RESEARCH CONTENTS
International Research Conference Held
Participants Needed for Study that Seeks to Explore
How Adolescents with Down Syndrome Continue to
Learn Language
News: Human Genome Completely Sequenced
Research on the Neuropsychology of Down Syndrome
Scientific Symposia
Science Scholar Award
1996-1998 Science Scholar has Personal Motivation
NDSS and NICHD Sign $3.9 Million Research Agreement
Research Report: Aging and Down Syndrome
NDSS Science Advisory Board Members
INTERNATIONAL RESEARCH CONFERENCE
HELD, Oct. 2000
The National Down Syndrome Society and the Down Syndrome
Research Foundation (Canada) held the first ever joint North
American Research Conference. The New Directions in Down
Syndrome Research Conference, held October 26-27, 2000 in
Toronto, Canada, brought together an international group of 150
researchers, physicians, clinicians and educators from around the
world. Participants shared the latest in Down syndrome research
and best practices in the areas of genetics, psychobiology, health
care, aging, mental health and ethical issues, as well as the
implications of that research. More than 50 members of the Down
Syndrome Medical Interest Group met before the conference.
World-renowned researchers presented, including Janet Carr, Ph.D.
(cognitive-behavioral issues); Robin Chapman, Ph.D. (language
development); William Cohen, M.D. (updated health care
guidelines); David Cox, M.D., Ph.D. (Human Genome Project);
Digby Elliott, Ph.D. (perceptual-motor behavior); Bob Haslam, M.D.
(clinical research); Ira Lott, M.D. (aging) and David Patterson, Ph.D.
(sequencing of chromosome 21).
An awards dinner was held in Toronto, honoring:
Robert Haslam, M.D., for his compassion, dedication and
support for children with Down syndrome and their families.
Digby Elliot, Ph.D., for his research on behavior and
development in children with Down syndrome.
David Patterson, Ph.D., for his contribution to advancing
knowledge about Down syndrome, most recently through the
recent sequencing of chromosome 21.
Brian Chicoine, M.D., Dennis McGuire, Ph.D. and Sheila
Hebein, for their dedication to the health and well-being of
adults with Down syndrome with the Adult Down Syndrome
Center of Lutheran General Hospital in Illinois.
The next joint research conference sponsored by the National Down
Syndrome Society and the Down Syndrome Research Foundation
will be held in Fall 2002 in the United States.
PARTICIPANTS NEEDED FOR STUDY THAT
SEEKS TO EXPLORE HOW ADOLESCENTS
WITH DOWN SYNDROME CONTINUE TO LEARN
LANGUAGE
Robin S. Chapman, Ph.D. of the Department of Communicative
Disorders at the University of Wisconsin, Madison, is conducting a
research project to study language development in adolescents who
have Down syndrome. This project expands upon previous
research by Dr. Chapman that has shown that individuals with Down
syndrome do not stop learning language during adolescence, but
continue to develop language skills well into adulthood. Dr.
Chapman will focus on how and why certain teaching methods may
aid in language learning. Activities that your child would be asked to
participate include storytelling, new-word learning (activities are set
up as learning about magic tricks, and as learning about new
animals), several different
memory activities, and talking about pictures brought from home.
For more information about the project, please visit the following
Web site.
Participants in this study must:
Be between the ages of 13 and 18
Have normal hearing or only a mild hearing loss
Come from families where English is the primary language
spoken
Make seven visits within a two-month period (families will be
financially reimbursed for their time and travel)
Project Assistants Sally Miles and Heidi Sindberg can be reached
by phone at (608) 263-1511 or e-mai l, for scheduling or to answer
questions.
This project is funded by the National Institute of Child Health and
Human Development and the National Down Syndrome Society.
HUMAN GENOME COMPLETELY SEQUENCED
NDSS Position Statement on the Human Genome Project and
the
Sequencing of Chromosome 21
Updated, June 2000
On June 26, 2000, President Clinton, leaders of the Human
Genome Project and representatives of the biotechnology company
Celera announced the completion of a "working draft" reference
DNA sequence of the human genome. Although the draft contains
gaps and errors, it provides a valuable scaffold for generating a
high-quality reference genome sequence. Knowledge about genes
will speed the understanding of how genetics influences disease
development, aid researchers looking for genes associated with
particular diseases and contribute to the discovery of new
treatments.
