Medical Advisory Board
Amel Karaa, MD obtained an international Baccalaureate from the Franzoesisches Gymnasium with a major in Biology and Chemistry in Berlin, Germany.
Dr. Karaa completing her doctoral training at la Faculte de Medicine et de Pharmacie de Tunis, in Tunisia. She spent 3 years in the laboratory of Dr. Mark Clemens at the University of North Carolina at Charlotte where she worked on liver microcirculation regulation under oxidative stress from which she has several publications. Dr. Karaa completed a residency in internal medicine at Mount Auburn Hospital, Harvard and a fellowship in clinical genetics through the Harvard Medical school combined program. 

During her career, Dr. Karaa has always been intrigued by rare multi-systemic disorders and has tried to acquire a multidisciplinary training in basic research, clinical research, and medical service that uniquely shaped her to be a competent physician scientist. She is now double board certified in internal medicine and clinical genetics and leading the lysosomal storage disorder and adult mitochondrial clinics at the Massachusetts General hospital in Boston. She has received the 2013 United Mitochondrial Disease Foundation (UMDF) fellowship and is conducting clinical research for both mitochondrial and lysosomal storage diseases as well as clinical trials. 

Dr. Karaa is committed to being an advocate for her rare disease patients and to educate adult providers in recognizing and treating complex patients who are often discounted as having somatization disorders and factitious symptoms.
 RNE Board of Directors
Jessica Shriver, MA Theology, MS Bioethics  is a patient advocate and bioethicist specializing in care and advocacy issues that impact rare disease patients and their families. 

Jessica earned a B.A. in Biochemistry at Smith College in Massachusetts, and worked for three years in biomedical research, studying effects of exercise on human and mouse muscle reconstruction. Jessica attended seminary at Gordon-Conwell Theological Seminary in Hamilton-Wenham, Massachusetts, where she received a Master of Arts in Theology. Jessica earned a Master of Science in Bioethics from Albany Medical College, where her research focused on false accusations of medical child abuse. 

In addition to her work with RNE, Jessica works as a  patient advocate consultant, and has worked with the national non-profit organization MitoAction in their Advocacy Task Force, and Grief Support group. Jessica also works with the Rhode Island-based Anglican Church of the Way, in their Special Needs Ministry. Her research interests include ethical issues in the Rare Diseases community, the ethics of pediatric medical decision-making, false medical child abuse accusations, and pediatric palliative and end-of-life care.

Jessica’s life was impacted by rare disease when her husband and two children were diagnosed with a combination of rare genetic disorders, and her oldest child died of progressive medical problems at age five. 
Lois M. Foster, LICSWis a clinician in private practice in Attleboro, Ma. She received her MSW degree from Boston University. 

Prior to establishing her practice, Lois had a 25 year career in the non-profit sector, formerly the Director of Big Brothers, Big Sisters of Greater Attleboro. Her professional interests include: clinical social work, program development and grant writing, special education and medical advocacy. In addition, Lois has provided supervision and consultation services to community non-profits. 

Lois is the past recipient of the Big Brothers Big Sisters, Distinguished Leadership Award and the Attleboro Council for Children’s Champion for Children’s Award. Lois has severed on the Department of Children and Families, and Triboro Youth Theatre Board of Directors.

 Currently she serves on the Attleboro Council for Children and Rare New England, Board of Directors. Lois can be reached at lfoster6@verizon.net 
Julie Gortze, RN founded what was previously known as Mito New England, in 2013 to allow patients and families find connections and emotional support among those with similar complicated medical problems. She strongly believes in empowering patients with information relevant to their medical issues through educational opportunities, enabling potential for improved quality of lives. 

Realizing many rare and complex disorder communities must overcome societal obstacles to obtain proper medical care and resources, Julie has been advocating for the broader rare and complex disorder community. 

She has worked as an RN in pediatric home care, sub acute care, and acute care.  She has volunteered in several patient advocacy organizations, including MitoAction, United Mitochondrial Disease Foundation and National Organization for Rare Disorders. Julie has been on the planning committee for Rare Disease Day State House events in MA since 2015 and has recently joined as volunteer on the Genetics Conference Planning Committee with New England Regional Genetics Group. Julie collaborates with Mito Hope and Help, in NY, and has volunteered on their Symposium Planning Committee. Julie was involved in the creation of a rare disease council initiative presently forming in CT. 

Julie has personal experience with a complex disease and has learned first-hand what patients and families must deal with while searching for a cause for symptoms. As a nurse, she also understands that the average medical personnel does not have the familiarity for recognizing, diagnosing and treating a complex medical disorder.  She recognizes a need for bridging the gap for patients and families between the busy clinics and available resources to enable more beneficial continuing of care and improved quality of lives. 

Julie has four grown children, loves to spend time with her precious dogs, and walk by the ocean - preferably both at the same time.

Julie can be reached at Julie@rarenewengland.org
Secretary
 Founder/President
Dmitriy Niyazov, MD graduated from University of Rochester School of Medicine and Dentistry with Distinction in Research. He completed a medical genetics residency at Emory University School of Medicine. 

Dr. Niyazov is a Fellow of the American College of Medical Genetics (FACMG) and Board Certified by the American Board of Medical Genetics. He currently holds a title of the Section Head in Medical Genetics at the Ochsner Hospital for Children in New Orleans since, 2008. In addition, he is senior lecturer at the joint medical student program at the Ochsner Clinic Foundation & University of Queensland School of Medicine, Australia. Dr. Niyazov is also a clinical instructor at the combined medical student and residency program at the Ochsner Clinic Foundation & Tulane University School of Medicine. 

