Massachusetts Pavilion @ BIO Convention. SPEAKERS. Ms. Hines is also a frequent contributor to many special needs resources, both as author and interviewee, including Arianna Huffingtons Thrive Global. At SB he led the Avandia and Avandamet Investigator Study Program and provided medical promotional preview and publication/lifecycle management for the Avandia family of products while continuing to work on clinical development R&D projects in diabetes and metabolism. BOSTON--(BUSINESS WIRE)-- Astria Therapeutics, Inc. (NASDAQ:ATXS), a biopharmaceutical company developing STAR-0215 for hereditary angioedema and focused on life-changing therapies for rare and niche allergic and immunological diseases, today announced that Jill C. Milne, Ph.D., Chief Executive Officer, will participate in a fireside chat at the upcoming Jefferies Healthcare Conference on . Karen has a strong background in human services, having directed a Juvenile Intake program for eighteen years prior to working at UNH. Dr. Nizar has a Doctoral degree in Educational Leadership from Creighton University, Nebraska, is a TEDx speaker, a blogger and inclusion advocate. She previously served on the Boston University Genetic Counseling Program Advisory Board. Conferences on Rare Diseases - Rare Diseases and Orphan Drugs She is a biochemical geneticist at Hasbro Children's Hospital. Having more clinicians working in this area of medicine would benefit all in the community! Speaker: Joanne Wechsler and Connie Simendinger Vermont Family Network. In 1989, he was named as one of the inaugural Goldwater Scholars. Speaker: Erin Bradshaw Chief of Mission Delivery for the Patient Advocate Foundation. An overview of services provided by The Hole In the Wall Gang Camp including summer camp, family weekends, parent programs, hospital outreach, and regional programming. His latest project has been to set up rare disease male mental mental health International zoom calls for patients and caregivers and has set up an online support group on facebook for males in 2021. Explore and learn more about Conference Series : World's leading Event Organizer. Quita Christison, MPH is an ever-evolving cyborg. 7 people interested. Carrie Woodcock is a graduate from Saint Joseph's College in Maine with a BA in liberal arts. Karen will share an overview of the New England Regional Genetics Network (NERGN), whose purpose includes reaching medically underserved communities, providing resources, and increasing the use of telehealth. Her other activities include serving as the Founder of One Rare, a non-profit formed to meet the needs of young adults with rare and chronic conditions and raising her four children in Massachusetts. And more so, if you have a rare disease. She sees a wide variety of patients with rare diseases at Yale-New Haven Hospital, and specializes in inborn errors of metabolism. She did her Pediatrics residency at The Floating Hospital for Children at Tufts Medical Center in Boston, MA and then completed fellowships in Clinical Genetics and Medical Biochemical Genetics at Boston Childrens Hospital. John also works with the Genetic Metabolic Center for Education (GMCE) supporting the development of a novel approach to medical education in metabolic and genetic disease. The conference, the largest in the . This can lead to high stress situations, especially in the inpatient setting. Not only are such presentations informative, but they are also inspirational. She began her efforts of advocacy and public policy after her 5th child was diagnosed in utero with rare disease Edwards Syndrome or Trisomy 18. Speaker: Adrian Palau-Tejeda Diversity and Inclusion Fellow for the EveryLife Foundation for Rare Diseases. In his free time, he enjoys playing power soccer with his team in weekly practice and in games around the United states, and downhill skiing with his family. As the industry-leading rare gene therapy meeting, the Gene Therapy for Rare Disorders is back at a landmark moment for the field. He completed his pediatric residency at the University of Colorado Health Science Center, and his postdoctoral fellowship in Human Genetic and Pediatrics at Yale University School of Medicine in New Haven, Connecticut. Dr. Sands holds an academic appointment at Harvard Medical School and maintains a primary care practice at Beth Israel Deaconess Medical Center in which he makes extensive use of health ITmuch of which he helped to introduce. The Camp provides year-round programming for children with serious illnesses and their families free of charge. Collectively Changing the Paradigm for Rare Disease Treatment. Recognized as a Distinguished Citizen by ARC Massachusetts and cited for public service by both the Massachusetts State Senate and House of Representatives, Ms. Hines