One of the first chromosomes to be completely mapped was
chromosome 21, an extra copy or fragment of which is responsible
for the mental and physical characteristics of Down syndrome. After
placing an emphasis on Down syndrome research for more than 20
years, the National Down Syndrome Society applauds the work of
the international Human Genome Project in the successful
sequencing of chromosome 21. Although these findings will not
have an immediate impact on the Down syndrome community, they
will open the door to valuable research focusing on this small set of
genes.
Dr. David Patterson, a scientist on the project and chair of the
NDSS science advisory board, believes the effect of this project on
the future of Down syndrome research and treatment is enormous.
Ultimately, this research may lead to therapy and intervention to
boost cognition and prevent specific associated conditions even
after birth.
Says Dr. Patterson, "Ever since the sequencing of the superoxide
dismutase gene on chromosome 21 by Dr. Yoram Groner and his
colleagues in 1983, sequencing of the entire chromosome has been
a major research goal. Now this historic goal has been reached.
This accomplishment gives us the tools to understand Down
syndrome in ways never before possible."
According to Dr. Julie Korenberg, member of the NDSS science
advisory board and vice-chair for research, pediatrics at the
Cedars-Sinai Medical Center in Los Angeles, the findings on
chromosome 21 provide a solid basis for understanding Down
syndrome and other conditions. "We may be able to improve
function in specific areas by understanding one or a few genes,"
says Korenberg.
Understanding the Project:
Begun formally in 1990, the U.S. Human Genome Project is a
13-year effort coordinated by the U.S. Department of Energy and
the National Institutes of Health. The project originally was planned
to last 15 years, but rapid technological advances have accelerated
the expected completion date to 2003. Project goals are to:
Identify all the approximately 100,000 genes in human DNA,
Determine the sequences of the 3 billion chemical bases that
make up human DNA,
Store this information in databases,
Develop faster, more efficient sequencing technologies,
Develop tools for data analysis and
Address the ethical, legal and social issues that may arise
from the project.
Sequencing a chromosome means determining the order of millions
of chemical building blocks in DNA, the molecule that carries the
genetic code. This information will help scientists discover the
number, placement and function of genes – long stretches of DNA
that most often contain the directions for manufacturing one or more
proteins needed for growth and maintenance of health.
Chromosome 21 was the second chromosome to be sequenced by
the Human Genome Project because it is the smallest of all human
chromosomes. It is the smallest because it is gene poor. One-third
of chromosome 21 is devoid of genes, making it one of the easier
chromosomes to analyze. There are only about 225 genes on
chromosome 21, compared to 545 on chromosome 22. The
relatively low gene density on chromosome 21 is consistent with the
observation that trisomy 21 is one of the only viable human
trisomies.
The chromosome 21 gene catalog will open new avenues for
deciphering the molecular bases of Down syndrome. This
information will lead to research that could benefit both people with
Down syndrome and the general population.
For example, individuals with Down syndrome typically have some
degree of mental retardation. Now that scientists have identified
almost all of the approximately 225 genes on chromosome 21, it is
a matter of determining, through scientific study, what gene (or
group of genes) is responsible for causing that mental retardation.
Once those particular genes have been identified, treatment can
then be developed to counteract their effect, thereby reducing or
eliminating the delayed mental development.
In regard to the general public, recent scientific studies have
indicated that individuals with Down syndrome have an unusually low
risk of developing solid-tumor cancers such as lung or breast
cancer. This finding indicates that there is at least one gene on
chromosome 21 that suppresses these tumors. Isolating which gene
(or genes) produces the suppression effect may allow doctors to
suppress tumors in other individuals in the early stages of these
cancers.
This extremely significant accomplishment will lay the groundwork
for important new research on chromosome 21. NDSS will continue
to update this statement as more findings occur.
