Marfan researchers find reason for optimism

(Republished with permission from the St. Louis Post-Dispatch. This article originally ran in the Oakville-Mehlville Journal on August 3, 2005.)

By Buck Collier
Of the Suburban Journals

Those little white lab mice are fast becoming the best friends of researchers looking for a more effective treatment of Marfan Syndrome.

Injected with the defective gene that causes Marfan in humans, the mice show remarkably similar characteristics – unusually long limbs, weakened connective tissue, an enlarged aorta and other symptoms.

“There are researchers working on a mouse model,” said Dr. Alan Braverman, director of the Barnes-Jewish Marfan Clinic, one of several sites in the U.S. doing research on the genetic disorder that weakens the body’s connective tissue. “With that model, they understand why things happen with Marfan,” he said.

Sparking optimism among researchers is a counteragent to the defective gene that is showing signs of reversing the effects of Marfan.

Braverman said initial testing indicates that the mice’s connective tissue is getting stronger. “Their aortas look more normal; their bones look more normal; their hearts look more normal. But,” the physician cautions, pausing to make sure his point is understood, “people aren’t mice.”

Indeed. But, as Braverman is quick to note, the latest findings could propel research even further into finding if not an outright cure for Marfan then at least a treatment for putting the brakes on the condition’s effects.

“This give great hope,” he told the Suburban Journals. “The hope is that something can be done to improve the integrity of the tissue.”

Braverman’s passion in working with Marfan patients is easily understood. At 44, he is only two years younger than his father was when he died in 1977 of Marfan-related complications. His older brother was diagnosed with an enlarged aorta and later found to have Marfan Syndrome. His brother’s son, also, has been diagnosed as having the disorder.

Unlike his brother, Braverman did not inherit the defective gene. That is not uncommon. According to the National Marfan Foundation, there is about a 50-percent chance of inheriting the mutated gene.

After growing up in Western Missouri, Braverman came to St. Louis in 1991, obtained a position with Washington University and became involved with the local Marfan support group. Two years later, he began seeing patients at the clinic.

To find out more about Marfan Syndrome, contact the National Marfan Foundation at 1-800-8-MARFAN or visit the organization’s website at If you suspect you might have Marfan Syndrome, call the Marfan Syndrome Clinic at Barnes-Jewish Hospital and Washington University School of Medicine at (314) 362-1291.

Copyright 2005 St. Louis Post-Dispatch, Inc.