RNE Honors Rare Disease Day Speaker Series 2020
During the weeks around Rare Disease Day, RNE arranges for patients and/or family members to speak to medical audiences at major teaching hospitals, medical schools and genetic counseling programs around New England. The presentation topics includes any combination of the following possibilities: the diagnostic journey, living with the disease, coping strategies, challenges in the healthcare and/or educational systems, and others.
At each event, the patient presentation is preceded by a brief clinical overview of the disease by a geneticist to ensure that the audience has a medical foundation about the condition.
These sessions provide the medical community the chance to see patients with disorders they might not otherwise see. This opportunity also makes it more likely that they will recognize such patients in the future.
We are grateful to our sponsors for helping to make our educational programs possible!
Platinum Sponsors
- Brandeis University Genetic Counseling Program (MA)*
- Yale-New Haven Medical Center (CT)
- MGH Institute of Health Professions Genetic Counseling Program (MA)*
- Tufts University school of Medicine (MA)*
- Dartmouth-Hitchcock Medical Center (NH)
- University of Vermont Medical Center (VT)
- Boston University School of Medicine Genetic Counseling Program (MA)*
- Bay Path University Genetic Counseling Program (MA)*
- University of New England College of Osteopathic Medicine
- Rhode Island Hospital
*Non-CME Presentations
2020 Speaker Series Locations
Gold Sponsors
Silver Sponsors
2020 Rare Disease Focus
Very long chain acyl CoA dehydrogenase deficiency
X-linked adrenoleukodystrophy
Fabry disease
Acute intermittent porphyria
Nephropathic cystinosis
Moyamoya disease
Carbamyl phosphate synthetase deficiency
Argininosuccinic acid lyase deficiency
Glut-1 deficiency
Dr. Mark Korson is an RNE Board Member and Founder of the Rare Disease Day Speaker Series. He is currently Director of Physician Support and Director of Education at VMP Genetics, and co-directs the North American Metabolic Academy. He is a clinical biochemical geneticist, focusing on the development of a telehealth approach to metabolic care (helping physicians with diagnosis and management), and promotes education as a way of addressing the current workforce issue in metabolic medicine.
Meet our Hosts
Meet Dr. Lukovitz, who will be presenting an overview on Moyamoya Disease.
Dr. Timothy Lukovits grew up in a small rural town in upstate NY where his great-grand-parents started the first volunteer ambulance service. He attended Dartmouth College, obtained his medical degree at the University of Rochester, then completed his neurology residency at Dartmouth-Hitchcock Medical Center before completing a stroke and neurocritical care fellowship at Rush-Presbyterian St. Luke’s Medical Center in Chicago. He has been the Medical Director of the Cerebrovascular Disease and Stroke Program since 2002. He received the AHA Distinguished Leadership Award last in 2012. Under Dr. Lukovits’ leadership, DHMC recently received the American Heart Association/American Stroke
Association's Get With The Guidelines®-Stroke Gold Quality Achievement Award. Dr. Lukovits also chairs the Northeast Cerebrovascular Consortium Subacute Care Work Group, is the medical director of the New Hampshire Stroke Collabortive and the Vermont Stroke Executive Steering Committee. Dr. Lukovits has visited and provided education at nearly every hospital in New Hampshire and Vermont and has brokered inter-facility protocols and agreements with multiple hospitals in our region. His recent research has focused on the use of simulation lab training for acute stroke, helicopter transport for acute stroke, and clinical trials involving carotid artery stenting, PFO closure, new thrombolytic agents and antiplatelet medication.
Our first speaker series was at the Brandeis University Genetic Counseling Program on January 14th. Dr. Mark Korson and Tasia Rechisky talked about Very Long Chain Acyl CoA Dehydrogenase Deficiency (VLCAD) with the genetic counseling students.
Our second speaker series was held on January 21st at Yale New Haven Hospital. Janis Sherwood, Dr. Brailey, Dr. Korson spoke about X-linked Adrenoleukodystrophy.
Final Speaker Series was held on March 4th at University of New England College of Osteopathic Medicine. Maria Rebbecchi and Dr. Korson spoke about GLUT 1 Deficiency Syndrome.
Seventh Speaker Series was on February 26th at Boston University Genetic Counseling Program. Michael and Mary Grace Vestal and Family spoke about Argininosuccinic Acid Lyase Deficiency
Third Speaker Series was held on Feruary 14th at MGH Institute of Health Professions. Kim McCarthy and Dr. Korson spoke about Fabry Disease.
Fourth Speaker Series was held at
Tufts University School of Medicine (Boston, MA). Lina Rebeiz and Dr. Korson spoke about Acute Intermittent Porphyria.
Fifth Speaker Series was held on February 24th at Dartmouth-Hitchcock Medical Center (Lebanon, NH). Timothy Lukovits MD, (Cerebrovascular Disease and Stroke Program at Dartmouth-Hitchcock Medical Center) and Samantha Houle spoke about MoyaMoya disease.
Sixth Speaker Series was held on February 26th at University of Vermont Medical Center (Burlington, VT). Courtney Boutin and Dr. Korson spoke about Carbamyl Phosphate Synthetase Deficiency.
Eighth Speaker Series was on February 29th at Bay Path University GC Program (Springfield, MA). Jennifer Loglisci and Dr. Korson spoke about Urea Cycle Disorder - Cystinosis.