RESEARCH ON THE NEUROPSYCHOLOGY
OF
DOWN SYNDROME by Jennifer Moon, M.A. & Bruce
F. Pennington, Ph.D.
We would like to tell parents and visitors to the NDSS Web site
about a study underway that is investigating the neuropsychology of
Down syndrome. Neuropsychology is the study of the relation
between brain function and behavior, and it has important
implications for learning, memory, language and adaptive
functioning, as well as other cognitive skills. In contrast to several
other developmental syndromes, there is much that we do not know
about the neuropsychology of Down syndrome. Recently,
investigators from the University of Denver, the University of
Colorado and the University of Arizona began a long-term effort to
fill this gap in existing knowledge by testing the functional status of
three neural systems particularly at risk in individuals with Down
syndrome: the prefrontal cortex, hippocampus and cerebellum.
Although Down syndrome is generally associated with mental
retardation, the characteristic learning styles of children with Down
syndrome may differ in important ways from children with other
developmental disorders. For example, children with Down
syndrome may have particular strengths in some areas, such as
social knowledge, but relatively greater difficulty in another area,
such as memory. In addition, there is tremendous variability among
children who have Down syndrome.
Our research represents a component of a larger research program
directed by Dr. David Patterson of the Eleanor Roosevelt Institute in
Denver and chair of the NDSS Science Advisory Board, with
contributors from the Eleanor Roosevelt Institute, the University of
Colorado Health Sciences Center, Cedars-Sinai Medical Center in
Los Angeles, the University of Denver, the University of Arizona and
The Jackson Laboratory in Bar Harbor Maine. Dr. Costa, an NDSS
science scholar, is one of the contributors to this same research
program.
Other scientists in the research program are working to unravel the
genetic makeup of chromosome 21, to create 'mouse models' of
this disorder and to understand brain functions in these mouse
models. The long term goal of all this research is to develop better
treatments for Down syndrome. For instance, research on these
mouse models has already found a relation between problems in
learning and memory and a loss of cholinergic neurons. Dr. Linda
Crnic in our group is testing an experimental treatment of this
cholinergic deficit in these mice.
In our test battery we have selected neuropsychological measures of
the specific areas of brain function we are interested in. Imaging
data suggests that the brains of children with Down syndrome are
different, in a number of ways, from the brains of children who do not
have Down syndrome. We are focusing on three areas of the brain
in our research, the prefrontal cortex, which is the front-most portion
of the brain, the hippocampus, a curved structure located near the
center of the brain, and the cerebellum, which is located near the
base of the brain. Each of these parts of the brain is associated with
different mental processes. The prefrontal cortex, for example, is
typically associated with functions such as paying attention,
inhibiting impulses, planning and organization, while he
hippocampus is associated with long-term memory. The cerebellum
has generally been associated with motor functions, including
balance and coordination, but more recently, researchers have
begun to look at the role of the cerebellum in learning and attention.
All of our measures are 'pencil and paper tasks' or they are
administered using a special touch screen computer. The
responses of participating children and their families have been
quite positive. The children report that they have enjoyed the
experience and, at
the same time, they have provided us with valuable information
about learning styles associated with Down syndrome.
Principal investigators on the neuropsychology project are Dr. Bruce
Pennington, from the University of Denver, and Dr. Lynn Nadel, from
the University of Arizona. Dr. Pennington has worked in the field of
childhood and developmental disorders for more than 20 years, and
has written extensively on topics including autism, ADHD,
dyslexia, and mental retardation. Dr. Nadel heads the Department of
Psychology at the University of Arizona, and his research
concentrates on the role of brain structures in learning and memory,
with a particular focus on learning and memory for spatial tasks.
Our hope in defining the learning profile of Down syndrome is to
provide a 'cognitive phenotype' for the syndrome which can
eventually be 'mapped' onto chromosome 21. Understanding the
relation between the gene and its neuropsychological outcome will
allow parents, educators and clinicians to refine interventions and
educational efforts for children with Down syndrome, and it may
provide medical professionals and researchers with useful
information in developing treatment tools.
