Restless Legs Syndrome Foundation Blog

New Genes Discovered that Contribute to Risk of RLS

Last month, researchers reported the identification of thirteen new gene loci that increase the risk for developing restless legs syndrome. This is a major milestone in demonstrating the power of genomics and its capacity to locate genes responsible for certain diseases.

It has long been known that RLS runs in families. Parents with RLS often have children, or even grandchildren, that exhibit signs of restless legs. Many adults with RLS recall their parents experiencing RLS symptoms decades prior, before the disorder had a recognized name. However, discovering how and why this familial phenomenon occurs has been difficult.

To date, the most successful research method in searching for genes associated with RLS has been genome-wide association studies (GWAS). This strategy involves using a large pool of individuals -- divided into a group with RLS and a group without RLS -- and screening common variants in their DNA.

In 2007, a GWAS study in the Icelandic population, funded in part by the RLS Foundation grant to Dr. David Rye of Emory University, identified for the first time a gene variant on BTBD9 that was associated with the “risk” of developing RLS. Subsequent studies by Dr. Juliane Winkelmann of Technical University of Munich and others further broadened the number of genes that were potentially involved in the risk of developing RLS.

In this most recent study, "Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis," researchers from many countries in Europe and North America combined three GWAS datasets, totaling 15,126 individuals with RLS and 95,725 individuals without RLS. The researchers then went to work on searching for genome-wide signals. To confirm their results, they used data from an additional 30,770 individuals with RLS and 286,913 individuals without RLS to ensure that their data could be replicated. And it could.

The study revealed strong evidence for 19 genes that contribute to the risk of RLS, 13 of which were new discoveries. Additional analyses also found:

• The strongest risk factor for RLS was confirmed as gene locus MEIS1.
• A strong association was observed near the CRBN gene locus.

While last month's study did not prove that these 19 gene variants cause RLS, it is certain to help future research better understand the molecular causes of the disease, ultimately leading to the development of new treatment options for this serious neurological condition.

Thank You from Our Executive Director

As we plan for the season of giving thanks and gathering with family and friends, I want to be the first to thank each of you for your loyal support to the RLS Foundation. Your gifts have allowed a once tiny organization of a committed group of volunteers to grow and become the voice of the RLS community for 25 years.

We value our relationship with you, and want you to know that the RLS Foundation is here when you need us. As a nonprofit organization, our priority is clear: to support and serve the RLS community. Through our network of resources, you can remain connected to people who care and can relate to your concerns.

• Our online Discussion Board and blog, as well as our social media outlets ( Facebook, Twitter, Instagram and others) provide instant connection to others.
• Our staff is here to help you with a listening ear and informational materials, and can help identify RLS providers in your community and at certified RLS Quality Care Centers.
• Our network of volunteers are there to support you via phone or email, and through comforting and informational support group meetings.

On November 28, we hope you will join us on #GivingTuesday, the global celebration of giving. Membership is the lifeblood of our organization, and allows for us to provide integral resources to everyone suffering from this often-misunderstood disease. Your $35 each year directly strengthens our programs, including sponsoring research, producing educational events and materials, maintaining support groups, and providing assistance online.

Considering membership but haven't taken action? Know someone that would benefit from membership? Want to give the gift of membership to someone in need? Take action so we can reach our goal of 25 NEW Foundation members by the end of #GivingTuesday!

Your support makes a real difference in the lives of individuals living with RLS and their families.

Sincerely,

Karla Dzienkowski, RN, BSN

Executive Director

Foundation Welcomes Third New Board Member in 2017

We are pleased to welcome a brand new member to the RLS Foundation's Board of Directors, Carla Rahn Phillips, PhD!

Dr. Phillips was born in Los Angeles, California. She earned her B.A. in History at nearby Pomona College in Claremont and her Master’s and Ph.D. degrees at New York University. She then joined the History Department at the University of Minnesota and taught there for more than 40 years, retiring in 2013 as the Union Pacific Professor in Comparative Early Modern History.

Her teaching and research have focused on Europe, with an emphasis on Spain and its overseas connections in the period from the late 15th to the late 18th centuries. Among her publications are The Struggle for the South Atlantic: The Armada of the Strait, 1581–84, editor and translator (London, 2016); The Treasure of the San José: Death at Sea in the War of the Spanish Succession (Baltimore, 2007); “Visualizing Imperium: The ‘Virgin of the Seafarers’ and Spain’s Self–Image in the Early Sixteenth Century,” Renaissance Quarterly, 58, No. 3 (Fall 2005): 815–856; "'The Life Blood of the Navy': Recruiting Sailors in Eighteenth–Century Spain," The Mariner's Mirror 87, No. 4 (November 2001): 420–445; "Time and Duration: A Model for the Economy of Early Modern Spain," American Historical Review 92 (June 1987): 531–62; and Six Galleons for the King of Spain: Imperial Defense in the Early Seventeenth Century (Baltimore, 1986).

In addition, Dr. Phillips has published three books and numerous articles with her husband, William D. Phillips, Jr., among them A Concise History of Spain (Cambridge, 2010, 2016); Spain's Golden Fleece: Wool Production and the Wool Trade from the Middle Ages to the Nineteenth (Baltimore, 1997); and The Worlds of Christopher Columbus (Cambridge, 1992).

"A distinguished academic and scholar of international stature, Dr. Phillips would be an asset to any organization," said Linda Secretan, RLS Foundation support group leader, fellow board member and head of the board's Governance and Nomination Committee. "We are pleased and honored that she has chosen to join our board. We hope to tap into her experience and acumen to make some RLS Foundation history of our own."

Now retired and living in central Texas, Dr. Phillips continues her research and writing, as well as being active in several professional organizations. Over the years she has held major offices in the American Historical Association (15,000 members), the Association for Spanish and Portuguese Historical Studies, and the Forum on European Expansion and Global Interaction, among others.

She was diagnosed with RLS more than 20 years ago, but the symptoms are currently controlled with medication. She is very pleased to join the board of the RLS Foundation in order to participate in its important work.

Welcome to the team, Dr. Phillips!