works tirelessly on behalf of people with disabilities. Practically, he would like to be involved in technology that can make the lives of those affected easier, and help to measure benefit in clinical trial setting so more non-ambulant young men will be able to participate and give valuable data. When: July 14 - 16, 2023: 11:00 AM-2:00 PM MT Venue: The Omni Interlocken Hotel, 500 Interlocken Blvd . Mary-Frances attended the University of Rochester, graduating with a BS in Molecular Genetics, and SarahLawrence College where she earned an MS in Human Genetics. BOSTON and LONDON, March 30, 2023 (GLOBE NEWSWIRE) Orchard Therapeutics ORTX, a global gene therapy leader, today announced that the company will make a virtual presentation at the Guggenheim Genomic Medicines and Rare Disease Day on Tuesday, April 4, 2023 at 1:35pm ET.. A live webcast of the presentation will be available under "News & Events" in the Investors & Media section of the . Taylor Kane, veteran advocate, shares her experiences in advocacy as a child, teen, and now young adult. Dr. Burgess has also assumed a number of leadership roles both institutionally and nationally. She serves in leadership positions within several non-profits, including but not limited to MitoAction and Rare Disease Legislative Advocates (RDLA). She has been a long term member of the newborn screening advisory committee to the Rhode Island Department of Health and is currently the chair of the committee. Newhouse School of Public Communications. HOME. Adrian Palau-Tejeda is the Diversity and Inclusion Fellow for the EveryLife Foundation for Rare Diseases. Since then, Lisa has become actively involved in rare disease advocacy. Presenter: Amy Camerlin Angel Flight NE. How do I talk with my insurance company? NORD Breakthrough Summit | Rare Disease Conference This panel talks about health professionals resilience. What do families do that might trigger an investigation? Rob and his wife, Irie, reside in suburban Philadelphia with their dog Winston. She and her husband, Steve, have two children. Presenter: Alan Pendo Pender Hole in the Wall Gang Camp. Director of Product Content, Exceptional Lives, Inc. Only 10 in the World? In 2016, after a yearlong diagnostic odyssey, Dr. Steeles oldest son Michael was diagnosed with an ultra-rare life-threatening disease called Kaposiform Lymphangiomatosis (KLA). The researcher has extremely strict selection criteria, and had expected to find two or three people at most who fit the criteria, but Inspire discovered many dozens of such people already. Accessing Medical Care for Free for Patients and Their Families with Angel Flight NE. He later led several development teams as Project Manager, including a few rare disease projects. Information should be regarded as general guidance only. While working at The Hole in the Wall Gang Camp, he met his wife, who was also a counselor at the time. However, the reality is, health insurance is a complex topic for most people. anxiety, depression, stress) and how this may sometimes be correct, but often isnt. Jun 05, 2023 - Jun 08, 2023. Before joining Modern Bank, Mr. Lueker spent nine years at RBS as a Managing Director in Asset Management, Head of Leveraged Finance Portfolio Management, Head of Technology/Media/Telecom Portfolio Management, and President & Chief Operating Officer of RBS Equity Corporation. He also received a B.S. August 10-11, 2022 Zurich, Switzerland. Local company develops therapies for rare diseases - WCVB Channel 5 Karen has a strong background in human services, having directed a Juvenile Intake program for eighteen years prior to working at UNH. Speaker: Lisa Deck Founder and Director of Sisters@Heart. We invite caregivers, patients and professionals to take the pledge at Raregivers.global. Speaker: Allison Wood Rare New England Volunteer, Patient- and Family-Centered Care is a unique approach to the planning, delivery, and evaluation of health care that is grounded in mutually beneficial partnerships among patients, families, and healthcare providers. Her area of expertise is in inborn errors of metabolism, neuromuscular disease and genetic disorders of the GI tract. The genetic and genomic testing landscape is changing very quickly. Participate at the first of its kind gene therapy and rare disease conference designed by a collaboration of seasoned . In December of 2010, late in his senior season, Rob was diagnosed with anaplastic astrocytoma, a rare and aggressive form of brain cancer. He is now using open source softwar e to enable treatments for 400 million patients worldwide affected with rare genetic diseases through his non-profit organization, OpenTreatments Foundation (opentreatments.org). My prescription has been denied, what can I do?What do they mean it isnt medically