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display: block; float:left; left: 0 !important; font-weight: normal; top: 0 !important; position:relative !important; text-align: center; line-height: 40px !important; margin-right:20px; border-radius:5px 0 0 5px; } .rd_acc_9 .ui-accordion-header-icon:before { content: "\f067"; font-family:'FontAwesome' } .rd_acc_9 .ui-accordion-header-active .ui-accordion-header-icon:before { content: "\f068"; font-family:'FontAwesome' } .rd_acc_9 .wpb_accordion_content { } .rd_acc_10 .wpb_accordion_header { font-size:20px !important; line-height: 32px !important; margin: 0 0 9px 0 !important; outline: none!important; border-radius: 3px; } .rd_acc_10 .ui-accordion-header-active { outline: none!important; } .rd_acc_10 .ui-accordion-header-icon { background:none!important; height: 48px !important; width: 49px !important; display: block; left: 0 !important; position:relative !important; float:left; font-weight: normal; top: 0 !important; text-align: center; line-height: 49px !important; 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<h2><a href="https://mgriblog.org/2024/02/29/rare-diseases-day-qa-with-a-mass-general-investigator/" title="Rare Diseases Day: Q&A with a Mass General Investigator"> Rare Diseases Day: Q&A with a Mass General Investigator </a></h2> </div>   <div class="post-info"><span class="pi_author">By <a href="https://mgriblog.org/author/mghresearch/" title="Posts by mghresearch" rel="author">mghresearch</a> <span class="pi_sep">|</span> </span><span class="pi_cat"><a href="https://mgriblog.org/category/neurology/" rel="category tag">Neurology</a> <span class="pi_sep">|</span> </span><span class="pi_comment"><a href="https://mgriblog.org/2024/02/29/rare-diseases-day-qa-with-a-mass-general-investigator/#respond" class="comments-link" >0 comment</a> <span class="pi_sep">|</span> </span><span class="pi_date">29 February, 2024 <span class="pi_sep">|</span> </span><span class="pi_like"><a href="#" class="zilla-likes" id="zilla-likes-24096" title="Like this"><span class="zilla-likes-count">0</span> <span class="zilla-likes-postfix"></span></a></span></div>   <div class="entry"> <div class="fl-builder-content fl-builder-content-24096 fl-builder-content-primary fl-builder-global-templates-locked" data-post-id="24096"><div class="fl-row fl-row-fixed-width fl-row-bg-none fl-node-bo9srxgy3nm6 fl-row-default-height fl-row-align-center" data-node="bo9srxgy3nm6"> <div class="fl-row-content-wrap"> <div class="fl-row-content fl-row-fixed-width fl-node-content"> <div class="fl-col-group fl-node-98wobzeha73i" data-node="98wobzeha73i"> <div class="fl-col fl-node-wh189ldayj75 fl-col-bg-color" data-node="wh189ldayj75"> <div class="fl-col-content fl-node-content"><div class="fl-module fl-module-rich-text fl-node-8wkyphb97ns5" data-node="8wkyphb97ns5"> <div class="fl-module-content fl-node-content"> <div class="fl-rich-text"> <div id="attachment_24086" class="wp-caption alignright" style="width: 286px;"> <p><img loading="lazy" decoding="async" class="wp-image-24086 size-medium" src="https://i0.wp.com/mgriblog.org/wp-content/uploads/2024/02/16881824-2.jpg?resize=276%2C300&ssl=1" sizes="auto, (max-width: 276px) 100vw, 276px" srcset="https://i0.wp.com/mgriblog.org/wp-content/uploads/2024/02/16881824-2.jpg?resize=276%2C300&ssl=1 276w, https://i0.wp.com/mgriblog.org/wp-content/uploads/2024/02/16881824-2.jpg?resize=943%2C1024&ssl=1 943w, https://i0.wp.com/mgriblog.org/wp-content/uploads/2024/02/16881824-2.jpg?resize=768%2C834&ssl=1 768w, https://i0.wp.com/mgriblog.org/wp-content/uploads/2024/02/16881824-2.jpg?w=1033&ssl=1 1033w" alt="" width="276" height="300" aria-describedby="caption-attachment-24086" /></p> <p id="caption-attachment-24086" class="wp-caption-text">Vanessa Merker, PhD</p> </div> <p><a href="https://www.rarediseaseday.org">Rare Disease Day</a>, an international effort to recognize the 300 million people impacted by rare diseases worldwide, is observed on the last day of February.</p> <p>While each rare disease may only affect a small number of patients—collectively rare diseases are a significant health burden.</p> <p>In the United States, there are more than 7,000 rare diseases affecting between 25 and 30 million Americans (approximately 1 in 10 people).</p> <p><a href="https://researchers.mgh.harvard.edu/profile/3209110/Vanessa-Merker">Vanessa Merker, PhD,</a> is a health services researcher working to improve patient care for patients with neurofibromatosis type 1 and schwannomatosis, two rare diseases in which benign tumors grow on nerve cells and cause a variety of symptoms including pain, dizziness and hearing loss.