# GENETIC AND CYTOGENETIC STUDIES OF MENTAL RETARDATION

> **NIH NIH P01** · BOSTON CHILDREN'S HOSPITAL · 1994 · $736,734

## Abstract

We propose a program of research directed toward an understanding of the
means by which abnormalities of certain regions of the human genome cause
mental retardation and developmental defects.  The emphasis will be on
the human chromosomes X, 15 and 17, and in addition those most commonly
involved in chromosomal aneuploidy.  The research planned utilizes a wide
range of techniques including fluorescent in-situ hybridization (FISH),
molecular cloning and sequencing, cytogenetics, somatic cell genetics,
pedigree analysis and protein biochemistry, and fluorescence activated
chromosome/cell sorting.  These state of the art techniques will be used
to dissect chromosomal regions in order to isolate and/or further
characterize genes and their encoded protein products which are altered
by mutation to yield the following genetic diseases:  abnormal cognitive
development in duchenne dystrophy, Prader Willi syndrome, and Retinitis
Pigmentosa.  Toward abnormal cognitive development in duchenne dystrophy,
dystrophin will be localized in the brain and those proteins with which
it interacts isolated.  the function within normal brain may reveal
insights into normal CNS development in regard to cognitive function.
Equally important will be the gene/s in proximal 15q which are required
to be paternally inherited germinally, without which contribution there
is abnormal development resulting in Prader-Willi syndrome.  In addition,
we propose to identify and characterize those X-linked genes involved in
Retinitis Pigmentosa.  A new project is proposed which will have more
direct clinical applications.  The new project aims at improving the
current methods for prenatal diagnosis.  A novel means to detect
chromosomal aneuploidy in fetal cells detected in maternal circulation
will be enhanced, with the anticipation that such technology can be
transferred to other diseases.  Overall, we propose a coordinated effort
of studying human genetic disease, and how it impacts on normal
development and health.

## Key facts

- **NIH application ID:** 2197703
- **Project number:** 5P01HD018658-12
- **Recipient organization:** BOSTON CHILDREN'S HOSPITAL
- **SAM.gov UEI:** Z1L9F1MM1RY3
- **Principal Investigator:** LOUIS M KUNKEL
- **Activity code:** P01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 1994
- **Award amount:** $736,734
- **Award type:** 5
- **Project period:** 1983-01-01 → 1997-12-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/2197703

## Citation

> US National Institutes of Health, RePORTER application 2197703, GENETIC AND CYTOGENETIC STUDIES OF MENTAL RETARDATION (5P01HD018658-12). Retrieved via MORVS 2026-10-25 from https://api.morvs.ai/grant/nih/2197703. Licensed CC0.

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