Hubler history W. R. Hubler, Jr., M. D

Genes: The Past, Present and Future 2001

"The past is prologue..."
Debate has divided the scientific community for years about the roles of environment and genetics on the final form of human beings. Much of the dickering is rooted in economics as jingoists feud about who can control the individual, make the biggest buck and grasp the glory--Freudian psychoanalysts or practical psychiatrist, social activist or fatalist, conventional medicine or alternative healing, etc. However, obviously, the truth resides with a foot in each arena, and the reality is composed of both the environment and heredity.

For a long time, the impact of environment on an individual has been recognized as a major factor in the eventual outcome. In the early part of this century, Freud crystallized the understanding of environment with his revelations on psyche and development. Modern buzzwords, such as, parental abuse, sexual depravation and emotional stress, fill the milieu of the modern mind. Perhaps, people can better deal with something they have a chance to change (environment), rather than the finality of fate (genes). Maybe the layperson can better understand his environment than he can comprehend the scientific morass and medical jargon of genes and chromosomes. Nevertheless, for whatever reason, our genetic "roots" have not gained the recognition or understanding that they should have received.

In the 1960's and 1970's, men and women in America spent time in introspective analysis and often sought help from roadside religious healers, professional gurus, mysterious Eastern cultists, psychoanalysts, dinner circuit hucksters and astrological quacks.

In the hurly-burly world of the 1980's, Americans sought quick fixes to complex problems, mostly with drugs, and invested little time to studying the past, instead opting for "living one day at a time.”

In the 1990's, the “in-your-face” confrontation continued, and by 2000 and early 2001, although individualism continued, sensitivity to genetic and cultural differences reached a peak as American acceptance and even encouragement of such divarication advanced. However, the terrorist attack on Sept. 11, 2001 on the Twin Towers in New York and the Pentagon in Washington changed the American mental panorama. The total effect of the havoc and its longevity has yet to be shown, but the effect was to unify the populace of America, to encourage hegemony and to disparage diversity. The populace seemed more supportive of the use of deadly force against the enemies of America and the willingness to abrogate personal freedom in order to gain safety from further attack and to punish those foes. Whether this counter-punch bellicosity will persist is unknown, but it is clear that terrorism has devastated the societal mentality and changed the psychological landscape of America, perhaps forever. Unforeseen benefits of the terror were an unprecedented emotional and monetary support for the victims and an increased cohesiveness of family, both real and extended. Love arose from the ashes.

In the last two decades, there is a renewed awareness of the effects of genes on development. Frisson fills the scientific community as the recognition of the importance of genes finally filters down to the lay populace. Certain diseases have been linked to specific gene alterations, which had been developed originally hundreds of years earlier and been passed on by generations of unaffected individuals. That is especially true of early immigrants in North America who unsuspectingly married relatives. Considering the paucity of fellow settlers and the isolated closeness of neighbors, it is obvious that intermarriages were common. Usually the unwritten admonition against incest and first generation marriages held fast, but often boys would marry the neighbors' girls and vice versa, and their respective children would marry their cousins, thus inadvertently reducing the gene pool.

Genetic susceptibility to some diseases, such as, alcoholism, cancer, arthritis and psychoses has been discovered; and the exposure to initiating co-factors, such as, alcohol, cigarettes, influenza, etc. allowed the development of the maladies in genetically predisposed individuals. Thus, environmental influence may be inextricably tied to genetics, and many disorders are etiologically multifactorial.

Modern scientists are able to diagnose many carriers of defective genes in prenatal situations by amniocentesis and in children and adults by genetic mapping of serum or tissue samples. Some inherited disorders can be corrected by supplying another gene source, such as, bone marrow transplants or neonatal brain implants into adults or replacing missing biochemicals, such as, amino acids or vitamins. Gene cloning and manipulation are commonplace in the animals and plants that we eat, and will soon be more often used in humans. Choosing an offspring with certain anatomical traits (hair color and form, eye color, height, weight), sexual preference, sexual proclivity, intelligence, emotional status, immunological strength and more. Even the dead can re-live. Genetic material can be inserted in-utero to reproduce dead humans. The book and movie, Jurassic Park, publicize the real possibility of resurrecting plants and animals from past generations from preserved genetic material.

