Archive for July, 2017

2017 Awardees Announced at the Annual National Down Syndrome Congress Convention in Sacramento, CA Include 9 Global Member Organizations from 8 States

On July 20, 2017 the Global Down Syndrome Foundation (Global) awarded $75,250 to 9 organizations in 8 states through itsEducational Grants program, one of two unique membership grant programs offered by Global.  The grants were announced at the NDSC Annual Convention, which attracted nearly 4,000 attendees in Sacramento, CA. To date, Global’s Educational Grants have provided $475,250 to over 50 innovative programs developed by Down syndrome organizations across the nation.

“The local Down syndrome organizations who have received our Educational Grants have made an amazing impact in their communities improving the lives of thousands of individuals with Down syndrome,” said Michelle Sie Whitten, President & CEO of Global. “We are proud to foster growth and provide resources to even more local organizations this year.”

Global’s 2017 Educational Grants fund nine programs in eight states: California, Connecticut, Delaware, Florida, New Jersey, North Carolina, Texas, and Wisconsin.

The 2017 Educational Grant recipients and their funded programs are:

Global is proud to count over 900 members made up of local, state, national, and international Down syndrome organizations. Advantages of Global membership benefits include access to two competitive grant programs: Self-Advocate Employment Initiative Grants and Educational Grants. Educational Grants up to $10K fund innovative grant programs for education professionals, self-advocates, medical professionals, parents and caregivers, and beyond.

“We are grateful for the support of the Global Down Syndrome Foundation as we continue our mission to help individuals with Down syndrome realize their full potential. This grant helps us teach and empower teens and adults with Down syndrome on business ventures, which will conclude with a showcase to highlight their micro-enterprises,” said Janet Caramello, Executive Director of the Down Syndrome Association of Central Florida.

Eligibility to be awarded Educational Grants is just one of the benefits of Global membership. To learn about other member benefits and to become a member please visit the membership page.

Contact:
Global Down Syndrome Foundation
Kathy Green
KathyGreen.Consultant@GlobalDownSyndrome.org
303 321 6277

Miley Cyrus and Jamie Brewer support Global

Dr. Tom Blumenthal, former Executive Director, will continue to mentor and advise

DENVER (Jul 11, 2017) – The Linda Crnic Institute for Down Syndrome (Crnic Institute) at the Anschutz Medical Campus (AMC) names former Associate Director for Science Dr. Joaquín Espinosa as its incoming Executive Director.  In addition to his role at Crnic Institute, Dr. Espinosa is a Professor in the Department of Pharmacology at the University of Colorado Denver School of Medicine, the co-Leader of the Molecular Oncology program at the University of Colorado Cancer Center, and the founding Director of the Functional Genomics Facility at the University of Colorado.

 

Dr. Tom Blumenthal, a molecular geneticist, is stepping down as the Crnic Institute’s Executive Director but will continue to consult and advise.  Dr. Blumenthal was recruited to the institute five years ago from his post as the Chair of the Molecular, Cellular and Developmental Biology Department at the University of Colorado at Boulder.

“It was not easy to convince Tom to join us in building the first academic home for Down syndrome research in the country,” said John J. Sie, founding donor of Crnic Institute. “We knew that he was who we wanted to lead Crnic, he just didn’t know he wanted that too.”

Dr. Blumenthal was eventually persuaded and his background in both academic leadership and science enabled him to establish the Crnic Institute as the leading Down syndrome research organization nationally and globally.   He established the groundbreaking Crnic Grand Challenge grant program – a strategy he employed at his previous positions first at the AMC and then the Boulder campus of the University of Colorado to attract the best and brightest scientists.  The grant program has succeeded in attracting some of the best and brightest to Down syndrome research at the Crnic Institute, including the researcher he eventually hoped would replace him, Dr. Joaquín Espinosa.

“I was frankly surprised and delighted a couple of years ago when Joaquín agreed to become Associate Director for Science,” commented Dr. Blumenthal. “Now it just seems like a natural progression for him to take the reins.”

“Since joining the Crnic Institute and working in collaboration with the teams at the Sie Center and Global Down Syndrome Foundation I have learned so much from my colleagues and mentors including Michelle Sie Whitten and Dr. Blumenthal,” 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 improving the lives of people with Down syndrome. I am grateful for the opportunity to continue on the path that Dr. Blumenthal established at Crnic as its new Executive Director.”

