A genetic disease is a disorder caused by a mutation that is either inherited or arises spontaneously. The battle against genetic disease is fought on many fronts. For most people though, it is best fought on a personal front, by gathering information in order to make informed choices about individual health and the health of loved ones.
Genetic information is widely available now, even available online. Anyone can get an assessment of their risk for certain genetic disorders, and couples can learn the risk of any potential children inheriting certain diseases.
People from families with members with mental retardation, members with spina bifida or related disorders, or Downs or related chromosomal abnormalities, may want to find out about their genetic heritage. So may people whose families include people with cleft palate, cystic fibrosis, or PKU. Couples who have suffered multiple miscarriages or stillbirths will also want to investigate their heredity.
If either potential parent has a genetic disorder, there is reason to check the genome. Also, members of certain ethnic groups, and those whose families are from certain areas, are at higher risk for some genetic disorders. Examples of these would be certain Jewish populations which are at higher risk for Tay-Sachs disease, certain African populations which are at higher risk for sickle cell disease, and certain Mediterranean and Asian populations which are at higher risk for thalassemia.
Another group whose members may want to do personal genetic research is composed of people descended from small isolated populations or populations with a relatively high degree of consanguinity. Thalassemia is very common in the population of the Maldives, and a form of Huntington’s is common in an isolated population in Venezuela. Such groups may be at higher risk of genetic disease.
Another front in the battle against genetic disease is the struggle to help those already living with genetic disorders. In medicine, great things have already been accomplished. PKU (Phenylketonuria), for example, used to cause irreversible retardation and seizures in all of those who inherited it. Now such children have a very good chance at a pleasant and useful life. This is due to the work of Dr. Asbjorn Folling, whose careful observation discovered and charted the mechanism of the disease.
We have treatments, of course, for many of the genetic disorders. What would be even better would be outright cures through genetic repair. Scientists are on the track of such cures. Because DNA is so fragile, and is recopied so many times in each life, organisms have a variety of mechanisms to deal with DNA damage. Perhaps one day, science will learn to harness some of these mechanisms, and win more battles in the war against genetic disease.
https://www.23andme.com/
http://www.ninds.nih.gov/disorders/spina_bifida/detail_spina_bifida.htm
http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/genetics/counsel.html
http://www.ornl.gov/sci/techresources/Human_Genome/publicat/genechoice/contents.html
http://www.ornl.gov/sci/techresources/Human_Genome/medicine/assist.shtml
http://www.pkunews.org/
http://books.google.com/books?id=5B0k-LUDjVEC&pg=PA43&lpg=PA43&dq=Huntington%27s+disease+cluster&source=web&ots=SD0_fGtBIY&sig=D8QZAm2Heg-NHqZg9jdctYBxhvk&hl=en&sa=X&oi=book_result&resnum=3&ct=result
http://www-personal.ksu.edu/~bethmont/mutdes.html
