News and Publications
TSRI Scientific Report 2003
The Institute for Childhood and Neglected Diseases
Steve Kay, Ph.D.
The Institute for Childhood and Neglected Diseases (ICND) was established
to apply cutting-edge research to understand the basic mechanisms that underlie
diseases of childhood and orphan diseases that lack efficacious treatments. Diseases
of both categories often affect populations in developing countries, where the
health infrastructure may be too poor to support major research efforts on these
Examples of such diseases include malaria, epilepsy, mental retardation,
cystic fibrosis, chronic pain, and sleep disorders. The human and economic costs
of these diseases are staggering. According to the World Health Organization,
each year, the microorganism that causes malaria infects 300 million persons,
and the disease kills approximately 1 million persons. About 90% of the people
who have malaria are in Africa, where the annual costs associated with the disease
are $12 billion. Malaria is the leading cause of childhood mortality in African
Epilepsy is another widespread and costly disease. It affects about 2.3 million
persons in the United States and accounts for $12.5 billion in medical costs
and reduced productivity each year.
Mental retardation is another condition that affects children everywhere;
about 1% of American children 3-10 years old have mental retardation. During
the 1995-1996 school year, about 600,000 6- to 21-year-olds with mental retardation
in the United States received special educational services, at a cost of about
Housed in a state-of-the-art, 54,000-square-foot building on the east side
of the TSRI campus, the ICND is a focus group within TSRI for young scientists
who are working in areas relevant to the ICND mission. The concept of the ICND
grew out of conversations in 1996 and 1997 among TSRI president Richard Lerner;
John Moores, who was interested in supporting research on illnesses that affect
people in developing countries; and the brothers Bernard and Marc Chase, who
were interested in supporting research on childhood diseases. John and Rebecca
Moores, Bill Bauce, and other automobile enthusiasts donated a number of vintage
automobiles, which were auctioned to support the ICND. The Moores went on to
contribute a valuable coin collection, as well as pledging $5 million to be awarded
over 5 years.
The Human Genome Project has led to a deeper understanding than ever before
of the mechanisms underlying human disease. The ability to study the draft mouse
and human genomes in parallel is providing an unprecedented opportunity to create
a road map for assigning a physiologic function to all of the 35,00045,000
human genes. This formidable challenge requires complex multidisciplinary approaches
that create and implement the most powerful research tools available. Investigators
at the ICND use genomics, proteomics, and advanced microscopic imaging technologies;
develop many novel transgenic animal models; and aggressively apply the technologies
in an effort to understand the mechanisms of action of a variety of diseases--malaria,
mental retardation, neurodegenerative diseases, neuropathic pain, deafness, sleep
disorders, migraines, and epilepsy, for example--and to devise treatments for
these maladies. ICND scientists plan to systematically study not only the genes
associated with these diseases but also the interactions between the genes in
ICND researchers have already been recognized by the international scientific
community during the first 2 years of the institute's existence. In December
of 2002, 3 of the highly prized Top Ten Breakthroughs of the Year of Science magazine
were results produced by ICND researchers working on the malarial genome, mechanisms
of pain perception, and processes important for sleep disorders and seasonal
depression. This remarkable level of achievement speaks to the investment made
in these research areas and bodes well for further rapid progress in the near
||AREAS OF RESEARCH
|Steve A. Kay, Ph.D.
||Molecular mechanisms of circadian rhythms and sleep disorders,
genetics of anxiety, novel targets in neurodegenerative diseases
|William E. Balch, Ph.D.
||Protein trafficking and the molecular basis for the hereditary
childhood disease cystic fibrosis
|Shelley Halpain, Ph.D.
||Organization and function of the neuronal cytoskeleton, mechanisms
underlying potential treatments for Alzheimer's disease and repair of neuronal
damage after trauma
|Mark Mayford, Ph.D.
||Molecular basis of cognitive function, including learning
and memory disabilities and mental retardation
|Ulrich Mueller, Ph.D.
||Molecular cell biology of mechanosensory perception and childhood
|Ardem Patapoutian, Ph.D.
||Ion channels and receptors involved in nociception and neuropathic
|Elizabeth Winzeler, Ph.D.
|| Functional genomic approaches to identifying targets in Plasmodium,
the parasite that causes malaria