Recently we've had some contact from clinicians in the field
inquiring about our project, which led us to believe that it was
important to share information about our project with the Down
syndrome community at large. To date, the neuropsychological
study has been centered in the Denver area, working closely with
the Mile High Down syndrome Association. Information about
individual participants and their families is kept strictly
confidential. Nonetheless, the investigators do offer special thanks
to the Mile High families who have participated in the study. We are
committed to serving the Down syndrome community through our
research efforts and have enjoyed working with each of the children
who has completed the study. If you have any questions about this
project, please contact Jenny Moon at 303-871-4434. Time and
funding permitting, we hope to travel to a number of cities throughout
the country, and local parent groups are encouraged to call if they
feel that a number of their member families might be interested in
participating or if they would like to learn more about the study.
SCIENTIFIC SYMPOSIA
In an attempt to increase communication among the world's most
distinguished scientists who are working in fields related to Down
syndrome, NDSS hosts international scientific conferences on
relevant research topics. The proceedings of these conferences are
published and distributed worldwide. To date, NDSS has hosted ten
Scientific Symposia.
SCIENCE SCHOLAR AWARD
Since 1983 NDSS has awarded research grants ("scholarships") to
promising postdoctoral scientists who have demonstrated
extraordinary skill and achievement in seeking a better
understanding of Down syndrome. Twenty postdoctoral researchers
thus far have received $35,000 a year for two years to support their
research. The scholarship program is currently being revised and
will not be offered in the year 2000. Funds will be available under the
restructured program in 2001.
1996–1998 SCIENCE SCHOLAR HAS
PERSONAL MOTIVATION
Each evening when neuroscientist Alberto Costa, M.D., Ph.D.,
returns home from the laboratory where he works to understand the
functions of specific genes along the 21st chromosome, he is
greeted by the baby girl who inspires him.
Dr. Costa's daughter, Tyche, was born with Down syndrome one
year ago and has brought a renewed sense of purpose to his
research.
"I am working for my daughter," said Dr. Costa, explaining that
Tyche was named for the Greek goddess of good fortune. He and
his wife, Daisy, chose the name before the birth of their daughter,
which had followed two lost pregnancies. "We were very excited
when we realized that this child was going to make it to term. We felt
that she is a gift of good fortune."
If Dr. Costa is successful in unraveling the mysteries of the 21st
chromosome, it could open the doors to pharmacological
intervention that would benefit thousands of individuals with Down
syndrome. "Then," Dr. Costa continued, "Tyche would truly live up to
her name."
Dr. Costa, one of most talented and promising neuroscientists in the
nation, is the 21st recipient of the National Down Syndrome
Society's prestigious Science Scholar Award. As a Science
Scholar, he received a two-year salary grant of $60,000.
He was selected by the NDSS Science Advisory Board, following a
nationwide evaluation of highly qualified applicants. Science
Advisory Board Chairman Charles Epstein, M.D., explained that the
Board was duly impressed with Dr. Costa's previous
accomplishments, proven talent and proposed research strategy.
"Dr. Costa has demonstrated considerable knowledge of the
neurophysiology of Down syndrome, and he certainly is motivated,"
said Dr. Epstein, of the Department of Pediatrics at the University of
California in San Francisco.
Working with mice that were developed as genetic models of Down
syndrome, Dr. Costa is studying the effects that an extra copy of
specific genes has on the functions of the brain. Individuals with
Down syndrome have three copies, rather than two, of the 21st
chromosome, although it is not known exactly which genes on this
chromosome are responsible for the specific characteristics
associated with this condition.
Dr. Costa, who has dedicated the last eight years of his career
studying electrophysiology and molecular biology in relation to the
brain and nervous system, is performing his research study at the
Jackson Laboratory and Mount Desert Island Biological Laboratory
in Bar Harbor, Maine, in collaboration with Senior Staff Scientist
Muriel T. Davisson, Ph.D.
Dr. Costa earned his medical degree from the State University of
Rio de Janeiro, Brazil, and his doctorate in biophysics from the
Federal University of Rio de Janeiro. In addition, he had several
years of postdoctoral training in Pharmacology and Neuroscience,
at the University of Maryland and Baylor College of Medicine. Dr.
Costa has earned numerous awards and his work has been
published extensively in scientific journals.
NDSS AND NICHD SIGN $3.9 MILLION
RESEARCH AGREEMENT
The National Down Syndrome Society (NDSS) and the National
Institute of Child Health and Human Development (NICHD) have
entered a $3.9 million partnership that will result in the largest sum
of
funding ever earmarked for Down syndrome research.