</p> <p>She uses community-engaged, mixed methods approaches to understand patients’ healthcare needs and experiences; develops and analyzes patient reported outcome measures for use in clinical trials; and designs novel interventions to improve patients’ quality of care.</p> </div> </div> </div> <div class="fl-module fl-module-separator fl-node-c2xjqr7ka1il" data-node="c2xjqr7ka1il"> <div class="fl-module-content fl-node-content"> <div class="fl-separator"></div> </div> </div> <div class="fl-module fl-module-heading fl-node-hpgkxd3yfoja" data-node="hpgkxd3yfoja"> <div class="fl-module-content fl-node-content"> <h2 class="fl-heading"> <span class="fl-heading-text">How Did Your Research Career Start?</span> </h2> </div> </div> <div class="fl-module fl-module-rich-text fl-node-wktr506sqfnc" data-node="wktr506sqfnc"> <div class="fl-module-content fl-node-content"> <div class="fl-rich-text"> <p>I started doing research at Mass General almost 14 years ago, right out of college in the the <a href="https://www.massgeneral.org/neurology/research/the-family-center-for-neurofibromatosis-and-schwannomatosis">Family Center for Neurofibromatosis and Schwannomatosis</a>, where I still am, now as a faculty member.</p> <p>At the time, I had just graduated with my degree in cognitive neuroscience, so I was looking for a job doing research in neurology and found a position working on this rare disease that honestly, I had never heard of before I worked here.</p> <p>Within a year of working here at MGH on neurofibramatosis research, I fell in love with this community. Now, 14 years later, I'm still here.</p> </div> </div> </div> <div class="fl-module fl-module-heading fl-node-iht43fwr2ejv" data-node="iht43fwr2ejv"> <div class="fl-module-content fl-node-content"> <h2 class="fl-heading"> <span class="fl-heading-text">What is the Focus of Your Research?</span> </h2> </div> </div> <div class="fl-module fl-module-rich-text fl-node-j3pcg6n98yxu" data-node="j3pcg6n98yxu"> <div class="fl-module-content fl-node-content"> <div class="fl-rich-text"> <p>My research focuses on neurofibromatosis type 1 and schwannomatosis.</p> <p>These are a group of rare neurogenetic disorders that predispose individuals to develop tumors in their nervous system: their brain, spine, and in the nerves throughout their body.</p> <p>It can also lead to a lot of other symptoms depending on their gene mutation, including pain and problems with vision and hearing.</p> <p><strong>My research focuses on two areas:</strong></p> <ul> <li>Clinical trials to develop and test new treatments for these conditions</li> <li>Improving the quality of care for patients</li> </ul> </div> </div> </div> <div class="fl-module fl-module-heading fl-node-j1lg4yb3qw50" data-node="j1lg4yb3qw50"> <div class="fl-module-content fl-node-content"> <h2 class="fl-heading"> <span class="fl-heading-text">Is There a Difference Between Neurofibramatosis and Schwannamatosis?</span> </h2> </div> </div> <div class="fl-module fl-module-rich-text fl-node-ath6ym0c75vl" data-node="ath6ym0c75vl"> <div class="fl-module-content fl-node-content"> <div class="fl-rich-text"> <p>There is a difference in neurofibromatosis and schwannomatosis, and this has been better delineated in the past few years.</p> <p>We used to think that they were the same disorder because of the way they affect the nervous system. But with advances in genetic technology and getting people the genetic testing they need, we've been able to see that there are actually multiple different genes that cause the different forms of neurofibromatosis and schwannomatosis.</p> <p>Here at Mass General, we recently led an international consortium that revised the diagnostic criteria for these disorders to help physicians clarify which of these conditions folks have.</p> </div> </div> </div> <div class="fl-module fl-module-heading fl-node-582oybfzlkn7" data-node="582oybfzlkn7"> <div class="fl-module-content fl-node-content"> <h2 class="fl-heading"> <span class="fl-heading-text">What's Challenging About Rare Disease Research?</span> </h2> </div> </div> <div class="fl-module fl-module-rich-text fl-node-zofrd0b3in4w" data-node="zofrd0b3in4w"> <div class="fl-module-content fl-node-content"> <div class="fl-rich-text"> <p>I think one of the most challenging aspects about working in rare disease research is that there are only a few medical centers across the U.S. that really have expert clinics in caring for people with neurofibromatosis and schwannomatosis.</p> <p>For this reason, many people don't have access to those clinics because they live too far away or their insurance doesn't cover visits.