Now, it begins. In June 2000, a public-private collaboration named “The Genome Project” announced the identification and mapping of the human genome. This scientific project took over a decade, a series of super-computers and much individual hard scientific work. In February 2001, the human genome in its entirety was released, and surprisingly, human chromosomes only contain about 30,000 genes, a number not much more than fruit flies, and there is very little variance between racial groups. Much of the chromosomal space is composed of just intermittent, empty spaces, and genetists probably will have to investigate the spatial relationship of the genes and the resultant phenotypes. The breakthrough opens the medical, pharmaceutical and genealogical door to a diagnostic, therapeutic and identification marvel and an ethical morass. Where does it stop? Master physicist, Albert Einstein, once observed, “It is appallingly obvious that our technology exceeds our humanity.”

In short, genetic situations are not an unbending part of life, and humans can, after all, alter the effects of heredity. Human beings can be genetic activists. The role of environment should not be downplayed, but the importance of heredity should be better recognized. A devastating or a serendipitous environment may define fate, but destiny is limited by heredity.

Never a truckling gender, women have an equal importance in the hereditary of each individual. After all, each mother provides one-half the genetic make-up of each child. Females also gave much to their offspring in the environmental realm. Presbyopic people think that the role of the female in a clan was subservient and inconsequential, and it was true at first, especially in urban areas; however, in early, rural America, the niche of the female was as a homemaker, procreator, child caregiver and partner with (rather than servant of) her mate against the vicissitudes of their environment.

Wives' names are often lost in records, but that was not because they were unimportant. The American legal system of the time was based on owning land and taxation, and those legalities were the bailiwick of men (women could not own land, vote, sue, or hold office), and thus male surnames have been perpetuated. Now many countries (such as, Mexico) require its citizens to retain each maternal name as part of their own, a trend beginning in America with "hyphened" names. In a time and place of few white males and fewer white females, women did not stay unmarried long, and women changed names as they re-married, further confusing the genealogical trail.

However, a gender gap existed; and although narrowing, the fissure still persists. Women in the 17^th and 18^th centuries were trained by their mothers and were expected to perform “wifely chores”—manage the home, clean the house and clothes, milk the cows and collect eggs, cultivate a garden, clean game, cook meals, make all clothes, dress and feed all the members of the family, nurse all illnesses and injuries, have many children, raise a bunch of kids, take in family members (on both sides) for rearing and coddle her man at the end of the day. Women were not even supposed to enjoy sex—sex was just a “duty,” and pregnancy was expected to be a constant state. Childbearing was so important in some cultures that marriages were delayed until after intimacy and pregnancy, thus guaranteeing fertility. The man’s role was that of a supplier—food (cultivating farmland, catching and shooting game), money (from labor or job), trainer (of his sons for work) and sperm (children). Since the legal system was male oriented, he recorded legal descriptions, etc. Few could write--the courthouses are filled with their “marks.”

Things began to change, slowly in the 1800’s. Populations increased (an escalating female/male ratio and the subsequent decreasing demand for women), medicine improved (more accessibility to trained physicians and a better understanding of disease led to longer life and a decreasing birth death rate) and urbanization (jobs changed from the masculine hunter-gather role). As all these factors and more evolved, more women sought employment (especially as teachers, seamstresses and secretaries). Many were “old maids” who sought self-reliance, but most also hoped for a husband. Few women wanted equality with men. The man’s role was unchanged, as long as, his wife continued her family responsibilities. After all, the independence and jobs that women sought did not interfere with his position as supplier.

