The people who make up Rare New England have all worked in service to the rare and complex community and have proved commitment and eagerness for assisting patients and families through their medical odysseys.
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Our Board of Directors, including founder and CEO Julie Gortze, dedicate their time to making key decisions about RNE's goals, direction, and future, so that we may best continue to serve the rare disease community and all those touched by rare disease.
Founder/President
Julie Gortze is a registered nurse who has worked as an RN in pediatric home care, subacute care, and acute care. 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 and then receiving a diagnosis that has no cure.
As a nurse, she also understands that the average medical personnel does not have the familiarity or sufficient education for recognizing, diagnosing and treating a complex medical disorder. She strongly believes in empowering patients with information relevant to their medical issues through educational opportunities, enabling potential for improved quality of life. Julie is a certified patient advocate having taken The Professional Patient Advocate Certificate Training Program through Decision Health University in 2016.
In 2013, Julie founded a support group that was previously known as Mito New England to allow patients and families to find connections and emotional support among those with similar complicated medical problems due to Mitochondrial Disease. 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.
Julie is a member of the New England Regional Genetics Group Steering Committee and Vice Chair of North Attleboro Commission on Disabilities. She is a Rare Disease Advisory Panel Member through Patient-Centered Outcomes Research Institute (PCORI). Julie has been involved in legislative efforts for the creation of a rare disease task force initiative through CT legislation and has been championing a similar bill, “An Act to Create a Rare Disease Advisory Council” in MA that would provide a group of rare disease stakeholders to form a committee to investigate issues in the rare disease community and collaboratively find solutions.
Julie has four grown children, loves to spend time with her precious dog, and walk by the ocean - preferably both at the same time.
Contact: julie@rarenewengland.org
Vice President
Kevin is a seasoned drug developer with outstanding people skills. During his 30-year career with Pfizer, Kevin held many varied roles that have given him a broad and deep understanding of the Drug Discovery and Development Process.
Kevin has a passion for helping people see the “bigger picture” so that they can achieve their most important goals. Much of his career was spent teaching other colleagues and stakeholders how R&D works. In 1998, he and a colleague established Pfizer Research University (PRU) which helped expert drug researchers and developers to teach what they knew. He later led several development teams as Project Manager, including a few rare disease projects. Kevin retired as the head of the Portfolio and Project Management Operations Excellence Group.
After retiring from Pfizer, Kevin started Salem Oaks®. Salem Oaks’ purpose is to empower patients to shape the future of medicine® by providing educational programs about Drug Discovery and Development. They work with patient organizations and disease foundations to develop educational tools and programs that they can offer to their communities. The goal is to help the non-profits build capacity. Salem Oaks’ primary focus is helping people learn the inside story of how drugs are discovered and developed. They do this through online and live courses and through their two podcasts.
Kevin is also the host of the Improbable Developments and Raising Rare podcasts.
Contact: kevin@rarenewengland.org
Treasurer
Ruth Segall is a life sciences industry professional, currently leading regulatory affairs strategy and submissions for the global medical device leader, Arthrex, Upper Extremity business unit.
Ruth Segall is a life sciences industry professional, currently leading regulatory affairs strategy and submissions for the global medical device leader, Arthrex, Upper Extremity business unit. She was diagnosed with a rare disease, Growth Hormone Deficiency, at age 8, and is a lifelong patient of drugs and devices. She overcame many health challenges to fulfill an NCAA D1 cross country and track career, including suffering from stress fractures and women’s health complications. In her free-time, she is on the lookout for solutions to the problems she endured and observed. Ruth voluntarily mentors entrepreneurs on their business plans and fundraising pitches for startup companies that do not conflict with her current employer, only in their early- stages of spinning out of university and accelerator programs. She completed Venture Capital (VC) University, a joint initiative between Berkeley Law, Venture Forward and the NVCA, where she was awarded the Life Sciences Scholarship from leading VC firms. During her graduate degree at the University of Pittsburgh, she interned with the life sciences capital growth firm, LifeX, in their accelerator program, and joined the founders of the Carnegie Mellon University spinout, Advanced Optronics, and led business development efforts, including raising non-dilutive capital and pitching the surgical sensing startup at the Rice Business Plan Competition Finals. Ruth also interned in regulatory affairs at the global strategic, J&J, in their orthopedic business, DePuy Synthes, trauma and extremities portfolio, and supported a FDA Breakthrough Device Designation. Ruth holds a BS in Cell Biology/Biochemistry from Bucknell University as a Dean of Arts and Sciences Scholar (2021) and a MS in Bioengineering and Medical Product Engineering from the University of Pittsburgh (December 2022) as a Graduate Engineering Education Scholar.