Dr. Niyazov has given many talks and seminars on genetics of mitochondrial disease, autism, and neuropsychiatric disorders at Ochsner and other institutions throughout the country; including grand rounds or CME courses including the United Mitochondrial Disease Foundation (UMDF), MitoAction, American College of Medical Genetics (ACMG), Autism One, etc. 

One of Dr. Niyazov's  main professional goals is to bring more awareness to the community  about the role of genetic abnormalities in autism and mitochondrial disease, and the benefits that genetic knowledge can bring to diagnosis and treatment.
John C. Campbell, BS 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.

Mark Korson, MD  graduated from the University of Toronto School of Medicine and completed his pediatric residency nearby at The Hospital for Sick Children. After a fellowship in genetics and metabolism at Boston’s Children's Hospital, he became director of the 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 until 2014.

 In 2015, Dr. Korson co-founded the Genetic Metabolic Center for Education, a comprehensive, multi-modal initiative for improving the level of care for children and adults with metabolic disease. The components of the GMCE include a consultation and clinical support service, as well as a range of live and online educational programming.
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. 

Before the GMCE was established, between 2007 and 2011, Dr. Korson 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 that had no on-site metabolic service. The goal was to provide educational and consultative support so that non-metabolic clinicians could learn how to participate more in the diagnosis and management of patients with metabolic disease. That same year, Dr. Korson also 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. 

Dr. Korson also recognizes the value of involving the patient in the teaching of clinicians and trainees. The faces and voices of patients and family members are found in all GMCE educational programming, not only to increase the likelihood that others can be diagnosed in a timely manner, but to convey to caregivers the patient's perspective on living with a chronic disease and coping with the health care system.
Richard Barnum, MD is a child and adolescent forensic psychiatrist. 

He directed the Boston Juvenile Court Clinic from 1982 to 2003, conducting evaluations of thousands of children and families involved in juvenile court. He was formerly on the faculty of the University of Massachusetts and Harvard Medical Schools, and has written on issues of forensic assessment of children and families and mental health concerns in the juvenile justice system. 

Since 2003, he has been in the private practice of psychiatry, providing consultation and treatment for children and families in community and residential settings. This work has included increasing involvement with children suffering from various hard-to-diagnose medical conditions, including writing and teaching on interactions between physical and psychological processes.
Deborah Dreyfus MD MSc is a Family Physician with a special interest in primary care for individuals with intellectual and developmental disabilities, as well as transitioning care from pediatric to adult primary care.

Dr. Dreyfus completed her residency training of the University of Wisconsin Madison Department of Family Medicine and then obtained her Masters of Science in Epidemiology at Boston University Department of Public Health. She continues to work to improve education in the areas of transition and primary care for adults with intellectual and developmental disabilities.



RNE Medical Advisory Board members have made valuable contributions in service to the rare and complex community and have proved commitment and eagerness for assisting patients and families through their medical odysseys.
Pradeep Chopra, MD,  MHCM is a Pain Medicine specialist with a special interest in complex pain conditions in adults and children. 

Dr. Chopra completed his residency in Anesthesia and Critical Care 
from Harvard Medical School. He completed his Fellowship in Pain Medicine from Harvard Medical School. 

He is now an Assistant Professor (Clinical) at Brown Medical School, Rhode Island, USA and  Director of the Multidisciplinary Pain Management Center. 

He is the recipient of many awards, including The Schwartz Center Compassionate Caregiver Award, which he received in 2013.
Each member of the RNE Board of Directors is dedicated to improving the coordination of care and improving quality of life for patients and families affected by rare and complex medical conditions.

Janet D. Silva, MSF, obtained a Master of Science in Finance from New England College of Business and Finance. She is an Assistant Trust Officer in the Financial Advisory Services Division of Bristol County Savings Bank where she has worked for over 20 years.  

Prior to returning to school in 2011, Janet was the Treasurer for a local Cub Scout Pack and was on the Activities Committee for the Anawan Council of the Boys Scouts of America. She has also been a member of an Interagency Committee in Massachusetts which focused on the transportation needs of children and families with special needs.

Treasurer
Director
Director
Director
Director
RNE Committee Members
Debra McEleney is currently the Administrative Manager for The Sheridan Center for Teaching and Learning at Brown University. Debra has worked for New Hope and Big Brothers Big Sisters of Attleboro. A recent empty nester, Debra plans to utilize her time and professional skills to assist local non-profit organizations with outreach and fundraising activities. Debra is a loyal NE Patriots fan. She and her husband currently live in Taunton Massachusetts.  
Rita Mauss is a Territory Business Manager- LSD Genetics for New England South at Shire Pharmaceuticals.  She has 17 years of experience in bio-pharmaceutical. Key areas of expertise include: sales leadership, patient and market access, reimbursement, business-to-business collaboration, and sales training and development. Areas of therapeutic expertise include: Rare Disease, Hematology/Oncology, Immunology—Rheumatology, Neurology—Multiple Sclerosis, Epilepsy, Movement Disorders, Pain Management, and Psychiatry—Bi-polar, Schizophrenia, ADHA, and Cardiovascular Disease. Her passion is to help patients during their journey. She joined the following organizations: Multiple Sclerosis Society, American Lung Association, Stand Up to Cancer- Coast 2 Coast 4 Cancer Ride (BMS), to create awareness and raising funds for research.