rare disease conference boston

rare disease conference boston

Learn More. He then transferred across town to Tufts Medical Center to become director of the Metabolism Service, as well as Associate Professor of Pediatrics at Tufts University School of Medicine, serving there until 2014. Physicians and health professionals are not well trained around these conditions which puts pressure on the patient or parents to have to educate and advocate on behalf of themselves or their child. Carrie Woodcock is a graduate from Saint Joseph's College in Maine with a BA in liberal arts. Rare and Genetic Kidney Disease Drug Development Summit Mike lives a few miles outside of Boston, in Winchester, MA with his wife Shelly and their three school-aged children. John served on the Association of Health Care Journalists board of directors and was an AHCJ officer. He spent almost 14 years doing clinical informatics at Beth Israel Deaconess Medical Center, where he developed and implemented innovative systems to improve clinical care delivery and patient engagement, including clinical decision support systems, an EHR, and one of the nations first patient portals. Presenter: Chuck Bergamo, JD Chairperson of the West Regional Parent Advisory Council for the CT Department of Developmental Services. The West in Waltham Boston 70 3rd Avenue Waltham, MA 02451 . Information should be regarded as general guidance only. Dr. Danny Sands is passionate about healthcare transformation. Mr. Walsh also serves as Executive Director of the Derma Care Access Network (DCAN)an independent, non-profit advocacy coalition comprised of diverse stakeholders that include patients, patient advocates, physicians, and health policy experts. They work with patient organizations and disease foundations to develop educational tools and programs that they can offer to their communities. 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. 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). Emily Parks is a chronically ill young professional based out of San Francisco working in behavioral health and patient advocacy. Jenn McNary is a trusted voice in the rare disease community, as a mother, public speaker and fierce advocate. She participated in a clinical trial for 15 years until the drug that changed her health trajectory was ultimately FDA approved. Have you ever asked yourself these questions? She earned her MBA from Albertus Magnus College with a concentra tion in leadership. She received her Bachelor of Science at Merrimack College, and Master of Science in Nursing from Simmons University in Boston. Lisa is a former Go Red for Women National Spokeswomen for the American Heart Association and currently serves as an Advocacy Board Member for the American Heart Association in Boston and Southern New England. Grants favorite hobbies include reading, skiing, basketball, and hanging out with friends at the beach. Ms. Hines is also a frequent contributor to many special needs resources, both as author and interviewee, including Arianna Huffingtons Thrive Global. More information to follow. Her 23 years experience with PAF has been spent improving patients lives around the nation. Kevin retired as the head of the Portfolio and Project Management Operations Excellence Group. David Ross is a patient advocate and rare disease male mental mental health collabo rator. Babies with GA-1 cannot break down protein properly. She is a biochemical geneticist at Hasbro Children's Hospital. 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. He is building the worlds first sof tware platform to decentralize drug development and empower anyone in the world to create a treatment for a genetic disease. in Biochemistry from Michigan State University (1990) and his Ph.D. in Neuroscience from Stanford University (1996). Quita Christison, MPH is an ever-evolving cyborg. As the title suggests, this is not a general clinical operations conference. Engaging patients and families who are fearful, curious, traumatized, or burdened can be rewarding. She is a rare disease advocate and Change Leader in the rare disease community. Earlier in her career, she worked at Brigham and Womens Hospital in the Antenatal Diagnostic Center. What do families do that might trigger an investigation? She underwent two brain bypass surgeries in 2015 to restore blood flow to her brain. Having survived a serious neurological illness at the age of 17 she understands the importance of access to specialized medical care. Patient Advocate Foundations mission is to deliver compassionate, effective interventions that address access and affordability issues experienced by patients as they navigate care in the worlds most expensive and complicated healthcare system. She presents some tips and tricks for advocates at all ages and take the time to answer your burning questions. Panel with Dr Mark Korson and Dr Michele Spencer-Manzon following a break-out session that addresses