funds to enable the recruitment of Espinosa and will make fundraising for his scientific vision a priority.
“The Global Down Syndrome Foundation is proud to have Dr. Joaquín Espinosa join our prestigious group of scientists at the Crnic Institute for Down Syndrome,” said Michelle Sie Whitten, President and CEO of the Global Down Syndrome Foundation. “The combination of his scientific achievements and his passion for helping people with Down syndrome makes Dr. Espinosa a perfect fit for our Global family.”
“I am very excited to join the Crnic Institute and work in collaboration with the teams at the Sie Center and Global Down Syndrome Foundation,” said Espinosa. “It is rare to find this perfect combination of a research institute, a clinical care operation and a powerful non-profit agency working in close coordination toward a common goal. I am confident that we will advance biomedical research in the area of Down syndrome and the associated co-morbidities in major ways.”
Previously Espinosa held the position of Associate Professor of Molecular, Cellular and Developmental Biology at the University of Colorado Boulder, where he will continue as a Visiting Associate Professor. He will also continue as the University of Colorado’s Director of The Functional Genomics Facility and as the Co-Leader of the Molecular Oncology Program at the University of Colorado Cancer Center.
Espinosa obtained his Ph.D. from the University of Buenos Aires in Argentina and did post-doctoral training at The Salk Institute for Biological Studies in La Jolla, California. In 2009, he was appointed as an Early Career Scientist of the Howard Hughes Medical Institute, a nonprofit medical research organization that plays a powerful role in advancing biomedical research and science education in the United States.
In addition to being an advocate for people with Down syndrome, Espinosa is also a contributor to The Huffington Post, an avid rock climber, skier and outdoorsman.
Global Down Syndrome Foundation is a public non-profit dedicated to significantly improving the lives of people with Down syndrome through research, medical care, education and advocacy. Formally established in 2009, Global’s primary focus is to support the Linda Crnic Institute for Down Syndrome, the first academic home in the United States committed solely to research and medical care for people with Down syndrome. Headquartered at the University of Colorado School of Medicine on the Anschutz Medical Campus, the Crnic Institute includes the Anna and John J. Sie Center for Down Syndrome at the Children’s Hospital Colorado.
September 8th, 2015 by Global Down Syndrome Foundation
Karen Chang, PhD uses $300,000 grant co-funded by Global, Crnic Institute and Alzheimer’s Association to examine age-dependent memory loss
Global is dedicated to supporting research focused on the important relationship between Alzheimer’s disease and Down syndrome. To this end, Global has co-organized and co-funded the Down Syndrome-Alzheimer’s Disease Investigator Program with the Crnic Institute and the national Alzheimer’s Association.
In 2013, Karen T. Chang, PhD, received one of the grants and was awarded $300,000 to study the functional protein interactions in Alzheimer’s disease and Down syndrome.
In August of 2015, the results of the research co-funded by Global were published in the distinguished publication The Journal of Neuroscience. Chang along with Jillian L. Shaw and Shixing Zhang used fruit flies to study the mechanisms underlying age-dependent memory impairment. Their results show the fly homolog of the Down syndrome critical region 1 is important for normal short-term memory (STM) and interacts genetically with the amyloid-precursor protein (APP) to protect against APP-induced STM defects. In addition, the results indicate that Nebula upregulation also effectively protects against APP-induced long-term memory defects.
The scientific world now understands nearly all people with Down syndrome will have the “brain pathology” of Alzheimer’s disease by the time they are in their 40s (i.e. they will have the plaques and tangles in their brain that appear in the brains of typical people with Alzheimer’s disease). The question intriguing the scientific field is why only an estimated 50 percent will get the actual symptoms of dementia associated with the disease. If scientists can understand what is protecting this population from dementia they may be able to identify targets or even a cure for Alzheimer’s disease.
In 2012, Global helped to recruit the world renowned Alzheimer’s disease scientist, Huntington Potter, PhD to the Crnic Institute. Dr. Potter is integral to the collaboration with the national Alzheimer’s Association. In addition, Global helped Dr. Potter to establish the Rocky Mountain Down Syndrome Alzheimer’s Disease Research Center with a subspecialty in Down syndrome.
Donate to the important Alzheimer’s Disease Initiatives
supported by the Global Down Syndrome Foundation.
September 8th, 2015 by Global Down Syndrome Foundation
Congress Poised for a Vote on Education Reform This Fall
The U.S. Senate and House of Representatives have each passed versions of bills that have the potential to vastly change public education for children who are differently-abled, including those with Down syndrome. Here’s what parents and advocates need to know.
Since 2007, Congress has been looking to reauthorize the Elementary and Secondary Education Act (ESEA), a law that has existed since 1965 but was most recently reauthorized in 2002 as the No Child Left Behind Act. Widely unpopular, No Child Left Behind has been criticized for taking an outdated approach to education and for applying federally mandated, one-size-fits-all teaching and accountability standards that don’t work for all children.
In July 2015, the House of Representatives passed H.R. 5, the Student Success Act (SSA), and the Senate passed the Every Child Achieves Act (ECAA) as answers to the problems of No Child Left Behind. Both bills would give states and individual schools more control over teaching standards and hold them more accountable for student success.
The Senate’s ECAA passed with a strongly bipartisan vote of 81-17, while the House’s more partisan SSA barely passed with a vote of 218-213. Although SSA had strong Republican support, no Democrats voted for it.
The Title I Debate
One of the biggest differences between the two bills is Title I portability, or how schools receive funding for students who are differently-abled.
Title I is the section of ESEA that requires schools to provide a high-quality education to children “at a significant disadvantage,” whether physical, developmental, or socioeconomic. The title outlines standards schools must meet so these disadvantaged students achieve the same academic standards as their peers. It’s also the section of ESEA that defines failing or low-achieving schools.
The federal government allocates a certain amount of money each school year, known as Title I funds, to help schools meet these requirements and also avoid earning a failing grade. Title I funds must be used for very specific purposes and, depending on the school, may be used only for designated groups of students. Currently, those funds are distributed to districts that serve a high number of students with special needs, a classification that includes students who are differently-abled and those with Down syndrome.
The Senate’s ECAA doesn’t include any changes to this funding structure, but the House’s SSA does. Under the SSA’s proposals, instead of being calculated based on the number of such students in a school district, the funds would be calculated based on how many attend a given school. That money would also become portable — if a student changed schools, the money allocated for him or her under Title I would follow.
Democrats oppose this, arguing that Title I funds would wind up in well-performing schools and leave poorly performing schools without the money they need to improve. Republicans see Title I portability as a way to grant parents more choice in what school their child attends and as a solution to some of the barriers schools face in how those funds are used.
Improvements Possible With Both Bills
Despite the disagreement over Title I funding, both bills are viewed as an improvement over the current ESEA. In addition to giving states and local school districts accountability for student success, the bills:
• Require states to set levels of achievement for all students, including those who are differently-abled; the SSA would let states set one single achievement standard for all students, while the ECAA would charge states with developing low, middle, and high level standards.
• Include students who are differently-abled in mandated reading, math, and science assessments
• Allow states to develop their own teacher evaluation programs and provide resources to improve the professional development of teachers
This fall a conference committee will try to reconcile the two bills into one. Legal experts believe the ECAA stands the greatest chance of becoming law. However, the White House, civil rights groups, education associations, and key politicians all want to make changes to the way ECAA handles accountability before taking the next step — and Republicans say they will not support a reauthorization of ESEA without Title I portability.
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.