necessary? Dr. Nizar serves as Founder and Executive Director of the Jansen's Foundation. David's activism began in 2017 when he was diagnosed with a rare disease called Cowden Syndrome due to being given a letter from his mother about getting tested before she passed away due to having the same condition. Dr. Korson advocates for innovation in medical education and clinical practice models as a response to the growing crisis in metabolic health care due to the shortage of clinicians available to serve this patient community. A Midwestern in all that he does, Adrian began his outreach work walking the streets of Milwaukee, field organizing in under-served communities. Presenter: Julie McKinney Exceptional Lives. Vermont Family Network (VFN) Family Support staff are skilled, caring families of children with special needs who have walked the walk and talked the talk. Learn how we can provide support and empowerment as you navigate the complexities of special education and healthcare systems. She works with rare disease advocates across the country to engage at the local, state, and federal level. 2023 edition of Rare Disease Innovation and Partnering Summit will be held at Boston starting on 16th May. She worked in both economics and corporate management until her son was born with Barth syndrome, an ultra-rare mitochondrial disease with key clinical manifestations including cardiomyopathy, immune systems vulnerabilities (in the form of neutropenia), skeletal muscle weakness, gastrointestinal problems and metabolic issues. Joan can be reached at bishopj@amc.edu. Inspire Communications Director John Novack will explore the deep value of patients gathering online in large numbers--for themselves, for their families, for researchers, and for healthcare as a whole. International Conference on Rare Diseases PRESENTATIONS February 28 (Hybrid) & March 1 (Digital), 2023 | Technopolis City of Athens Gasholder 1 - Auditorium "Miltiadis Evert Leveraging the momentum for a comprehensive rare disease strategy The essential elements of clinical trials will be discussed in the context of the broader clinical drug development process. July, 2024 Jul 12 International Conference on Rare Diseases and Indigenous Genetics (ICRDIG) - New York, United States August, 2024 Aug 26 International Conference on Orphan Drugs for Rare Diseases (ICODRD) - Paris, France October, 2024 Oct 25 International Conference on Rare Diseases and Orphan Drugs (ICRDOD) - Osaka, Japan December, 2024 She received her Bachelor of Science at Merrimack College, and Master of Science in Nursing from Simmons University in Boston. In October 2017, Dr. Korson joined VMP Genetics in Atlanta as Director of Physician Support to promote telehealth metabolic consulting, assisting physicians in the care of their metabolic patients. RNE shall not be liable for any action taken as a result of information taken from this site. Living with a complex disease or one that is rare or not well understood has many challenges, including navigating a complex health care system that is only growing in complexity. Sarita has a Bachelor of Science is Health Science and is currently pursuing her Masters in Health Administration. In addition to the formal presentation by Dr. Ryu, . Her work is dedicated to addressing the psychosocial needs of patients with rare diseases. His involvement with Alport Syndrome Foundation (ASF) led him to become an active patient advocate. Rare and Genetic Kidney Disease Drug Development Summit Speaker: Michele Sencer-Manzon, MD Faculty at Yale. Speaker: Michele Spencer-Manzon, MD Faculty at Yale. She also serves on the Board of Directors for Merlins Kids, a NJ based non-profit that trains and places service dogs with children in need. Her 23 years experience with PAF has been spent improving patients lives around the nation. A practicing physician with training and experience in clinical informatics, Dr. Sands has worked in a variety of capacities in the healthcare IT industry for over 25 years. She has been at the forefront of developing genetics and genomics education for medical students. In 2012, Taylor founded a campaign called YAC (Young ALD Carriers) to support young females who carry the gene for ALD and to assist them in effectuating positive change through advocacy, social media, and the legislative process. Kevi n is a seasoned drug developer with outstanding people skills. The improved access and reduced cost of genome sequencing has made the identification and diagnosis of these diseases increasingly efficient; however, drug development and effective therapies remain challenging. Dr. Vockley is internationally recognized as a leader in the field of inborn errors of metabolism. The World Orphan Drug Congress USA is where rare disease