However, in the 20^th century, women progressively impinged on the classic male-female roles—women successfully challenged all male-oriented jobs [from those that require brains (e.g., professionals, such as, judges, physicians, pharmacists and accountants) to those with brawn (e.g., physical laborers, policemen and firemen), to those corrupt (e.g., politicians and lawyers) to the last bastion of maleness (combat military person)]. Birth control and abortions were legal and common. Almost half of American households in the 1990s had single parent providers, and in over half, the housewife worked. It was unusual to find a couple with an intact marriage vow—couples often got a divorce or never married in the first place. Even federal taxes discriminated against married workers with the so called “marriage penalty.” Frequently, artificial insemination and in-vitro fertilization allowed men to be sperm donors for the convenience of a busy woman. Women were expected to enjoy sex. Voting was not gender restricted. Women gained legal equality with men. Laws were signed, initiated, judged and enforced by women. Some would say that all of that was “women’s lib (beration),” while others would describe it as “long-overdue equality.” However, a gender chasm still existed in salaries—women were paid less than men doing the same job are. Men at times also performed the traditional female “jobs,” such as, child rearing and housecleaning. In this report, the surname, HUBLER, is traced; but a maternal history is included in the body of the paper whenever possible.

The latest addition to the genealogists’ armamentarium is the investigation of inheritance by mapping the DNA of ancestral groups. The extraction of material from fossilized remains and its DNA analysis has been used to trace the movements of prehistoric hominids; and now by comparing the data from similar DNA mapping of specimens from living individuals, genealogists plan to draw huge, complex family trees. Already, projects have been devised to collect DNA from huge, random numbers of people to prove heredity groups. It is doubtful that such mass DNA mapping techniques will replace traditional genealogical methods, such as, reviewing land and census records, but they might be prodigious supplements to establishmentarian methods and to vault over “brick walls.” Of course, such revelations might raise issues of privacy, such as, inheritance, employability and insurability. Mitochondrial DNA is limited to maternal inheritance and thus gives a unique opportunity to track maternal lines, while nuclear DNA is inherited from both parents.

Despite the safety net of kin, to be successful, family members have to move on. Migration and diversification are necessary to increase the gene pool, to prevent stagnation in extended family connections and to tackle new situations, foes and allies. An oracular, old Native American Osage tocsin is apropos, “If you want to see the light, leave the shade of the tree.” The HUBLERs (as well as most Colonial Americans) journeyed west. However, they often brought family and extended family with them for strength and unity. They probably followed the saying, “An acorn never falls far from the tree.” Nevertheless, the success of the HUBLERs and other migrating groups against seemingly insurmountable odds is remarkable, and perspicaciousness.

I am disabled with Friedreich’s ataxia, which is an autosomal recessive genealogical neurological disorder. The disease usually begins at puberty with subtle changes in proprioception, progresses to wheelchair use by 20 years of age and eventuates in early death, all while leaving mental function unaffected. The inheritance pattern means that the abnormal gene might have been altered thousands of years earlier (carriers are unaffected), and it is not until two carriers with the flawed gene have offspring that the disease manifests itself. Friedreich’s ataxia affects 1 in 50,000 or fewer Americans. Intermarriage dramatically increases the incidence and was commonplace in immigrant families. Common heritage, religion, language, sparse population and isolation bound the immigrants together in life and genes. Intermarriage was so common that following a genealogical string is like unrolling a huge ball of twine with many intersecting knots. There were cousin intermarriages on both my paternal and maternal lines; however, there was neither direct ancestral consanguinity nor mixing of genes between my parental and maternal families. Anyway, my original search for HUBLER family members who had symptoms of Friedreich’s ataxia was non-revealing, but the history of disease was scant. In the last several weeks, I found out that one of the cousins in my HUBLER family tree has developed middle-aged onset ataxia. Because there was not a known cause for the ataxia and because there was a distant family member with Friedreich’s ataxia (me), genetic screeens for ataxia were performed. The results showed a single mutated gene compatable with a Friedreich’s ataxia carrier state, which confirmed that the HUBLERs unknowingly harbored the gene for generations before the malady finally mauled me.

I was addicted—my interest in genealogy was under way. Divergent dictums crammed my cranium. One short-sighted pundit warned, “Don’t look back, something might be gaining on you,” but sapient Winston Churchill said, “The farther backward you look, the farther ahead you can see.” Joni Mitchell in her song, The Circle Game, warns that we are all trapped in the carrousel of time; and although we can never return, we can observe where we came. Implicit in the lyrics is sagacious and predictive advice. Genealogists have been accused of traveling in the past lane,¹ but everyone can plot a better course for the future, if they know where they have been, as well as, where they are.

Those who cannot remember the past are condemned to repeat it.

History might not repeat itself, but fools often repeat history.