September 17, 2006, Updated September 12, 2012

Dr. Eli Sprecher: If you can discover the gene associated with a rare disease, you can find what the gene’s protein is doing to cause the disease.Eli Sprecher likes to get under your skin – or at least under the surface. The associate professor of dermatology at the Technion Israel Institute of Technology has become a leading expert in hereditary skin diseases.

A member of the Human Molecular Genetics and Pathophysiology of Disease department of the Technion’s Rapaport Institute of Research, Sprecher focuses on rare skin diseases that generally plague children, an occurrence that he says is more common among Israel’s minority populations.

Those diseases are often overlooked by the medical research community due to their rare occurrence, but Sprecher has taken upon himself the task of identifying the causes of the diseases and looking for treatment, cures and preventive actions.

“Hereditary skin diseases are extremely prevalent in Israel, especially in the north where there are a large number of small and closed ethnic communities. You see a lot of hereditary diseases there, many of them being orphan diseases,” Sprecher told ISRAEL21c.

“Orphan diseases are extremely rare, but in closed in groups, you see substantial numbers. But because they’re rare, and not generally known to regular physicians, they’re not recognized by clinics or insurance companies. Genetic testing is also extremely problematic – as most labs don’t find it worthwhile to set up testing. So we’re trying to help the patients at all these levels.”

Sprecher, who was born in Belgium, came to Israel in 1981 and studied medicine at Hebrew University, receiving his PhD in biology. After serving in the Israel Defense Forces, he specialized in dermatology at Rambam Medical Center.

“In 1999, I did a fellowship at Thomas Jefferson University in Philadelphia, and when I returned to Israel, I established a lab in the Rambam Department of Dermatology,” he said.

The two main diseases Sprecher’s department deals with are epidermal epidermolysis bullosa and ichthyosis.

Epidermolysis bullosa (EB) is a group of inherited bullous disorders characterized by blister formation in response to mechanical trauma. EB patients have skin as fragile as a butterfly’s wing which can blister at the slightest touch – even from a mother’s cuddle. Normal day-to-day life can cause constant pain and scarring, which, in the worse forms, leads to eventual disfigurement, disability and often early death.

EB is an inherited disease that affects less than 10,000 children and adults in the United States. People born with EB lack anchors that hold the layers of their skin together. As a consequence, any activity that rubs or causes pressure produces a painful sore akin to a second-degree burn.

Ichthyosis is a family of dermatological conditions. Its literal translation is “fish skin”, since people with ichthyosis have scaly skin which can vaguely resemble the scales of a fish. The conditions are caused by genetic abnormalities. Most types of ichthyosis are present at birth, and are life-long.

“They’re both very severe diseases with no effective treatment, and they often affect children, which means lifelong suffering,” said Sprecher.

Sprecher and his team travel frequently to villages in the north of the country to do field work and genetic testing.

“One level of our genetic testing is preventive – we’ll do prenatal diagnosis for families of children who already have one of the diseases, and the likelihood of the unborn baby getting it is high. We also go to learn about the families in the hopes of discovering clues in our research,” he said.

“While spreading services to the community is our prime motive, we’re also interested in research. Most skin diseases are caused by a defect in one single gene. If you can discover the gene associated with a rare disease, you can find what the gene’s protein is doing to cause the disease.”

Research by Sprecher’s team recently succeeded in deciphering the genetic basis of a rare disease known as Naegeli syndrome, which features congenital absence of fingerprints. Their work is scheduled to be published in the October issue of the prestigious American Journal of Human Genetics.

Fingerprints have been known for more than a century as the most distinctive feature of human beings; not two individuals, even identical twins, share the same fingerprint pattern. But those who suffer from Naegeli syndrome don?t have fingerprints.

“Naegeli syndrome is a disease we’ve never seen in Israeli families – it’s found mostly in the US, England and central Europe. It was identified at the beginning of the 20th century and its major feature is lack of fingerprints and high pigmentation. Our search for the gene that causes Naegeli’s is a long story – it began in 1999 during my post doc work,” said Sprecher. “We couldn’t find it, but in the end it was under our nose.”

Two members of Sprecher’s group, Gabriele Richard and Peter Itin, assembled an extraordinarily large cohort of patients and Jennie Lugassy, a graduate student in Sprecher’s lab, was able to determine that the disease results from abnormal function of a well-known protein named Keratin 14.

“Keratin 14 had been known for years to be associated with a skin disease very different from Naegeli syndrome, which is why abnormal function of this protein was not considered for so many years as the cause of Naegeli syndrome. Keratin 14 is part of the cell cytoskeleton; in most diseases arising from defective function of this protein, cells become overly sensitive to mechanical stress, and as a result, skin blistering occurs.”

According to Sprecher, the defect in Keratin 14 causing Naegeli syndrome is unique in that it does not lead to skin fragility but rather induces programmed cell death in the upper skin layers, which explains the unusual features of the disease such as absence from birth of fingerprints and impaired sweating ability.

Sprecher and his team are continuing to search for a connection between the absence of fingerprints and enhanced programmed cell death, and dermatologist is confident more clues will be found under to shed new light on the mysteries under the skin.

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