stakeholders gather to talk about strategies to expedite orphan drug development April 23-25, 2024 Boston Convention and Exhibition Center, Boston, MA The World's Most Important Orphan Drug and Rare Disease Event APPLY TO SPONSOR DOWNLOAD PROSPECTUS APPLY TO SPEAK 300+ Speakers 50+ Christine has brought her unique perspective and honed expertise to countless roles as a featured speaker for numerous conferences on topics ranging from clinical trial recruitment to data & digital rights, from a true patient perspective. As the parent of a 20 year-old with Syngap1, Charles has a unique understanding of the challenges Special Needs families face. RNE Board Members and mental health advocates will discuss mental health challenges and strategies for rare disease patients. She's been at Next Step for 4 years now in different roles throughout the years. Gene Therapy for Rare Disorders | Home Thank you to our speakers, sponsors, and delegates who joined us in Boston for the summit! Astria Therapeutics to Present at Upcoming Jefferies Healthcare It is a 3 day event organised by Informa Markets - Boulder, USA and will conclude on 18-May-2023. Dr. Korson graduated in Medicine at the University of Toronto School of Medicine (1982), then completed a pediatric residency nearby at Torontos Hospital for Sick Children. She is Next Step's resident people person. ANN ARBOR, Mich. (PRWEB) May 30, 2023 Genomenon Inc., a genomic intelligence company, today announced that it was awarded Best of Show at Bio-IT World Conference and Expo 2023 for its independent genetic disease assessment, which starts with calculating rare disease prevalence.Each year, the Best of Show Awards program at Bio-IT World recognizes innovative product solutions to important . She is now a member of several patient leadership councils, informing pharmaceutical companies on the patient perspective and helping build resources for rare disease patients and caretakers. She received her BA for the University of Vermont, her MBA from Suffolk University, and her JD from Howard University School of Law. A former journalist, he was group publisher at HCPro, a health care regulatory publishing and training company. Lisa lobbies at the local, state and Federal level for health policy development . Medical nutrition therapy can play an important role in the dietary management of rare diseases. 2 Boston Celtics) Game 6: Saturday, May 27 at 8:30 p . Many markets carry ABC as well, so you can also watch the NBA Finals. Children who have genetic conditions, about 1 in 20, are members of neighborhood schools across the country. The NORD Summit, one of the largest global events in rare disease, brings together experts and leaders from patient advocacy groups, government, industry, and academia to discuss the current and critical topics in rare diseases and orphan products. She was designated a 2016 Top Women of Law from Massachusetts Lawyers Weekly and has been named to the Massachusetts Super Lawyer list every year since 2014. Following his graduation from Trinity College (CT) and Harvard Medical School, Dr. Weinstein did a residency, chief residency, and fellowship in pediatric endocrinology at Children's Hospital Boston. John Novack oversees communications for Inspire, a health care social network of more than 1.5 million patients and caregivers worldwide. She is also a member of the Organic Acidemia Association and a consumer task force member for Babys First Test. In 2011, Dr. Steele received a KL2 NIH award and Clinician Scientist Award, which allowed for protected time to study at the Johns Hopkins Bloomberg School of Public Health where she obtained a PhD in the Graduate Training in Clinical Investigation. Clinical trials are essential for approval of drugs by the FDA but clinical trials for rare disorders face unique challenges. Rare Diseases 2022 Rare Diseases: Sharing new research and treatments On behalf of the operating committee, we are pleased to announce that the 3rd Global Congress on Rare Diseases and Orphan Drugs will be held during November 23-24, 2022. Speaker: Taylor Kane Founder and President of Remember the Girls. Lisa Deck is a Founder & Director of Sisters@Heart, a non-profit organization that improves the lives of those affected by heart disease and stroke. The risk/benefit profile is typically very specific to the use of the new medicine in a defined disease and patient population. Speaker: Shelby Redfield Genetic Counselor. SPONSORS. Dr. Steele went on to study the gut-brain axis and was keenly interested in neuroimaging and discovering what the underlying mechanisms might be that help with sustained weight loss following surgery (like taste changes). Explanation of how these symptoms may be ascribed to emotional problems only (e.g. Grant Bonebrake, age 