# SOMATIC CELL GENETIC STUDIES OF DOWN SYNDROME

> **NIH NIH P01** · ELEANOR ROOSEVELT INST FOR CANCER RES · 1994 · $1,618,742

## Abstract

Down Syndrome is the most common genetic cause of major mental
retardation in the United States, affecting approximately 300,000
individuals and their families.  In addition to mental retardation,
individuals with Down Syndrome are also subject to many other
developmental problems.  For example, roughly half have characteristic
congenital heart disease.  They have a 20 to 40-fold increased risk of
developing leukemia.  As they age, they are likely to develop Alzheimer
Disease.  Down Syndrome is caused by the presence of an extra copy of
chromosome 21 or rarely an extra copy of a smaller region of chromosome
21.  Moreover, other aneuploidies of regions of chromosome 21 are also
associated with specific genetic/developmental disorders, and single gene
defects in specific genes on chromosome 21 can lead to mental retardation
or other defects.  An excellent example is autosomal recessive
cystathionine beta synthase deficiency, which leads to profound mental
retardation, vascular problems, and ocular problems.  Since all the
deleterious aspects of Down syndrome are seen in the general population
in individuals without detectable chromosome anomaly, understanding these
problems in individuals with Down Syndrome promises to have a very wide
overall health relevance.  Over the past 10 years, a major focus of
research on down syndrome has been the generation of chromosome 21 maps
which serve as a framework to analyze which genes and regions of the
chromosome are involved in which aspects of Down syndrome and other
chromosome 21 defects.  This Program Project played a major role in the
development of these maps, and in the characterization of a small number
of genes associated with, or likely to be associated with, chromosome 21
diseases.  The Program Project has evolved to the point where its goals
are much more directly oriented to specific aspects of the phenotype of
Down Syndrome and how these arise.  Investigations are now proposed to
take advantage of the physical map, the phenotype map, and unique animal
models related to Down Syndrome to specifically isolate and characterize
the functions in mammalian development of genes responsible for aspects
of Down Syndrome including mental retardation (Korenberg, Kraus,
Patterson, Gardiner), immune deficits (Jones), leukemia (Drabkin), heart
disease (Korenberg, Gardiner), and in the isolation of new genes from
chromosome 21 which may play a role in these diseases (Kao, Korenberg,
Gardiner).  The proposed studies take advantage of a virtually unique set
of patient derived cell lines and of transgenic and aneuploid mouse
technologies as well as modern molecular methods and reagents such as
Yeast Artificial Chromosomes and fluorescence in situ hybridization
technologies.  We anticipate that this evolution of the Program Project
will result in new, clinically significant information at an increasing
pace over the next 5 years which will have a significant impact on our
understanding of human health and developmen...

## Key facts

- **NIH application ID:** 2197445
- **Project number:** 5P01HD017449-11
- **Recipient organization:** ELEANOR ROOSEVELT INST FOR CANCER RES
- **Principal Investigator:** DAVID PATTERSON
- **Activity code:** P01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 1994
- **Award amount:** $1,618,742
- **Award type:** 5
- **Project period:** 1993-01-01 → 1997-12-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/2197445

## Citation

> US National Institutes of Health, RePORTER application 2197445, SOMATIC CELL GENETIC STUDIES OF DOWN SYNDROME (5P01HD017449-11). Retrieved via MORVS 2026-10-25 from https://api.morvs.ai/grant/nih/2197445. Licensed CC0.

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