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View the 2020-2021 Research Booklet 1 2020 – 2021 YEAR IN REVIEW THE LATEST IN RESEARCH AND CLINICAL CARE IN FAMILIAL DYSAUTONOMIA 2 Table of Contents MESSAGE FROM THE DIRECTOR .......................................................................................... 3 GLOBAL CONNECTIONS ........................................................................................................... 4 Expanding the FD Family ............................................................................................................. 4 STUDY HIGHLIGHT ....................................................................................................................... 7 Insensitivity to pain: not just in FD ............................................................................................. 7 RESEARCH NEWS .......................................................................................................................... 9 Understanding cancer risk in FD ................................................................................................. 9 Neurodegeneration, gut microbiome, and metabolic impairment ........................................ 10 Evaluation of growth and growth hormone in patients with FD .......................................... 11 Can we avoid fundoplication in some children with FD? ...................................................... 13 Developing therapeutic strategies to correct ELP1 splicing in FD ....................................... 14 Longitudinal Pulmonary Function Data from Sheba Medical Center ................................ 15 Pluripotent Stem Cell Research for FD .................................................................................... 16 UPCOMING CLINICAL TRIALS ............................................................................................. 17 The future of FD: Treatment with Antisense Oligonucleotides ............................................ 17 Better treatment of autonomic crisis at home .......................................................................... 19 CLINICAL UPDATE ..................................................................................................................... 21 Telehealth and virtual visits in FD ............................................................................................. 21 2020-2021 STAFF HIGHLIGHTS ......................................................................................... 22 NP Zenith Khan given the Rising Bruin Alumni Award ....................................................... 22 Dr. Patricio Millar making his name known in the world of Dysautonomia ...................... 23 2020-2021 CENTER HIGHLIGHTS ..................................................................................... 26 CURRENT RESEARCH STUDIES FOR PATIENTS WITH FD ...................................... 28 NATURAL HISTORY INFO....................................................................................................... 29 DYSAUTONOMIA CENTER .................................................................................................... 30 SUPPORT FOR THE PROGRAM ........................................................................................... 31 WAYS TO HELP ............................................................................................................................ 32 3 MESSAGE FROM THE DIRECTOR hen COVID-19 upended nearly all aspects of clinical care in March 2020, our patients and their families quickly pivoted to redefine a new “normal.” WPeople with FD transitioned to virtual learning, virtual day habs, and virtual offices. They continued their pulmonary care and use of BiPAP to prevent pulmonary complications that would put them at increased risk. Families quarantined for their loved ones, postponed birthday parties, and weddings, and did everything they could to keep their family members safe. At the NYU Dysautonomia Center, we doubled down on tackling what COVID-19 may look like in patients with FD and how to best prevent this risk and promote health in the time of quarantine. Our office staff devised a telemedicine system to provide virtual visits. Our data team revamped our database to ensure COVID-19 tracking was easy and seamless. Our nurse practitioners stayed ahead of the curve in tackling everything COVID-19 related, from quarantining guidelines to vaccinations and where to find them. Of course, while COVID-19 was here, underlying conditions for patients with FD did not go away. While the pandemic was rampant in New York City, not a day went by that our Center did not respond to the needs and care for patients with FD. We continued to provide comprehensive, quality, interdisciplinary care and collaboration for every patient. Despite ongoing difficulties, we have seen many of our patients graduate, start new jobs, and celebrate new developments in their lives. Since the inception of the NYU Dysautonomia Center, we have seen how high-quality, comprehensive care has added decades of life for people with FD. Our Center continues to encourage a multidisciplinary approach, emphasizing data and evidence-based medicine, focusing on treating the whole person, and expanding access to care – whether that means seeing patients in the comfort of their home or from across the world. This Year in Review publication includes voices from multiple centers in the U.S. and overseas all working towards common goals for FD. We are making strides for better therapies. Some new potential treatment options are highlighted in this publication. We are excited about the possibility of finally being able to start clinical trials of disease-modifying therapies, hopefully by next year. This is a story about progress and transformation. We must continue to imagine and develop new ways to meet challenges, and together we will write the next chapter of FD. Horacio Kaufmann, MD, FAAN, Director of the NYU Dysautonomia Center 4 GLOBAL CONNECTIONS NYUDysautonomiaCENTER FOR More than 2.500.000 emigrated 150,000 PALE OF UK SETTLEMENT 2,040,000 65,000 15,000 ISRAEL 115,000 15,000 45,000 SOUTH SOUTH AFRICA AMERICA AUSTRALIA Expanding the FD Family D is an inherited disease caused by a mutation in the gene that has the blueprint to make ELP1, a protein necessary for the development of neurons. FD is inherited in an autosomal recessive Fpattern. This means that people with FD have 2 copies of the mutated gene, one copy inherited from each parent (Figure 1). People who have only one copy of the normal gene are still able to produce normal amounts of ElP1 and have no symptoms of FD. They are called carriers. When a carrier has a child with another carrier, their child has a 25% chance of having FD, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier (Figure 1). Until recently, almost all people that we knew with FD had two copies of the same genetic mutation, called the founder mutation (i.e., they were homozygous for the founder mutation), this is depicted in Figure 1. This mutation was traced back to the 16th century in a Jewish person living in Poland. Thus, however distant a relation, people with FD were related, with both parents descending from the same founder bloodline. Figure 1 ELP1 AJ Founder gene mutation found in 99.5% of the patients with FD. Homozygous 5 In 2001, a second mutation in the ELP1 gene was identified when it was discovered that a few people with FD had inherited this new mutation together with the founder mutation. In other words, each copy of the ELP1 gene had a different mutation, they were heterozygous (figure 2). Both parents of children carrying this new mutation had Jewish ancestry (Table 1). In 2003, a third mutation in the ELP1 gene was identified, this time in a patient without Jewish but Irish, German, and Sicilian ancestry (Table 1). Twenty years later we welcome to the FD community two very special newcomers. All patients with FD are special but these two toddlers each brought an added surprise. They were both born in 2017 but diagnosed only recently. One is a girl of African American heritage. The other is a boy, living in Poland. For both children, the diagnosis came as a result of whole-exome analysis, a technique that analyzes all coding regions of a person’s genetic code. In that way, doctors can cast a wide net and find mutations they had not thought about. In our two new patients, whole exome analysis was performed because they were chronically sick, and their doctors couldn’t figure out why but suspected a genetic condition. Both children were found to have one copy of the FD founder mutation inherited from one parent but novel, yet undescribed, mutations of the gene from the other parent. In the young girl’s case, one parent is from Trinidad, an island in the Caribbean where Jewish people immigrated to in the late 19th century and again in the 1940s. And although this parent was not aware of his Jewish ancestry, he was found to be a carrier of the founder mutation, which makes him a descendant of the Jewish founder. The other parent, however, is a carrier of a novel mutation in the ELP1 gene. Interestingly, when consulting a large database of genes, the same mutation has been reported in 2 other individuals who also have African ancestry. Those individuals in the database were carriers, they only had one copy of the mutated gene, the other copy was normal. But when that mutation is inherited together with a copy of the founder mutation from the other parent, the result is a child with FD. The child is heterozygous with
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