By Carol Guzman
This year, Rare
Disease Day falls on the rarest day on the calendar: Feb. 29. Rare Disease Day
helps raise public awareness about rare diseases and the impact that they have
on patients’ and loved ones’ lives. Though an international event, it’s led in
the U.S. by the National Organization for Rare Disorders, or NORD.
According to a 2019 study, there
are more than 6,000
rare diseases around the world, and over 72% of
them are genetic. Rare diseases affect people all around the world, but a
person’s ancestral and genetic background can affect the likelihood that they
carry certain rare conditions. It is estimated
that at least 1 in 4 people of Jewish descent are carriers for so-called Jewish
genetic conditions, which received their name because individuals with Jewish
ancestry carry changes for these diseases 20 to
100 times more frequently than among the general population. A majority of
the 51 Jewish genetic diseases included on the Sarnoff Center’s carrier
screening panel qualify as “rare” diseases because they affect fewer than 200,000 people
in the U.S.
In honor of Rare
Disease Day, we hope to bring light to two perhaps lesser known Jewish genetic disorders:
Gaucher disease and Canavan disease.
type 1 is the most
prevalent inherited disorder among people of Jewish decent. One
in 15 people of Ashkenazi Jewish ancestry and 1
in 125 people of Sephardic Jewish ancestry are carriers for Gaucher. The
disease itself affects 1 in 500
Jewish people of Ashkenazi descent.
For comparison, the
better known Tay-Sachs disease has a carrier frequency rate of 1
in 27 among Ashkenazi Jews and 1
in 125 among Sephardic Jews.
occurs when a mutation in the GBA gene harms an enzyme’s ability to break down certain
fat molecules, which can lead to toxic levels of the fat building inside the spleen,
liver and bone marrow cells. There are various Gaucher disease types because
the accumulation of the fat molecule can affect the brain and body in various
ways. Gaucher symptoms include a swollen belly, bone pain, anemia and
bleeding or bruising. Because these symptoms are so common and vague, many cases
of Gaucher go misdiagnosed.
of recessive disorders are generally healthy and do not often experience
symptoms of the conditions, studies indicate that carriers with a specific
mutation for Gaucher disease may also have an increased risk of developing Parkinson’s
that has one of the highest carrier frequency rates in the Jewish population is
Canavan disease. One
in 57 people of Ashkenazi Jewish ancestry are carriers for Canavan, versus 1
in 159 people in the general population. Various mutations in the ASPA gene stop
brain nerve cells from properly sending or receiving information, causing a
slow degradation of the brain’s white matter. Children with the disorder
typically have a larger head, poor motor skills, weak muscle tone, and difficulty
eating and sleeping. Modern medicine can treat Canavan’s symptoms, but there is
U.S. Food and Drug Administration-approved cure or treatment for Canavan
Canavan disease is not an outlier. More than 90% of rare diseases do not have an
FDA-approved treatment. On March
4, patients, their families, and medical professionals will be going to Springfield,
the Illinois state capital, to meet with Illinois legislators and advocate for
better opportunities and care for rare disease patients. See how you can get
involved in raising awareness of rare diseases and how you can support more
million affected people around the world at rarediseaseday.org.