Contact: ruth@rarenewengland.org
Secretary
Tasia Rechisky was diagnosed as an infant with a rare metabolic disorder, Very Long Chain Acyl Coa Dehydrogenase Deficiency (VLCADD). She has spent the last ten years as a patient advocate.
As a patient advocate, she speaks about her lived experience, emphasizes the impact of living with a rare disease, works with pharmaceutical companies and other organizations to improve resources in the rare disease space, and fights on behalf of rare disease legislation. She was a Committee Member for Rare New England (RNE) and recently helped organize the first international metabolic conference with Mitoaction and testified at the FDA for a medical trial she has been on for fifteen years leading to their approval.
Contact: tasia@rarenewengland.org
Director
Lois, LICSW, is 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.
Contact: lois@rarenewengland.org
Director
Haley Director is a PhD student at the University of Pittsburgh School of Public Health in Health Services Research and Policy.
Haley has been interested in genetics and rare diseases since first learning about the impact that rare diseases have had on her family. She entered public health to increase access to and accessibility of genetic testing and genetic services. Throughout her undergraduate coursework, Haley noted the lack of uniform insurance coverage for genetic testing; this inspired her to focus her studies on policy during her masters' studies and beyond. Haley has served as a Public Health Genetics intern for the New England Regional Genetics Network (NERGN) and leadership roles, including Policy Chair, for the American Public Health Association (APHA) Genomics Forum. In her spare time, Haley loves to watch sports, especially Bruins hockey, spend time outside, read, swim, and dance.
The RNE staff works hard to make our day-to-day operations go smoothly, whether it be communication and outreach through our social media channels or assisting in setting up our major programs. Our conferences, talks, and meetings happen because these individuals help make them so.
Executive Director
Nicole White is a certified Community Health Worker who has over six years’ experience working in nonprofit management within organizations that support those living with rare and complex health conditions. She also has over eleven years’ experience in medical administration and management, while working at a local level one trauma center in Rhode Island. Most recently, Nicole was the Director of Program Services at A Wish Come True, also in RI, where she advocated for more family and patient involvement and assisted in expanding their mission to now providing much needed wellness and hardship programs for those whom they serve. With this work along with her previous advocating experiences, Nicole was nominated and awarded as a recipient of Providence Business News “Forty Under 40” Program in 2021.
Nicole also has personal experience in the rare disease space as her son was born with a rare birth defect called Gastroschisis (while in utero, the abdominal wall does not close completely, leaving the intestines and sometimes other organs to develop on the outside of the body). In April 2012, Nicole’s son Kyrie was born with the majority of his small intestine, liver, gall bladder, and part of his stomach on the outside of his body. Six days after he was born, surgeons removed the majority of his small intestine, leaving him with a diagnosis of Short Bowel Syndrome aka “SBS or short gut” and dependent on IV nutrition as well as a feeding tube to survive. Nicole is also an advocate for her husband Garrick, as well as other family members living with complex medical conditions. She is happy to say that both her son and husband are both thriving and doing well.
In 2016, Nicole founded a local nonprofit called the Short Bowel Syndrome Foundation for Children of New England (SBSNE) in which she partnered with a fellow SBS mother from CT to fulfill the mission. While the npo still exists, it is currently not active. During their efforts, SBSNE supported multiple families providing them with resources such as monthly stipends for nutrition support, assistance obtaining medical supplies, and connecting families to resources to name a few.
Nicole has also served as a member of the Family Advisory Council for Hasbro Children’s Hospital in Providence, RI since 2014.
