RNE Annual Conference
“Improving Health Care Experiences in the
Rare Disease Community”
Speakers and Topic Descriptions
One of the most important tools in clinical drug development is clinical trials. In order for a medicine to be approved for use in humans the risk/benefit profile of the proposed drug must be sufficiently described. The risk/benefit profile is typically very specific to the use of the new medicine in a defined disease and patient population. Unfortunately, many patients lack sufficient understanding of clinical trials and may be unsure of how and where to access information. This talk will provide a fundamental review of clinical trials from the patient’s perspective. The essential elements of clinical trials will be discussed in the context of the broader clinical drug development process. The unique aspects of rare disease trials, various sources of information about trials, and the importance of clinical trials will be presented with the opportunity for questions.
“Genetics Education Materials for School Success (GEMSS): School Can Be a Great Experience for Everyone!”, Karen Volle
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. She’ll also highlight an affiliated project: Genetics Education Materials for School Success (GEMSS). On a personal level, Karen will share why her own family history has compelled her to “give something back” in the field of genetics.
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. Not only are such presentations informative, they are inspirational. In fact, their compelling nature can attract young professionals to consider rare diseases as a career choice. Having more clinicians working in this area of medicine would benefit all in the community! Consider your role in advancing the field.
"Small signals making big impact: The power and promise of health care social networks", John Novack
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. John will discuss a research project in which a researcher has been exploring a theorized correlation among certain childhood diseases and improved cancer outcomes later in life. 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. John will describe the still-untapped value to researchers of patient-generated insights.
"Direct to Consumer Testing in Genetics: The Good, the Bad, and the Ugly", Leah Burke MD
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.
"Parent Advocacy - Finding Your Voice to Meet Your Child's Needs", Carrie Woodcock
This workshop will provide information and resources available to parents of children with special healthcare needs so they are able to assertively advocate while navigating systems of care. We will teach the difference between passive, aggressive and assertive advocacy, provide tools and tips to prepare for meetings and/or appointments, and review the rights of recipients.
Lisa will provide visual insight on how to find your legislator and create thinking points for connecting with legislative staff.
"Rare Genetic Diseases: Moving Beyond Diagnosis to Treatments Using Gene Therapy", Robert Burgess MD
There are over 7000 known rare genetic diseases, but there are effective treatments for just a few hundred. 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. Gene therapy offers a promising approach for these diseases, and gene therapy methods continue to improve, with several successful clinical trials now underway. Dr. Burgess will discuss some of the new results in gene therapy, how they are being applied to rare diseases, and some of the challenges that remain.
John Campbell has 25 years industry experience with 15 years in the pharmaceutical and 10 years in biopharmaceutical business. In 1992 he joined SmithKline Beecham (SB) doing mammalian cell culture and fermentation process development. In 1998 he transferred to Global Clinical Development & Medical Affairs at SmithKline working on the clinical development of Avandia® for Type 2 Diabetes. 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.
In 2005 he joined Endo Pharmaceuticals as Associate Director of Medical Affairs serving as Medical Lead for Frova® and played a key role in the acquisition of Indevus Pharmaceuticals helping to establish new capabilities in pediatric endocrinology, urology and urologic oncology. At Endo John worked in a number of therapeutic areas and had responsibility as Medical Lead for Valstar® (bladder cancer), Vantas® (prostate cancer), Frova® (migraine), and Supprelin LA® (Central Precocious Puberty). He also worked in clinical development for a number of opioid and non-opioid pain management compounds. John left Endo in 2012 as Director, Medical Affairs and established Med Affairs Alliance Partners, LLC (MAAP) a consulting business serving various clients in the US, Toronto and Copenhagen.
In 2014 he joined Stealth Biotherapeutics as Senior Director, Clinical Development & Medical Affairs where he led the Mitochondrial Myopathy clinical development program and developed an expertise in the clinical and regulatory development of rare & orphan drugs. At Stealth he established a new group called Regulatory & Clinical Outcome Sciences focusing on incorporating functional clinical outcomes and the patient perspective in the clinical development of Bendavia for Mitochondrial Myopathy.
In 2016 John returned to consulting supporting clients with compounds targeting rare & complex disorders in various stages of pre-clinical and clinical development. 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. John continues to work with a number of Patient Advocacy Organizations and lives with his family in Pottsgrove, PA.
