Chromosomes & the Mind

Of the nine children born to Joseph and Rose Kennedy, one is President of the U.S., but Daughter Rosemary, 44. has spent half of her life in a special nursing home because she is mentally retarded. The Kennedys used to think that Rosemary's plight was something to hide, but Old Joe finally decided. "It's best to bring these things out in the open." He lavishly endowed the Joseph P. Kennedy Jr. Foundation, which has spent $17 million on care for the retarded and research into the causes of their handicap.

Last week, with most of the Kennedys looking on, the President handed out the foundation's first awards for outstanding achievement. The story of the awards was buried under a layer of headlines about Jack Kennedy's first public appearance with Adlai Stevenson since the furor over Stevenson's role in the Cuba crisis, but the caliber of the men who were honored and the depth of their work made important medical news. The winners, whose work began in the esoteric reaches of genetics:

-- Dr. Ivar Asbjo/rn Fo/lling 74, now retired, received $25,000. As head of biochemistry at Oslo's University Hospital, he was the first doctor to pay attention to a woman who reported that the urine of her two retarded children had a strangely pungent odor. Dr Fo/lling took the trouble to find out why: the children's urine contained phenylpyruvic acid. As a result of his work, it is now known that because of a genetic defect, such children lack an enzyme essential to the metabolism of phenylalanine, a constituent of most protein foods. Within a few weeks after birth, phenylpyruvic acid inflicts permanent damage on the brain. But now the defect can be promptly detected, and children started early on a special diet escape nearly all the brain damage.

-- Dr. Joe Hin Tjio (pronounced Chee-o), 43, now at the National Institutes of Health in Bethesda, Md., a citizen of The Netherlands and a native of Indonesia. While doing cancer research at the University, of Lund in Sweden, Tjio and

Dr. Albert Levan grew human cells in laboratory flasks and devised a technique for using their lab-cultured cells to get a far clearer picture of the chromosomes inside them than had ever been available before. They counted and recounted the chromosomes. The total came to only 46 --though for 30 years scientists had been certain that the human species had 48. Touched off by the revolutionary Tjio-Levan discovery, six hectic years of work on chromosomal abnormalities have already revealed clear links with some physical and mental disorders. Dr. Tjio got a personal award of $8,333 but no cash for his research, because the U.S. Government is already financing it.

-- Dr. Jerome Jean Louis Marie Lejeune, 36, of Paris, went to work with Tjio's techniques and soon found that victims of mongolism, who suffer varying degrees of mental retardation, have 47 chromosomes. Dr. Lejeune also reported recently that mongoloids have a metabolic abnormality that works in the opposite way from phenylketonuria. Partly because of the extra chromosome, their systems produce too much of an enzyme that breaks down tryptophan, an essential component of proteins involved in the functioning of the brain. Dr. Lejeune's award: $8,333, plus $25,000 for research.

-- Dr. Murray Llewellyn Barr, 54, at the University of Western Ontario, was busily studying the cells in the hypoglossus (tongue-controlling nerve) of the female cat when he realized that a little dark spot in each nucleus was never found in the cells of males. Then he learned that this was true of all mammals, including man. Now, a tiny pinch of skin or mucous membrane, examined under the microscope, will show the true, or nuclear, sex. Only such a test will indicate whether a child with a sex-chromosome abnormality should be raised as a boy or a girl, and what surgery is indicated. With abnormal chromosomes, mental retardation is often present. Dr. Barr also got $8,333 PIus a $25,000 grant for research.

For contributions to the development of the special techniques needed for teaching the mentally retarded, Educator Samuel A. Kirk won a $25,000 award plus $50,000 for the University of Illinois' Institute for Research on Exceptional Children, which he heads. A $50,000 grant to the National Association for Retarded Children for "awakening the nation to the problems and for proving in countless ways that the retarded can be helped," brought the total gifts from the Kennedy Foundation to $225,000. Each award winner also received a soaring Gothic form in crystal, engraved with a figure of the seraph Raphael (the name means "God heals") holding a child in his arms.

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