GENETICISTS NEED GENEALOGIES AND GENEALOGISTS

Much of genetic research is on non-infectious human disease or disorders that are caused in a major way by a damaged gene. Most of the genes we inherit are normal functioning, but occasionally for reasons not entirely understood, a mutation or change in a gene will occur somewhere in the production of germ cells that will lead to the resulting conceptus or fetus acquiring a less than perfect gene. If the genetic damage is severe, a person might die before birth. If it is relatively benign, lifespan might be normal. A major objective of genetic research today is to determine where on our specific chromosomes are located these genes that can be damaged, and what is their specific molecular structure. Further great interest is determining the proteins each gene makes, and thus understanding what protein is not properly constructed because a gene is defective. With this information, which is coming now at an exponential rate, geneticists and medical scientists can begin to understand genetic predispositions to genetic disease that manifests itself after birth or even later in life, such as many forms of cancer. Furthermore with this understanding, they can begin to devise a variety of treatments that will lessen the burden of the disease or perhaps even cure it over an individual's life time. This is the promise of genomic research and these are exciting times.

Geneticists need large genealogies of families showing these genetic afflictions. Usually the larger the pedigree or family history, the better. Studying each member of the pedigree, determining his or her status with respect to the defective gene or genes, and studying associated molecular polymorphisms, geneticists can determine the chromosomal location and position on that chromosome of the defective gene. The next time you go to the archives and use a microfilm reader, look over at the individual next to you reading a census record. He or she may be a geneticist.

But geneticists and physicians are not necessarily trained as genealogists. Therefore, often, genealogists will be found as part of the team interviewing the families and developing the pedigree prior to molecular analysis. In many cases an incorrect pedigree can confound the research and lead to false conclusions. Genealogical scholarship in medical genetic research is thus important.

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