Magazine article The Exceptional Parent

THE HUMAN GENOME PROJECT and the Medicine of the Future

Magazine article The Exceptional Parent

THE HUMAN GENOME PROJECT and the Medicine of the Future

Article excerpt

The most ambitious biological science project ever conceived is under way and will profoundly affect how medicine is practiced in the next century. This project is the Human Genome Project (HGP), and its goal is to determine the DNA sequence of every gene in the human body. The HGP is fueling rapid discoveries into the genetic basis of a wide range of conditions. By laying bare the human DNA code, scientists are creating a deep understanding of how our bodies work, an understanding that builds from the most basic level of genes.

A thorough understanding of the molecules of life promises to transform science and medicine: from molecules, scientists can better understand cells; from cells, researchers are understanding better how tissues and bodies work. The details are not easy to unravel, but researchers increasingly can trace how molecular alterations translate into physical symptoms. The HGP promises to yield insights about nearly all health problems and, ultimately, yield treatments for many conditions, whether inherited or not. Many, if not all, exceptional children will be affected by these discoveries, and some have already benefited. It is crucial that those affected by the discoveries should understand and appreciate what this project is about and how it will alter the medicine of the future.

THE GENETIC PERSPECTIVE

Genes are not everything, but they are very important. Genes are encoded within DNA, the molecule that transmits traits from parents to children. The genes that we inherit instruct our bodies in the steps necessary to build cells, tissues and organs, and how to break down food and use those breakdown products to build critical molecules to maintain health. Other genes make signaling molecules while still others make molecules that receive and process those signals. How all the components of life come together from a set of genes is like the creation of a symphony from sheet music--the creation of a harmonious whole from nothing more than spots of ink on pages of paper. Like music, the language of genes may appear simple, but in a living creature, the building blocks--or individual genes are woven together with beautiful intricacy to create a complex organism. Decoding the language or code of our genes will allow scientists to understand in detail the enormously complex set of instructions that shape a human being.

To unravel the mystery of the code, scientists study both normal and abnormal genes. In this way, the importance of each gene can be defined and the consequences of gene dysfunction understood. An understanding of how each gene works can benefit us in many ways. Knowledge about normal and altered genes will assist diagnosis and treatment of a wide range of disorders. The Human Genome Project is the first step toward understanding the function of all of our genes and how those genes affect our health.

GENES AND ACCURATE DIAGNOSIS

Even before the function of a gene is understood, knowing that a particular gene somehow causes a particular disorder can be very useful. The knowledge can be used immediately to help with the problem of accurate diagnosis. Many medical diagnoses lump together ailments that actually represent a group of overlapping, but distinct diseases. For example, cerebral palsy and autism are diagnoses that each include a tangle of conditions that are probably distinct in origins and effects. When a diagnosis includes a mixed set of conditions, a child's diagnosis does not necessarily reveal much about what kind of future that individual child is likely to have, nor how that child should be treated to minimize symptoms. Refined and accurate diagnoses lead to prognoses that are more reliable and allow more informed decisions to be made about care.

HOW KNOWLEDGE OF GENES HELPS TREATMENT

For only a relatively small number of conditions do scientists understand the molecular abnormality at the root of the condition and how that abnormality causes the disorder. …

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