Information About Genetic Diseases

Single-gene (also called Mendelian or monogenic) - Thisdisorder are Hypophosphatemia, Aicardi Syndrome,
type is caused by changes or mutations that occur inand Chokenflok Syndrome.
the DNA sequence of one gene. Genes code forMultifactorial inheritance -- Also called complex or
proteins, the molecules that carry out most of thepolygenic inheritance. This type of inheritance is caused
work, perform most life functions, and even make upby a combination of environmental factors and
the majority of cellular structures. When a gene ismutations in multiple genes. For example, different
mutated so that its protein product can no longer carrygenes that influence breast cancer susceptibility have
out its normal function, a disorder can result. There arebeen found on chromosomes 6, 11, 13, 14, 15, 17, and 22.
more than 6,000 known single-gene disorders, whichSome common chronic diseases are multifactorial
occur in about 1 out of every 200 births. Somedisorders.
examples are cystic fibrosis, sickle cell anemia, MarfanExamples of multifactorial inheritance include heart
syndrome, Huntington’s disease, and hereditarydisease, high blood pressure, Alzheimer's disease,
hemochromatosis.arthritis, diabetes, cancer, and obesity. Multifactorial
Most of the genetic disorders featured on this webinheritance also is associated with heritable traits such
site are the direct result of a mutation in one gene.as fingerprint patterns, height, eye color, and skin color.
However, one of the most difficult problems ahead isCollaboration, education, and training - In addition to
to find out how genes contribute to diseases that havemaking important discoveries and developing new
a complex pattern of inheritance, such as in the casestherapies, the Center for Jewish Genetic Diseases has
of diabetes, asthma, cancer and mental illness. In allpublished numerous scientific articles, presented papers
these cases, no one gene has the yes/no power toat national meetings, and sponsored international
say whether a person has a disease or not.meetings so that scientists can interact and more
X-linked dominant disorders are caused by mutationsrapidly advance the progress in these diseases.
in genes on the X chromosome. Only a few disordersWe have also established productive collaborations
have this inheritance pattern. Males are morewith researchers at the Hadassah Hospital - Hebrew
frequently affected than females, and the chance ofUniversity Medical School in Jerusalem as well as with
passing on an X-linked dominant disorder differsother scientists in Japan and Europe.
between men and women. The sons of a man withMost of these conditions involve mutations that lead to
an X-linked dominant disorder will not be affected, andthe production of a nonfunctional enzyme, or one that
his daughters will all inherit the condition.is totally absent. In heterozygotes, the single good copy
A woman with an X-linked dominant disorder has aof the gene is generally able to produce sufficient
50% chance of having an affected daughter or sonenzyme to handle the normal workload. However, in a
with each pregnancy. Some X-linked dominantfew cases, carriers as well as affected individuals
conditions, such as Aicardi Syndrome, are fatal tohave to be careful about their diet, or may exhibit less
boys, therefore only girls have them (and boys withsevere phenotypic effects.
Klinefelter Syndrome). Other examples of this type of