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Scientists make groundbreaking discovery of mutation causing genetic disorder in humans

Posted: May 15, 2012 |   Comments

A case against genetic modification? A case against vaccination?

Scientists at A*STAR's Institute of Medical Biology (IMB), in
collaboration with doctors and scientists in Jordan, Turkey, Switzerland
and USA, have identified the genetic cause of a birth defect known as
Hamamy syndrome[1]. Their groundbreaking findings were published on May13th in the prestigious journal Nature Genetics. The work lends new insights into common ailments such as heart disease, osteoporosis, blood disorders and possibly sterility.
2. Hamamy syndrome is a rare genetic disorder which is
marked by abnormal facial features (Annex A) and defects in the heart,
bone, blood and reproductive cells. Its exact cause was unknown until
now. The international team, led by scientists at IMB, have pinpointed
the genetic mistake to be a mutation in a single gene called IRX5.
3. This is the first time that a mutation in IRX5 (and the family of IRX
genes) has ever been discovered in man. IRX5 is part of a family of
transcription factors that is highly conserved in all animals, meaning
that this gene is present not only in humans but also in mice, fish,
frogs, flies and even worms. Using a frog model, the
scientists demonstrated that Irx5 orchestrates cell movements in the
developing foetus which underlie head and gonad formation.

Read more: http://www.a-star.edu.sg

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