various topics posed by FOD Families and a Q&A. Agenda - World Orphan Drug Congress USA 2023 In December of 2010, late in his senior season, Rob was diagnosed with anaplastic astrocytoma, a rare and aggressive form of brain cancer. Search now Centers of Excellence NORD Rare Disease Centers of Excellence are diagnosing and treating thousands of rare disease patients. The organization works to gather information internationally to a database that specifically deals with people with this rare genetic mutation and coordinates directly with researchers to develop therapeutics and treatment options for the many challenges people with this mutation face. Between 2007 and 2011, Dr. Korson founded and directed the Metabolic Outreach Service, based at Tufts Medical Center, for which he traveled on a regular basis to five teaching hospitals in the northeastern US without on-site metabolic services. In 1998, he and a colleague established Pfizer Research University (PRU) which helped expert drug researchers and developers to teach what they knew. What are the outcomes? HOME. Speaker: Sanath Kumar Ramesh CEO of Open Treatments and cureGPX4.org, Sanath is a bold and visionary software leader, open source pioneer and a rare disease drug developer. For families and individuals facing the impact of a rare disease, the natural stages of life can bring on new and diverse challenges. Sarita has a Bachelor of Science is Health Science and is currently pursuing her Masters in Health Administration. She starte d giving presentations to science and medical students about life as a patient, helping these students connect their studies to real patients. Check out who is attending exhibiting speaking schedule & agenda reviews timing entry ticket fees. He also worked in communications and market development roles with Quantros, a safety software company, and EBSCO Publishing. He plans to attend college in the Fall of 2021, majoring in sociology and political science. Six years after the birth of her daughter she joined Maine Parent Federation as the Regional Family Support Coordinator for Southern Maine. 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. 4th Rare Disease Day Training . 40 years ago, most medical teaching occurred at the bedside; this is not the case today, and yet one can learn so much about patients and their diseases by just listening to their stories. However, Dr. Steeles greatest accomplishment is that of being a mom to two incredibly cute and amazing boys, Michael age 13 and Matthew age 12 years old. Second Patient with Extremely Rare Genetic Resistance to Alzheimer's Rather than dwelling on these results, he decided to use them as motivation to fight back and get more involved within the community. 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. is scheduled for June 5 - 8, 2023, in Boston. Lisa Deck provides a talk about how to find your legislator and creating thinking points for connecting with legislative staff. Lisa also serves as a Global Ambassador, sharing her personal experience and patient expertise internationally. Julies current interests include studying caretaking experiences of children with PKU and other rare diseases. In order for a medicine to be approved for use in humans the risk/benefit profile of the proposed drug must be sufficiently described. Karen has a strong background in human services, having directed a Juvenile Intake program for eighteen years prior to working at UNH. Explore and learn more about Conference Series : World's leading Event Organizer. She also participates in research projects through Yale for patients with metabolic disorders. Presenter: Quita Christison, MPH Next Step. Her clinical interests are in rare diseases. He co-founded in 2007 the North American Metabolic Academy which has become an integral component of genetic resident training on this continent. Accessing Medical Care for Free for Patients and Their Families with Angel Flight NE. She works in Yale Medical School Departments of Genetics and Pediatrics. The result was amazing as Michael demonstrated the Power of One: how one little boy can bring experts together and overcome barriers in pursuit of a cure. He worked at a sister camp of The Hole in the Wall Gang Camp called Barretstown in Ireland for 6 years, and has worked at Camps for children with serious illnesses for 15 years. She previously served on the Boston University Genetic Counseling Program Advisory Board. Joy Buzzel shares her experience with having a child diagnosed with Lennox-Gastaut syndrome (LGS). In 2007, Dr. Korson co-founded the North American Metabolic Academy, an annual one-week intensive course about metabolic disease for genetic and metabolic trainees; to date, more than half of all American genetic trainees have enrolled in this course. Speaker: Amel Karaa, MD Assistant Professor Harvard Medical School, Massachusetts General Hospital, RNE Board Member. 