This partnership between NDSS, NICHD and National Institute of
Neurological Disorders and Stroke (NINDS) is designed as a
matching program whereby NDSS will add $600,000 over three
years to an anticipated $3.3 million in funding from NICHD and
NINDS.
The funds will be allocated in the form of grants to individual
researchers and organizations conducting research in areas to
include Down syndrome- specific cognition, behavior and related
therapies. Grant application information is now available through the
NIH Website.
To obtain more information:
National Down Syndrome Society
666 Broadway, 8th Floor New York, NY 10012-2317
Telephone: (212) 460-9330
Information & Referral: (800) 221-4602
Fax: (212) 979-2873
E-mail: info@ndss.org
RESEARCH REPORT: AGING AND DOWN
SYNDROME
By Warren Zigman, Ph.D.
First in a six-part series updating the progress of the Down
syndrome research being funded by the joint NDSS, NICHD,
NINDS grant.
Due to improved public health practices in the twentieth century,
there has been a dramatic increase in the average life span of
Americans and other people throughout the world. Essentially, we
see the same trend for adults with Down syndrome, but they still
have a shortened life expectancy.
Currently, the average life expectancy of people with Down
syndrome is 55 years and it is unusual for individuals to reach age
65. The fact that some adults with Down syndrome are living to be
65, 70 or older may mean that longer lives are possible for many
others with Down syndrome – if only we can understand what makes
the "oldest-old" individuals with Down syndrome different from the
rest.
This is the overall goal of a five-year research project just begun by
myself and my colleagues at the New York State Institute for Basic
Research in Developmental Disabilities (IBR) and at Columbia
University (CU), and funded by the National Down Syndrome
Society, the National Institute of Child Health and Human
Development (NICHD) and the National Institute of Neurological
Disorders and Stroke (NINDS).
If all goes well, we will identify health, genetic and behavioral factors
associated with longevity and "successful" aging of adults with
Down syndrome. A particular emphasis will be placed on risk of
Alzheimer's disease, a major cause of debilitating dementia that
affects individuals' memories and functional abilities.
Research has shown that virtually all adults with Down syndrome,
over the age of 40, have some of the neuropathological changes
characteristic of Alzheimer's disease but only some of these
individuals develop dementia. By understanding why some
individuals are able to avoid dementia, we may discover how to
treat and prevent old-age associated declines.
The "Oldest-Old" project is the newest component of a large Aging
Research Program currently underway at IBR, also funded by
NICHD and by New York State. These efforts should help us to:
Understand "normal" and "abnormal" aging patterns;
Develop methods for diagnosing dementia;
Identify health concerns for older adults with mental
retardation;
Investigate changes in women's health during and after
menopause; and
Determine the dementia-associated changes in the brains of
individuals with Down syndrome.
When this larger research program is completed in five to six years,
we should have a much better understanding of how aging affects
adults with mental retardation and how the demand for geriatric
services can be anticipated. In turn, this knowledge will provide a
basis for more effective program planning and improvements in
prevention and treatment of problems like dementia.
In addition to myself, the other scientists working on this project are:
Drs. Darlynne Devenny, Edmund Jenkins, Pankaj Mehta, Nicole
Schupf, Wayne Silverman, Jerzy Wegiel and Henry Wisniewski at
IBR and Drs. Richard Mayeux, Benjamin Tycko and Dorothy
Warburton at CU.
Dr. Warren Zigman is a research scientist at the New York State
Institute for Basic Research in Developmental Disabilities and the
recipient of a joint NDSS, NICHD, NINDS grant to support Down
syndrome research. The grants are made possible by a historic
$3.9 million partnership of the three agencies. For further
information on these projects contact Warren B. Zigman, Ph.D.,
New York State Institute for Basic Research in Developmental
Disabilities, 1050 Forest Hill Road, Staten Island, New York
10314-6399.
( Last Updated March 2, 2001 – www.ndss.org
Entire Contents Copyright © 2001, National Down Syndrome Society,
All Rights Reserved.
NDSS, 666 Broadway, New York, NY 10012 - (212) 460-9330 )
E-MAIL at: robeng@ix.netcom.com