“Tom and the people he recruits not only have brilliant minds, but brilliant hearts,” said Michelle Sie Whitten, President and CEO of the Global Down Syndrome Foundation. “Today Tom and Joaquín have built a team of 33 labs and over 100 scientists all dedicated to improving the lives of people with Down syndrome. The actual discoveries being made – including Joaquín’s work allowing us to recast Down syndrome as an immune system disorder – is truly astonishing. And we can all thank Tom for the therapies and cures that will eventually result from the great science and medical care at the Crnic  Institute.”

Dr. 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.  Dr. Espinosa’s current work is an ambitious, first of its kind, discovery accelerator platform call the Crnic Institute Human Trisome Project^TM that scientists believe will unearth treatments and even cures to conditions like Alzheimer’s disease, certain cancers, and auto-immune diseases that disproportionately affect the Down syndrome community.

Dr. Blumenthal will remain as a senior advisor contributing to Crnic Institute’s life-changing research and his lab focusing on RNA mechanisms will continue its valuable work while he semi-retires to spend more time with his family traveling and enjoying the Colorado outdoors.

About the Global Down Syndrome Foundation
The Global Down Syndrome Foundation is a public nonprofit 501(c)(3) dedicated to significantly improving the lives of people with Down syndrome through research, medical care, education and advocacy. Formally established in 2009, Global has the primary focus of supporting the Linda Crnic Institute for Down Syndrome, the first academic home in the U.S. committed to research and medical care for people with the condition, and the Anna and John J. Sie Center for Down Syndrome at Children’s Hospital Colorado, the largest multi-disciplinary team in the U.S. providing medical care for people with Down syndrome. Fundraising and government advocacy that corrects the alarming disparity of national funding for people with Down syndrome is a major short-term goal. Global organizes the Be Beautiful Be Yourself Fashion Show — the single-largest annual fundraiser benefiting people with Down syndrome. Global organizes and funds many programs and conferences, including the Dare to Play Football Camp with Ed McCaffrey, Global’s Denver Broncos Cheerleaders Dare to Cheer Camp, the Global Down Syndrome Educational Series, and the Dare to Play Soccer Camp. Global is an inclusive organization without political or religious affiliation or intention.

About the Linda Crnic Institute for Down Syndrome and the Anna and John J. Sie Center 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.

Could factors that prevent the formation of new blood vessels in the lungs account for the high prevalence of pulmonary disease in infants with down syndrome? The answer could have far-reaching implications that extend beyond lung health.

Conditions such as underdeveloped lungs, known as pulmonary hypoplasia, and high blood pressure in the arteries of the lungs, known as pulmonary arterial hypertension (PAH), occur in approximately 20 percent of children born with Down syndrome, according to data collected by Csaba Galambos, M.D., Ph.D., a pediatric pathologist in the Children’s Hospital Colorado Department of Pathology and Laboratory Medicine and Associate Professor of Pathology at the University of Colorado School of Medicine.

A group of researchers led by Dr. Galambos is exploring, for the first time, why individuals with Down syndrome are more susceptible to these conditions. His lab has hypothesized that central to the development of pulmonar y hypoplasia and PAH is the suppression of the process that prompts the growth of new blood vessels, a chain of events called angiogenesis. Their discoveries could lead not only to therapies for pulmonary disease in individuals with Down syndrome, but also to treatments that may improve lung development and function in all patients.

A DOUBLE-EDGED SWORD

Dr. Galambos’ fascination with angiogenesis began y ears ago, he read a paper by late angiogenesis r esearcher Judah Folkman, M.D., of Harvard University. Dr. Folkman’s research showed that solid tumors depend on newly formed blood vessels for their growth. Overexpression of chemical signals that block the process — known as angiogenesis inhibitors — may occur in people with Down syndrome. According to Dr. Galambos, that protective property may come with a downside in the form of pulmonary underdevelopment and dysfunction.

“Chromosome 21 has many genes that act as anti-vascular or antiangiogenic factors,” he said. “In people with Down syndrome, there is an excess of anti-angiogenic factors that could significantly block normal vessel development in all organs, including the lungs. Our goal is to explore a previously unrecognized role of the chromosome 21-specific anti-angiogenic factors that may lead to lung immaturity and increase the risk for severe PAH in infants and children with Down syndrome.”