Carrie Woodcock is a graduate from Saint Joseph's College in Maine with a BA in liberal arts. She spent 15 years after graduation in the field of sales and marketing. Six years after the birth of her daughter she joined Maine Parent Federation as the Regional Family Support Coordinator for Southern Maine. Three years ago she became the Executive Director for Maine Parent Federation. She has a son who is 15 years old who is diagnosed with Dyslexia and ADHD, and a 12-year-old daughter with Down Syndrome. She has been advocating for the needs of her children across all systems of care since 2007. Her work with Maine Parent Federation has allowed her to share her knowledge and experience with parents and professionals alike since 2013.
Karen has been with the Institute on Disability at the University of New Hampshire (IOD/UNH) since February 2008. Directly before this position, Karen worked as a research assistant with the Crimes Against Children Center at UNH. Karen has a strong background in human services, having directed a Juvenile Intake program for eighteen years prior to working at UNH. This experience spanned child welfare, the juvenile court system and social services, and helped Karen learn to look across systems as well as to manage day to day activities. She now uses those skills at the IOD.
Karen’s work spans two areas, the first being the New England Regional Genetics Network (NERGN). NERGN aims to improve health equity and health outcomes in individuals with genetic conditions, reduce morbidity and mortality caused by genetic conditions (including congenital and metabolic disorders); and to improve the quality of coordinated and comprehensive genetic services to children and their families. The second area is related to research on policies around employment for people with disabilities.
Mark Korson, MD graduated from the University of Toronto School of Medicine (1982), completing a rotating internship at St. Joseph’s Health Center in Toronto (1983) and his pediatric residency nearby at The Hospital for Sick Children (1986). After completing a fellowship in genetics and metabolism at Boston’s Children's Hospital (1990), he became director of the Inborn Errors of Metabolism Clinic at Children's until 2000. In 2000, Dr. Korson became director of the Metabolism Service at Tufts Medical Center's Floating Hospital for Children, as well as Associate Professor of Pediatrics at Tufts University School of Medicine, serving there until 2014.
Dr. Korson promotes an educational approach to address the growing crisis in metabolic health care due to the shortage of available clinicians to treat this patient community. 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. NAMA is sponsored by the Society for Inherited Metabolic Disorders (SIMD).
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 2015, Dr. Korson co-founded the Genetic Metabolic Center for Education (GMCE), a comprehensive, multi-modal initiative for improving the level of care for children and adults with metabolic disease. 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. Also, as VMP Director of Education, he continues to develop innovative resources to help educate specialists and their trainees so they can participate more in the diagnosis and management of metabolic disease.
John Novack oversees communications for Inspire, a health care social network of more than 1.5 million patients and caregivers worldwide. John served on the Association of Health Care Journalists’ board of directors and was an AHCJ officer. A former journalist, he was group publisher at HCPro, a health care regulatory publishing and training company. He also worked in communications and market development roles with Quantros, a safety software company, and EBSCO Publishing. He has a bachelor’s degree in psychology and a master’s degree in journalism.
Dr. Burke is board certified in both Clinical Genetics and Pediatrics. She serves as the Director of the University of Vermont Medical Center Clinical Genetics Program and is a professor in the UVM College of Medicine. Education in genetics to learners at all levels from medical school through practicing physicians has been an important part of her career. 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. She serves on the Council of Genetics for the American Academy of Pediatrics and on the board of the New England Regional Genetics Network. She has given numerous CME courses and webinars and has worked on a national level to provide genetics and genomics educations to medical providers at all levels. She has been at the forefront of developing genetics and genomics education for medical students. She currently serves on the faculty for the Weitzman Institute Integrated Pediatric ECHO program providing telemedicine genomic education and consultations to providers.
Lisa Deck is a multiple stroke survivor, experienced patient-advocate and motivational speaker. Lisa became active in the volunteer community after suffering her first stroke twenty years ago. Lisa has survived three more strokes and recently underwent double brain surgery far from home to restore her health. She serves as a motivational speaker, sharing her story of thriving after literally having her blood vessels moved to preserve her life. She is a leading advocate and volunteer for the American Heart Association and served as a Go Red for Women National Spokeswomen 2014-2015. Lisa advocates at the local, state and Federal level for positive policy change. Lisa speaks throughout New England to inspire others and raise awareness of heart disease, stroke, and Moyamoya disease. Lisa also volunteers in her kids’ schools, as a Girl Scout leader, and with Rare New England. Lisa is proud to be a founder and director of Sisters@Heart.