18, is a senior in high school in San Diego, California. Presenter: Amy V. Camerlin Angel Flight NE, Physician and Hospital Outreach Coordinator, Presenter: Sharon Space Hole in the Wall Gang Camp, Medical Director at The Hole in the Wall Gang Camp, "An Overview of The Hole in the Wall Gang Camp". Ed has extensive experience in genetic education of primary care clinicians and the general public. This talk aims to promote understanding of the differences between Direct to Consumer testing and clinic testing in the world of genetics, and to give understand both the pitfalls and the advantages of doing genetic testing outside of the medical community. She now uses those skills at the IOD. Speaker: Christine Von Raesfeld - Founder and CEO of People with Empathy. Panel Speaker: Brittany Holmes, MSN, SPRN, FNP-BC Yale University Department of Genetics. Austin has been a participant in clinical trials, is a volunteer on Parent Project Muscular Dystrophys Adult Patient Advisory Committee, and a member of the review board for certified Duchenne care centers. In all of these studies, we are addressing basic molecular mechanisms, but these basic mechanisms have relevance to human neuromuscular and neurodevelopmental disorders. Speaker: Julie Gortze, RN Founder and BOD for Rare New England. Attorney Hines will walk the audience through some key considerations in estate planning, incapacity planning and legal authority and access to essential public benefits and supports. Wherever possible, Christine generates momentum toward progress along her patient advocacy interests and has become a thought leader worldwide, stimulating dialog on a range of topics relevant to patients, clinicians, and industry as moderator and host of People with Empathy; The Inside Track on clubhouse. In 2014 she re-joined Angel Flight NE and has been cultivating and fostering relationships with social workers, nurses, case managers, physicians, hospital administrators and other non-profit organizations all to ensure that people in need of access to medical care are aware of AFNEs services. These amazing patient adovcates, who have dedicated their lives to improve the life of others facing health challenges, will examine the role resilience plays in their own advocacy for patients and caregivers living with a rare disease. During this presentation you will learn more about Patient Advocate Foundations program and services that offer effective, compassionate interventions to mitigate the negative effects out-of-pocket healthcare and cost-of-living expenses have on patients and their families by facilitating access to safety net programs, negotiating resolutions to medical debt and educating individuals on relevant resources. We are increasingly using the mouse models we have generated to test therapeutic strategies in preclinical studies, especially related to gene therapy approaches, with the goal of translating these findings to patients. On a personal level, Karen will share why her own family history has compelled her to give something back in the field of genetics. He is a Founding Fellow of the American College of Medical Genetics and Genomics, and currently serves on its board of directors. Speaker: Danny Sands, MD Co-Founder and Chief Advocacy Officer, Society for Participatory Medicine. You will have an opportunity to participate in an afternoon workshop to sample ketogenic foods. The West in Waltham Boston 70 3rd Avenue Waltham, MA 02451 . He plans to attend college in the Fall of 2021, majoring in sociology and political science. Our mission is to shatter limitations and elevate aspirations of teens and young adults living with life-threatening diseases during their transition to adulthood and into an adult healthcare system. Joan Bishop has been with Oley since 1985 (nearly its inception) and has served in many capacities. Michele Spencer-Manzon, MD grew-up in New England, eventually going to the University of Massachusetts Medical School. His passion is driven by his mothers 17-year battle with the rare, genetic disease known as Huntingtons Disease (HD). Her work in the rare disease space as a thought leader earned her the Ryan's Quest Ryan's Hero award in 2013, a nomination for the Global Genes Champion of . Babies with GA-1 cannot break down protein properly. Richard is the former co-chair of the National Hemophilia Foundations (NHF) Youth Leadership Institute. Research in the Burgess lab seeks to understand the molecular mechanisms of synapse formation and maintenance at two sites in the nervous system: the peripheral neuromuscular junction and the retina. Mary-Frances Garber, is a board-certified, licensed genetic counselor, with a private practice, Listening, Reflecting, Healing, where she provides supportive genetic counseling