</p> <p>So when we try to do research, it can be hard to reach these people, but what I'm really excited about is that we've been pioneering decentralized trials to help reach these patients and give them access to our clinical trials.</p> <p>Decentralized trials mean that we're bringing as much of the trial as possible into people's homes through things like electronic surveys and wearable devices, so that they can participate from home as much as possible.</p> </div> </div> </div> <div class="fl-module fl-module-heading fl-node-dpl3ob7u2nfv" data-node="dpl3ob7u2nfv"> <div class="fl-module-content fl-node-content"> <h2 class="fl-heading"> <span class="fl-heading-text">Where Do You Hope to See Your Research in 5-10 Years?</span> </h2> </div> </div> <div class="fl-module fl-module-rich-text fl-node-no92mx74f3sc" data-node="no92mx74f3sc"> <div class="fl-module-content fl-node-content"> <div class="fl-rich-text"> <p>I'm really excited that in the next five to 10 years, I think we are going to make huge strides in discovering new treatments.</p> <p>I'm especially excited because we have two innovative platform trials running here at Mass General, which means that instead of testing a single medication at a time, we're able to iteratively add new arms, testing new treatments as soon as we think that they might be effective.</p> <p>So I have huge hopes that in the next five to 10 years we'll be able to discover effective treatments for schwannomatosis through our research here at Mass General.</p> </div> </div> </div> <div class="fl-module fl-module-heading fl-node-c0enorhzt1a5" data-node="c0enorhzt1a5"> <div class="fl-module-content fl-node-content"> <h2 class="fl-heading"> <span class="fl-heading-text">What Makes Mass General a Unique Place for Rare Disease Research?</span> </h2> </div> </div> <div class="fl-module fl-module-rich-text fl-node-bc4om6h7ye35" data-node="bc4om6h7ye35"> <div class="fl-module-content fl-node-content"> <div class="fl-rich-text"> <p>Many of the world's clinical experts in rare diseases sit here at Mass General, and everyone is so collaborative and willing to bounce ideas off each other.</p> <p>It is the absolute best place to network with experts, learn from what they're seeing in the clinic and translate that right into our research.</p> </div> </div> </div> <div class="fl-module fl-module-video fl-node-bp2uxg8wf9v0" data-node="bp2uxg8wf9v0"> <div class="fl-module-content fl-node-content"> <div class="fl-video fl-embed-video"> <iframe loading="lazy" title="Rare Disease Awareness Day: Q&A with a Mass General Investigator" width="1170" height="658" src="https://www.youtube.com/embed/urO7jju_ZJs?feature=oembed" frameborder="0" allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share" allowfullscreen></iframe></div> </div> </div> <div class="fl-module fl-module-separator fl-node-gcsdz2pq3h9b" data-node="gcsdz2pq3h9b"> <div class="fl-module-content fl-node-content"> <div class="fl-separator"></div> </div> </div> <div class="fl-module fl-module-cta fl-node-e7vcit04albs" data-node="e7vcit04albs"> <div class="fl-module-content fl-node-content"> <div class="fl-cta-wrap fl-cta-inline"> <div class="fl-cta-text"> <h3 class="fl-cta-title">About the Mass General Research Institute</h3> <div class="fl-cta-text-content"><p>Research at Massachusetts General Hospital is interwoven through more than 30 different departments, centers and institutes. The goal of our research is to better understand human health and disease and to identify new strategies for prevention, diagnosis and treatment. Your support will help us pursue new and unproven areas of research that could lead to the next game-changing breakthroughs.</p> </div> </div> <div class="fl-cta-button"> <div class="fl-button-wrap fl-button-width-full fl-button-has-icon"> <a href="https://massgeneral.link/support-research" target="_blank" class="fl-button" rel="noopener" > <span class="fl-button-text">Support our Research</span> <i class="fl-button-icon fl-button-icon-after fas fa-arrow-right" aria-hidden="true"></i> </a> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div id='jp-relatedposts' class='jp-relatedposts' > </div> </div>  </div> </div>   <div class="tags_container"><div class="tags_icon"></div><div class="single_post_tags"><a href="https://mgriblog.org/tag/rare-diseases/" rel="tag">rare diseases</a></div></div> <div class="share_icons_container"><div class="shareicons_icon"></div><div class="single_post_share_icon"> <div class="share-box"> <ul> <li id="facebook"> <a 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