{"id":7058,"date":"2026-09-30T19:22:20","date_gmt":"2026-09-30T17:22:20","guid":{"rendered":"https:\/\/f101g.org\/?p=7058"},"modified":"2026-09-30T19:24:05","modified_gmt":"2026-09-30T17:24:05","slug":"101-genomes-welcomes-alienor-and-expands-its-research-focus-to-include-loeys-dietz-syndrome","status":"publish","type":"post","link":"https:\/\/f101g.org\/en\/101-genomes-welcomes-alienor-and-expands-its-research-focus-to-include-loeys-dietz-syndrome\/","title":{"rendered":"101 Genomes welcomes Ali\u00e9nor and expands its research focus to include Loeys-Dietz Syndrome"},"content":{"rendered":"

Since its founding, 101 Genome Foundation has focused primarily on Marfan syndrome. Today, we are pleased to announce we will now also include Loeys-Dietz syndrome (LDS), a closely related hereditary connective tissue disorder.<\/p>\n

Understanding Loeys-Dietz Syndrome<\/strong><\/p>\n

First described in 2005, Loeys-Dietz syndrome is a rare genetic condition that affects the body’s connective tissue. It shares many features with Marfan syndrome, particularly its effect on the cardiovascular system. LDS is caused by variants in genes involved in the TGF-beta signaling pathway, and its presentation can vary widely from one person to another. Like Marfan syndrome, it remains an area where further genetic research is urgently needed to develop effective treatments.<\/p>\n

Welcoming Ali\u00e9nor Lecomte<\/strong><\/p>\n

This expansion is made possible with the arrival of Ali\u00e9nor Lecomte, who joins the 101 Genome Foundation as our LDS patient community lead. Ali\u00e9nor brings a rare combination of perspectives to the role. She is currently studying medicine and also lives with Loeys-Dietz syndrome herself, giving her both clinical insight and a personal understanding to the challenges faced by patients and their families.<\/p>\n

What This Means for Our Work<\/strong><\/p>\n

Our approach to LDS will follow the model we have developed for Marfan syndrome. We will work to build and engage patient communities living with LDS and, through our GEMS dynamic consent platform, connect them with scientists conducting genomic research.<\/p>\n

A First Appearance at the Marfan Europe Network Meeting<\/strong><\/p>\n

Ali\u00e9nor’s first engagement in her new role took place this past weekend at the Marfan Europe Network (MEN) meeting in Luxembourg. The gathering brought together patient organizations, families, and professionals from across Europe, and provided a valuable opportunity to introduce our expanded mission to the wider community. We are proud to be part of this growing network, united by a shared commitment to finding treatments for Marfan syndrome and related rare diseases.<\/p>\n

\"\"<\/p>\n

Join Us<\/strong><\/p>\n

If you are living with Loeys-Dietz syndrome or Marfan syndrome, your participation can help drive research forward. By joining our community through the GEMS platform, you can contribute to studies that bring us closer to understanding these conditions and developing new treatments, while keeping full control over how your information is shared.<\/p>\n

To join GEMS visit: https:\/\/www.101gems.be\/<\/a><\/p>\n

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