A very rare syndrome called “Hamamy Syndrome” offers a lot of genetic insight into what causes blood disorders, heart disease, and other complications. Scientists have discovered that mutations in a single gene can cause the syndrome. Click below to read full story.
It is extremely rare for a child to born with Hamamy syndrome, but the gene that causes it may hold the key to common health problems.
Scientists have discovered that mutations in a single gene cause a child to be born with wide-set eyes, protruding ears, sloping shoulders, fragile bones and the inability to produce tears, according to research published in Nature Genetics.
Scientists at A*STAR’s (Agency for Science, Technology and Research in Singapore) Institute of Medical Biology (IMB), in collaboration with doctors and scientists in Jordan, Turkey, Switzerland and USA, isolated the genetic flaw that causes Hamamy syndrome.
It was the first time that a defect had been found in that particular gene, in a human.
The discovery proved how important that gene was in the developments of humans in the womb.“We believe that this discovery could open up new therapeutic solutions to common diseases like osteoporosis, heart disease, and anemia which affect millions of people worldwide,†said Dr. Bruno Reversade, senior principal investigator at IMB.
“The findings also provide a framework for understanding fascinating evolutionary questions, such as why humans of different ethnicities have distinct facial features and how these are embedded in our genome.â€
The syndrome was named for Hanan Hamamy, the professor of genetics who discovered the syndrome in 2007.Only a few people in the world are born with the disease.