MODELING ANGIOGENESIS

Using banked lung tissue samples, Dr. Galambos and colleagues created a number of different models to re-create angiogenesis and observe the effects of its impairment.

“We measured the messenger RNA expression levels of 84 angiogenesisrelated genes in Down syndrome fetal lung samples and typical controls, and we also looked at microscopic signs of impaired lung vascular growth,” Dr. Galambos said. “Not only did we discover that three potent chromosome 21-related anti-angiogenic factors are overexpressed significantly in the lung in utero, we also identified two other potent anti-angiogenic factors with significant overexpression that were unrelated to chromosome 21. Significantly, our analysis showed features of impaired vascular growth in these lungs.”

The next step for Dr. Galambos and his group was to develop cell-culture and animal models in which they could further test the effects of anti-angiogenesis.

“There are Down syndrome mouse models that carry three copies of portions of chromosome 21,” Dr. Galambos said. “We are excited that we are able to show, for the first time, that one of these models develops features characteristic of impaired lung development seen in the lungs of humans with Down syndrome.”

Dr. Galambos plans to use the mouse model to fur ther investigate the unique ways that Down syndrome affects angiogenesis, as well as the anti-angiogenic pathways that may play a role in abnormal pulmonary development and function. A 2017 C rnic Institute Grand Challenge Grant underwritten by the Global Down Syndrome Foundation will support his work. Dr. Galambos believes this research could produce findings — and point the w ay to novel therapies — that are applicable not only to patients with Down syndrome, but also to individuals in the gener al population with pulmonary hypoplasia and PAH.

THE NEXT FRONTIER?

Even as he explores the role of angiogenic impairment in lung disease, Dr. Galambos is pondering the possibility that it could also affect cognition in individuals with Down syndrome.

“It is well known that proper angiogenic signals are required for optimal nerve growth, supporting intellectual development,” he said.

“In Down syndrome and Alzheimer’s disease, nerve development and function are compromised. It has been shown that the thre edimensional vascular network of the brain is impaired in Alzheimer’s disease. It’s a realistic possibility that impaired angiogenesis not only causes underdeveloped lungs and PAH, but may also affect the development and function of neural networks of the brain in people with Down syndrome.”

Dr. Galambos believes a future in which clinicians use angiogenic therapies to treat lung disease and improve cognitive function in people with Down syndrome is possible — and he is doing his part to accelerate its arrival. 

NEW INSIGHT INTO NEONATAL HYPOXEMIA

Infants born with lung disorders who do not respond to advanced respiratory therapies usually have low blood oxygen content, or hypoxemia, according to Csaba Galambos, M.D., Ph.D., a pediatric pathologist in the Children’s Hospital Colorado Department of Pathology and Laboratory Medicine and Associate Professor of Pathology at the University of Colorado School of Medicine.

Dr. Galambos and his colleagues recently identified a group of blood vessels in infants with hypoxemia, including those with Down syndrome, that permit nonoxygenated blood to enter the lungs, therefore contributing to potentially life threatening hypoxemia. Now, they want to learn how these vessels function.

“Our next step is to design animal models that can help identify the regulating mechanisms that open and close these vessels in lung disease, including pulmonary arterial hypertension (PAH),” Dr. Galambos said. “These data will allow us to test interventions that aim to close the vessels, and that will lead to better oxygenation, less severe lung disease, and improved survival of infants with lung disorders, including PAH.”

Csaba Galambos, M.D., Ph.D., a pediatric pathologist in the Children’s Hospital Colorado Department of Pathology and Laboratory Medicine and Associate Professor of Pathology at the University of Colorado School of Medicine, has received many notable grants to further his research into the links between lung disease and Down syndrome, including:

2014–2016 Jérôme Lejeune Foundation Grant, $39,000 “Role of Impaired Angiogenesis in the Pathogenesis of Severe Cardiopulmonary Disease in Children with Down Syndrome”

Role: Principal Investigator
2017 Crnic Grand Challenge Grant, $50,000 “Overexpression of Anti-angiogenic Genes Impairs Lung Development in Dp16 Mice”

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