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. We will learn strategies for responding, such as, not taking offense, considering possibility of stress and potential value of MH consultation, seeking help for underlying dx of problem, and appropriate rx. Speaker: Tasia Rechisky, MBA RNE Board Member. Review of diagnostic tools for rare diseases and what to expect from them. She worked at Duke for a year after training and then came home to New England to take a position on faculty at Yale where she has been for the past 6 years. Jun 05, 2023 - Jun 08, 2023. Through the lens of her lived experiences in healthcare, she has become a champion for patient voices, diversity and inclusion in clinical research, and equitable patient-sponsor partnerships. 2 Boston Celtics) Game 6: Saturday, May 27 at 8:30 p . At age 11, Grant's hearing loss led to a diagnosis of Alport syndrome, a rare genetic kidney disease that causes decline in kidney function and often causes hearing loss and eye abnormalities. He has authored over 100 manuscripts on glycogen storage disease along with 28 chapters on the liver forms of GSD. Speaker: Christine Von Raesfeld - Founder and CEO of People with Empathy. Mike Walsh is founder and CEO of Patient Advocacy Strategies, a strategic consulting firm for the life sciences industry. INVESTORS. This talk provides an overview of the New England Regional Genetics Network (NERGN) mission and activities, setting the stage for a presentation on a signature project: the Genetics Education Materials for School Success (GEMSS) website. What do I do next? as co-director of the BoLD lysosomal storage disease program at Boston Children's and as one of the main physicians for the PAL clinic. Her work is dedicated to addressing the psychosocial needs of patients with rare diseases. Panel Moderator: Kevin Freiert, MBA RNE Vice President and Board Member. Speaker: Cristol Barrett O'Loughlin Founder & CEO of ANGEL AID CARES. Our teams have worked on 110+ cell and gene therapy projects in the past 5 years - over 70% of them in rare disorders. Additionally, Eileen is working in the state of Ohio to join the Rare Disease Advocacy council to ensure that patients are afforded proper medical care and treatment. Events - MassBio SPONSORS. Collectively Changing the Paradigm for Rare Disease Treatment. A native of Buenos Aires, Argentina, Giselle was a student-ath lete at the University of New Haven, graduating with a BA in clinical psychology. Presenter: Donna Sullivan The Coalition Against Pediatric Pain. rarediseases 2022 | rarediseases 2022 - Health Conferences Upcoming Events - National Organization for Rare Disorders About Boston Rare Connections is a registered 501(c)(3) nonprofit public charity patient advocacy organization focused on helping those with rare and undiagnosed disorders. We invite caregivers, patients and professionals to take the pledge at Raregivers.global. Patient Data Seminar. This talk reviews some of the causes and trigger factors that lead to mistrust, and provides some guidance in how to prevent or ameliorate such a difficult and potentially dangerous situation. One of the most important tools in clinical drug development is clinical trials. He received a degree in Ireland in Applied Social Studies and currently working on his Masters in Social Work at the University of Connecticut. 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. Our programs are a place where young survivors feel safe enough to laugh, share experiences, and create a sense of community with peers who truly understand their unique challenges. He is co-chair of the International Network on Fatty Acid Oxidation Research and Therapy (INFORM). Throughout her career in the public and nonprofit sectors, she has focused on developing and evaluating programs that provide health and social services for underserved populations. Hear about valuable resources for patients and families living with rare and complex disorders from speakers at Angel Flights, Vermont Therapy Dogs, and Muscular Dystrophy Association. . She has been involved on a regional and national level to make sure that the education of genetics and genomics is continued at the postgraduate and continuing education level. John Novack oversees communications for Inspire, a health care social network of more than 1.5 million patients and caregivers worldwide. A recent summa cum laude graduate of The George Washington University, Taylor is an award-winning activist, an accomplished speaker, and a respected author, having recently published a memoir, Rare Like Us: From Losing My Dad to Finding Myself in a Family Plagued by Genetic Disease. In 2017, Dr. Korson joined VMP Genetics in Atlanta as Director of Education and Director of Physician Support Services, a telehealth consulting practice that assists physicians in the care of their metabolic patients. 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

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