When Elizabeth (Lisa) Henske, MD, began her research on the rare, progressive lung disease lymphangioleiomyomatosis (LAM), the genetic mutations that caused the disease were unknown.
Henske helped change that; her discovery of mutations that cause one form of LAM accelerated the field. The pace of discovery in the decade since has been rapid, with the results of a recent clinical trial suggesting that a drug known as rapamycin may be able to help keep LAM in check. But Henske has her eyes on the end goal: a cure for LAM.
“Our team can achieve breakthroughs,” said Henske, who is the director of the Center for LAM Research and Clinical Care at BWH and works closely with Lung Research Center collaborators David Kwiatkowski, MD, PhD, Souheil Y. El-Chemaly, MD, MPH, and Carmen Priolo, MD, PhD. “We want to achieve additional breakthroughs in a five-year timeframe or even sooner.”
In patients with LAM, smooth muscle cells grow abnormally, invading the lungs, blood and lymph vessels. These cells have the ability to grow uncontrollably in the lungs. As they do, they destroy the delicate alveoli (air sacs) of the normal lung, which can lead to lung collapse, shortness of breath and even death.
LAM occurs almost exclusively in women and can appear “sporadically” in otherwise healthy women or in women with another disease known as tuberous sclerosis complex (TSC). Up to 80 percent of girls diagnosed with TSC will go on to develop evidence of lung destruction from LAM as adults.
Henske recently received a $5 million gift from Gregg and Molly Engles to establish the Lucy Engles TSC/LAM Medical Research Program at BWH, which will focus on TSC and LAM research. The new program is named after the Engles’ 3-year-old daughter.
According to Henske, the gift comes at a pivotal moment.
“With this gift, we will take the very strong foundation of knowledge about the functions of the TSC genes and use that knowledge to develop more effective treatments, including treatments that can essentially eliminate LAM,” she said.
Henske’s research has the potential to impact the care of patients with other diseases of the lung. Understanding how LAM destroys the lungs may lead to new insights into diseases such as emphysema, and learning how LAM cells spread to the lungs could shed new light on how cancer cells spread.
Henske is optimistic about what the new gift from the Engles family will allow her team to accomplish.
“With BWH’s new Lung Research Center, our well-established Clinical LAM Center and a strong research base in LAM and TSC, we are poised to translate basic discoveries into better treatments and a cure for LAM,” said Henske. “We have lots of questions to pursue but also tremendous optimism and the right team to advance this field.”