Background & History

It has been known since antiquity that many human afflictions occur more frequently in certain families but their basis remained a mystery. In the early part of the 20th century some rare disorders were found to follow predictable hereditary patterns suggesting that their cause was due to the transmission of factors from parents to offspring. These factors, which we now call genes, had been found previously in plants and other animals. At about the same time, new knowledge regarding human biochemistry and metabolism provided important insights into mechanisms by which errors (or mutations) in genes produced disease.

At the beginning of the 21st century, the discipline known as medical genetics reached an important milestone with the deciphering of the human genome.  For the first time, it became possible to identify the specific genes responsible for disease.  Further, we learned how to isolate these genes and to study how mutations disrupt normal bodily processes and cause disease.  These breakthroughs have resulted in huge advances in our general understanding of how the human body functions. 

kids & dog

Windows of Hope is based on the science of genomics, that is, how normal and abnormal genes function.  The identification of a gene that causes disease is of immediate benefit to patients and families who are at risk.  But it also enables the development of gene testing protocols which can provide fundamental insights into disease processes.  This broader task requires digging deeper into biochemical reactions within cells to help us understand why our bodies react as they do.  Medical science primarily advances from detection of a disease, through a determination of its cause, and ultimately to prevention and treatment.  It is not yet possible in most genetic diseases to directly correct mutations.  At the present time it is still most important to focus on an understanding of gene action in an effort to develop an effective treatment aimed at some correction of the mutated gene's damage.

Extensive field work was necessary in the early phase of the WOH investigations in order to gather information on patients and families.  As the project matured, more extensive laboratory investigations were undertaken, requiring worldwide collaborative efforts where more specialized techniques and expertise were available.  Due to the complex nature of many of the cellular reactions being studied, these are lengthy investigations and results are slow to accumulate.  It is expected that field work and laboratory studies will continue for many years. 

The project, Windows of Hope, was founded in 2000 with the specific aim of finding certain specific mutant genes known to cause several forms of spastic paraplegia discovered in Holmes County, Ohio in the 1960s.  By 2003, two new mutations were identified which immediately led to advanced (and ongoing) studies into the cellular mechanisms of nerve cells whose dysfunction leads to a wide range of progressive neurological disorders.  In the meantime, word of yet other neurological disorders in Geauga County, Ohio, led to expansion of WOH in 2001 into that community leading to the identification of more mutations. Because many families in Holmes and Geauga have connections to those living in Northern Indiana, WOH began studies in Indiana in 2005 and has since also identified the genetic basis of new diseases in this community.

amish children

 

Windows of Hope (WOH) is a population-based medical project dedicated to the detection, characterization, and treatment of inherited health problems.  It is focused on the application of new knowledge and advances in the fields of genomics and medicine that are making it possible to prevent and treat certain genetic disorders through a better understanding of human physiology and how genes work.

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