Social Media Coordinator
Ashley Kennes is a New England native and began working as the Development Consultant for RNE in February 2019, since then she has moved over to the role of Social Media Coordinator. She is a certified Genetic Counselor at Maine Medical Center and enjoys seeing patients in the cancer risk and prevention clinic. In the past, she has volunteered her time to other non-profit organizations by planning and participating in the Relay for Life for the American Cancer Society and Dance Marathon for the Children's Miracle Network. When not working, Ashley likes to play volleyball, read, and spend time with friends and family.
The Medical Scientific Advisory Board is comprised of doctors, researchers, and counselors who contribute their expertise in the rare disease field toward making sure our content is accurate and up-to-date. We want the best information to reach those in our community and the MSAB makes sure that happens!
Dr. Brailey obtained her undergraduate degree in biology from Harvard University and her medical degree from the University of Connecticut. She completed residency and fellowship training in genetics at Yale University and is board-certified in clinical genetics, cytogenetics, and molecular genetics. She is currently an assistant professor and associate director of tumor cytogenomics at Mount Sinai Medical Center in New York City, and serves on the board of directors of the New England Regional Genetics Group.
Dr. Brailey has also served as Associate Director of Cytogenetics at Ameripath Northeast (Quest Diagnostics) and as Technical Director of Molecular Diagnostics and Clinical Trials at Dianon Systems (Laboratory Corporation of America), both in Shelton, CT and has been adjunct faculty at the University of Connecticut and the University of New Haven. Her interests include DNA sequencing and data analysis, genetics education and outreach, and metabolic disease. She and her husband, Bob, reside in Derby, CT, where she enjoys hiking, swimming, playing the violin, reading, and promoting community engagement.
Following his graduation from Trinity College (CT) and Harvard Medical School, Dr. Weinstein did a residency, chief residency, and fellowship in pediatric endocrinology at Boston Children's Hospital. He subsequently obtained a Masters in Clinical Investigation from Harvard and MIT, and became Director of the Glycogen Storage Disease Program at Boston Children's. In 2005, Dr. Weinstein moved to the University of Florida where he directed the Glycogen Storage Disease Program and became a tenured professor. He and his team moved to the University of Connecticut and Connecticut Children's Medical Center in 2017 to perform gene therapy for GSD. In 2020, he left the academic world to serve as Vice President of Clinical Development and the medical lead for the GM1 gangliosidosis gene therapy trial at Passage Bio. At the time of his departure from clinical care, Dr. Weinstein was following over 700 glycogen storage disease patients from 49 states and 52 countries.
Dr. Weinstein has published over 100 publications on glycogen storage disease and gene therapy for rare diseases. In 1989, he was named as one of the inaugural Goldwater Scholars. He is a former Jan Albrecht Award winner from the American Association for the Study of Liver Diseases, and he was the George Sacher Award winner from the Gerontological Society of America. In 2013, Dr. Weinstein was honored with the Order of the Smile international humanitarian award, and he was knighted in Poland. He has also been inducted in the Rare Disease Research Hall of Fame.
Dr. Amy Kritzer is an attending in the Division of Genetics and Genomics at Boston Children’s Hospital. She graduated from the Albert Einstein College of Medicine in Bronx, NY. 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 Children’s Hospital.
Her clinical work is focused on the care of children and adults with rare metabolic disorders. She serves as physician lead for Quality Improvement in the Division of Genetics. As QI lead, she creates and implements patient care initiatives designed to improve patient safety and patient and family experience. Her work is dedicated to addressing the psychosocial needs of patients with rare diseases. She serves as a Principal Investigator for several lysosomal storage disease registries, 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.
Kathleen Swenson is the current Program Director for the Master's Program in Genetic Counseling at Boston University School of Medicine. She is a graduate of Sarah Lawrence College and holds a Master of Public Health from Columbia University. Throughout Kathleen's career, she has provided clinical care across multiple specialties, advocacy work at the national level and local levels, and held positions in industry as a Medical Affairs Genetic Counselor.
Kathleen Swenson is the current Program Director for the Master's Program in Genetic Counseling at Boston University School of Medicine. She is a graduate of Sarah Lawrence College and holds a Master of Public Health from Columbia University. Throughout Kathleen's career, she has provided clinical care across multiple specialties, advocacy work at the national level and local levels, and held positions in industry as a Medical Affairs Genetic Counselor. Her professional interests include inter-professional education, improving access to genetic counseling services for underserved populations and raising awareness of rare disease.