Dr. Burgess received his B.S. in Biochemistry from Michigan State University (1990) and his Ph.D. in Neuroscience from Stanford University (1996). After a postdoctoral fellowship at Washington University, St. Louis, Dr. Burgess took a faculty position at The Jackson Laboratory in Bar Harbor in 2001 and is now a full Professor. 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. In all of these studies, we are addressing basic molecular mechanisms, but these basic mechanisms have relevance to human neuromuscular and neurodevelopmental disorders. 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.
Dr. Burgess has also assumed a number of leadership roles both institutionally and nationally. Of particular relevance, he is on the scientific advisory boards of the Hereditary Neuropathy Foundation and the Talia Duff Foundation, and he is the Chair of the NIH study section for Cellular and Molecular Biology of Neurodegeneration. Internally, he is the director of the NIH-funded Center for Precision Genetics, the director of the postdoctoral training program in Bar Harbor, and the director for the cooperating Ph.D. program in Neuroscience with Tufts University.
Dr. Smith will review what telegenetics is, the history of how it evolved in Maine, and how it is currently being used in Maine to improve access to genetics services.
Dr. Smith is a board certified Clinical Geneticist at Maine Medical Center. She is a graduate of University of Massachusetts Medical School and completed a pediatrics residency at Strong Memorial Hospital in Rochester, NY before starting her fellowship in Genetics at the Children’s Hospital of Philadelphia. Dr. Smith has been a practicing clinical geneticist in Maine since 2001. Dr Smith is the Medical Director of Cleft Lip and Palate Clinic at Barbara Bush Children’s Hospital. She is credited with bringing telegenetics to her practice and is the Region 1/New England Representative to the NCC Telegenetics Work Group.
“Accessing Medical Care for Free for Patients and Their Families with Angel Flight NE”, Amy Camerlin
The presentation will cover what it is like to fly on an Angel Flight NE, how we can help, who we can help and where we fly. It will also address who our pilots are along with how our corporate sponsors impact our flights for children and adults.
Amy Camerlin is the Physician and Hospital Outreach Coordinator for Angel Flight NE, a non-profit organization that was founded in May of 1996. Angel Flight NE provides free flights for children and adults needing to access medical treatment for as long and as often as needed. Amy began her career at Angel Flight NE in 1999 and in 2009 left to start her own small business. It would be five short years when Amy realized her passion was with Angel Flight NE. Having survived a serious neurological illness at the age of 17 she understands the importance of access to specialized medical care. Her illness required years of follow up care with multiple physicians as is the case with many AFNE patients. 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. Providing in-services or speaking on panels to help further Angel Flight NE mission has been a priority for Amy and Angel Flight NE.
"A Brief Introduction to Legal Planning For Life’s Transitions"
For families and individuals facing the impact of a rare disease, the natural stages of life can bring on new and diverse challenges. 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.
Annette M. Hines is the founding partner of Special Needs Law Group of Massachusetts, PC and has been practicing in the areas of Special Needs, Elder Law and Estate Planning for over twenty years. Her clients include individuals and families of children with special needs, the elderly, and others in the community. She received her BA for the University of Vermont, her MBA from Suffolk University, and her JD from Howard University School of Law.
Ms. Hines brings personal experience with special needs to her practice, as the mother of two daughters, one of whom passed away from Mitochondrial disease in November 2013. This deep personal understanding of special needs fuels her passion for quality special needs planning and drives her dedication to the practice.
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. 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. In April of 2019 she published her Amazon Best Selling book, Butterflies and Second Chances: A Mom’s Memoir of Love and Loss. Ms. Hines is also a frequent contributor to many special needs resources, both as author and interviewee, including Arianna Huffington’s Thrive Global.
Outreach Coordinator at Next Step
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. 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. We empower young people with the tools and knowledge they need to begin asking “what’s next?” instead of “why me?
Quita Christison, MPH is an ever-evolving cyborg. She's been at Next Step for 4 years now in different roles throughout the years. She is Next Step's resident people person. She is responsible for connecting awesome young people and their providers to our programs. She has found a way to merge her two passions of theatre and healthcare by engaging youth in expressive arts to help them take ownership of their narratives. She is all about having young people get into the conversations that matter to them. You can find her exploring new places and cultures, especially through food. She loves singing, laughing, and general noise making.