and bereavement services. She is an award winning advocate and host of the Being Rare Podcast, a digital resource hub and community conversations platform popular for its 60 second episodes. Where can I get assistance? Joy is a social worker and began volunteering with the epilepsy community after her sons diagnosis, which turned into a position at the Epilepsy Foundation of New England. Karen has been with the Institute on Disability at the University of New Hampshire (IOD/UNH) since February 2008. Dr. Vockley received his undergraduate degree at Carnegie-Mellon University in Pittsburgh, Pennsylvania, and received his degree in Medicine and Genetics from the University of Pennsylvania School of Medicine in Philadelphia, Pennsylvania. Gene Therapy for Rare Disorders | About Event His prognosis at the time was less than encouraging, and his surgery, recovery and treatment took 16 months. Speaker: Mark Korson, MD Genetic Metabolic Center for Education, Rare New England BOD. This conference is a must attend event for thought leaders, advocates, researchers and industry executives trailblazing novel solution . Dr. Burgess received his B.S. This presentation will review the 4 core principles of patient- and family-centered care, specifically: dignity and respect, information sharing, participation and collaboration. Michele Spencer-Manzon, MD, is a clinical and biochemical geneticist who specializes in treatment of metabolic and neurometabolic disorders. Speaker: John Campbell Genetic Metabolic Center for Education (GMCE). Kimberley E. Steele, MD, PhD, FACS, FASMBS and Diplomate of the American Board of Obesity Medicine (DABOM), completed her surgical residency at Hershey Penn State University from 2000 to 2005 and a minimally invasive and bariatric surgical fellowship a t Johns Hopkins from 2005-2006. VFN has many ways that we can help you become your childs most effective advocate as a partner with the professionals who serve your family. The talk will focus on how to discuss pain issues with your physician, understanding the complexities of finding the right care. She is dedicated to fulfilling the Foundations mission and welcomes your ideas, comments, and feedback. One of the most important tools in clinical drug development are clinical trials. Shell also highlight an affiliated project: Genetics Education Materials for School Success (GEMSS). She is a widely known advocate voice that inspires others and raises awareness of heart disease, stroke and Moyamoya disease. We look forward to seeing you at our Annual Conference in person this year. She serves as physician lead for Quality Improvement in the Division of Genetics. As a trained attorney, Eileen uses her advocacy skills to support the Fatty Acid Oxidation community serving on a Patient Leadership council and volunteering. How do I know if my insurance plan will fit my needs? She also currently serves as a leader of the Young Adult Representatives of the Rare Disease Legislative Advocates (YARR), educating young adults with rare diseases to advocate for more affordable, safe, and effective treatments. Whenever possible, he uses his voice to elevate our DMD community and increase awareness of the need for approved drug therapies. Donna Sullivan is a passionate writer who uses her experience in media and communications to creatively raise awareness of the needs of kids living with Ehlers Danlos Syndrome and complex pain conditions. She has spoken to researchers, doctors and other decision-makers within the FDA and other organizations about this experience and the importance of clinical trial participation. Shannon has worked with national nonprofit organizations to further their policy and advocacy goals including Juvenile Diabetes Research Foundation and National Osteoporosis Foundation. David Ross is a patient advocate and rare disease male mental mental health collabo rator. When not working Dr. Spencer-Manzon enjoys travels and outdoor activities including running, hiking and kayaking. She has been advocating for the needs of her children across all systems of care since 2007. On behalf of the organizing committee, we are pleased to announce that the 5th Annual Congress on Rare Diseases and Orphan Drugs (Rare Diseases 2018) will be held from August 29-30, 2018 in Boston, USA.Rare Diseases 2018 provides a premier interdisciplinary platform for researchers to present the latest research findings and describe emerging technologies, and directions in rare diseases and . A lot of the usual topics are covered, from decentralized clinical trials to patient recruitment to COVID-19, but every session is specific to rare disease. In order for a medicine to be approved for use in humans the risk/benefit profile of the proposed drug must be sufficiently described.