Cystic Fibrosis

Cystic fibrosis is a hereditary disease that affects the lungs and digestive
system. The body produces thick and sticky mucus that can clog the lungs
and obstruct the pancreas.

Cystic fibrosis (CF) can be life-threatening, and people with the condition tend
to have a shorter-than-normal life span.

Sixty years ago, many children with CF died before reaching elementary
school age. However, advances in treatment mean that people with CF often
live into their 30s, 40s, and beyond.

Cystic fibrosis (CF) involves the production of mucus that is much thicker and
more sticky than usual.

It mainly affects the lungs and digestive system.

CF is a hereditary condition that occurs in a child when both parents have the
defective gene.

Tay-Sachs disease
The genetic condition known as Tay-Sachs is carried by about one in every 27
Jewish people, and by approximately one of every 250 members of the
general population. The condition is caused by a chromosomal defect similar
to that of Down syndrome. Unlike Down syndrome, however, Tay-Sachs
results from a defect found in chromosome #15, and the disorder is
irreversibly fatal when found in children.

Tay-Sachs disease gradually destroys the nervous system, frequently

resulting in death by age five. Adults can also be diagnosed with Late-Onset
Tay-Sachs disease, which causes a manageable level of diminished cognitive
ability. While detecting Tay-Sachs can be accomplished by using enzyme
assay methods or DNA studies, an option does exist to prevent the risk
entirely.

Assisted reproductive therapy techniques can be conducted that test in-vitro

embryos for Tay-Sachs before implanting them into the mother. This can allow
only healthy embryos to be selected.

Marfan syndrome

Marfan syndrome is an inherited disorder that affects connective tissue — the

fibers that support and anchor your organs and other structures in your body.
Marfan syndrome most commonly affects the heart, eyes, blood vessels and
skeleton.

People with Marfan syndrome are usually tall and thin with disproportionately
long arms, legs, fingers and toes. The damage caused by Marfan syndrome
can be mild or severe. If your aorta — the large blood vessel that carries
blood from your heart to the rest of your body — is affected, the condition can
become life-threatening.

Treatment usually includes medications to keep your blood pressure low to

reduce the strain on your aorta. Regular monitoring to check for damage
progression is vital. Many people with Marfan syndrome eventually require
preventive surgery to repair the aorta.