Genetics Research into LAM Leads to a New Discovery

Posted on July 01, 2019   |   
Author: A. Bloomer

Genetic research sponsored by The LAM Foundation has led to a new discovery!
We need your help to learn more.

What can saliva samples teach us about LAM? It took a global network of patients, researchers, and donors like you to find out. Everything began with one common connection—The LAM Foundation. We are the global leader in the fight against lymphangioleiomyomatosis (LAM). By donating to The LAM Foundation, your gifts help move us closer to finding safe, effective treatments, and ultimately a cure, for women living with LAM. When you give today, 100% of your tax-deductible donation will go directly to LAM research.

One important goal of LAM research is to understand how, where, and why LAM begins. To answer these questions, scientists study patient genes for clues. This type of research is challenging for rare diseases like LAM because hundreds of patient samples need to be collected from our relatively small community. Here’s how The LAM Foundation met this challenge.

About eight years ago, David Kwiatkowski, MD, PhD, a world-class LAM researcher at Brigham and Women’s Hospital, began developing the first genome-wide association study (GWAS) of LAM. At the time, traditional funding sources weren’t willing to support this exploratory research. When Dr. Kwiatkowski reached out to The LAM Foundation, funding was secured, and the study was in motion.

It started with a conversation at the 2011 International LAM Research Conference, an annual gathering of scientists, clinicians, patients, and family members hosted by The LAM Foundation. Dr. Kwiatkowski met John Adler, husband of LAM patient Vi Adler. Vi was a dedicated advocate of LAM research, inspiring John to support the GWAS study in her honor.

With Foundation support, Dr. Kwiatkowski and his team were able to send DNA sample containers to LAM patients around the world. Over the next few years, hundreds of women mailed saliva samples to Dr. Kwiatkowski’s lab, where they began analyzing the DNA. This year, they found a gene showing an association with sporadic LAM development—a new clue for potential interventions and treatments, as published in the European Respiratory Journal.

This is one step forward in understanding more about LAM, and we have many more to go. The next challenge is to learn the importance of this gene. We need your help to maximize this new discovery and find out if it could change everything for women with LAM. Donate today online at Your gift is essential to funding groundbreaking research that name make a difference in the lives of LAM patients everywhere. 

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