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Human Genome News, September 1990; 2(3)

Recent Studies by Mott Awardees

Since the prize-winning retinoblastoma discovery mentioned above, White and Cavenee have made other genetic research contributions. White's group has located genes for several other hereditary diseases, including von Recklinghausen neurofibromatosis; familial polyposis, a condition that predisposes an individual to colon cancer; and cystic fibrosis.

He is now conducting molecular studies aimed at characterizing products of these disease genes, and his work in developing markers is supported by the Human Genome Project. "Cancer is very close to being described on a genetic level," he said. "In just a few years, we'll know which genes are involved, their types, and how they become damaged. Then the work moves over to protein chemists and X-ray structure specialists."

White's group is now beginning to study the molecular genetics of behavioral and psychiatric diseases. White believes those studies can provide a "real insight" into psychiatric illnesses. "Genes play a role, and understanding how even a few function could clarify which biological systems are affected," he said.

Follow-up work by Cavenee's group showed that the retinoblastoma gene plays a role in bone cancers of children and several major tumors of adults. His study explains the puzzling observation that individuals who surive the eye cancer sometimes develop bone tumors later in life.

Cavenee has also located genes whose loss interrupts normal muscle cell development and leads to muscle tumors in children. His recent studies show that as tumor cells become more aggressive and more resistant to treatment, they lose additional suppressor genes. "We can now begin to consider selecting therapies according to how aggressive the tumors really are," Dr. Cavenee said, "basing treatment on number and type of genetic changes." Such an approach is now being used to treat pediatric muscle cancers and other tumors.


HGMIS Staff

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Human Genome Program, U.S. Department of Energy, Human Genome News (v2n3).

Human Genome Project 1990–2003

The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.

Human Genome News

Published from 1989 until 2002, this newsletter facilitated HGP communication, helped prevent duplication of research effort, and informed persons interested in genome research.