Rare Disease Report


Carri Levy is the health producer for the morning talk show on Lifetime TV, The Balancing Act , and the creator of Behind the Mystery Rare
Kendra Gottsleben is a Marketing Communication Specialist, author, and spokesperson on living a life with a rare disease and disability. She has defined her life by a positive outlook and success in overcoming obstacles, and refuses to be defined by MPS — the rare genetic condition she has had since birth.
My name is Beth Nguyen and I am a happily married mother of two children, registered nurse, and CEO
Ricki Lewis, PhD is a science writer with a PhD in genetics. She is author of several books on genetics (“The Forever Fix: Gene Therapy and the Boy Who Saved It,” “Human Genetics: Concepts and Applications,” “Human Genetics: The Basics,”) and blogs at “DNA Science” for Public Library of Science.
Jennifer’s valuable and insightful perspectives as a federal employee, public health servant, and adult with PKU, mother of 3 nonPKU children, advocate and primary stakeholder are complimented by her passion and professional experiences in pharmacy and public policy. Jennifer’s experiences encompass numerous written avocations, testimony at FDA public meetings, as well as lobby efforts on Capitol Hill, teaching, and participation in various orphan disease summits, conferences, campaigns, and local and global observances of relevance to patients with rare disorders.
Candace is a rare disease patient, blogger and advocate with Immune Thrombocytopenia. She is the Volunteer Director for the Rare Disease United Foundation in Florida. Candace has done extensive work for repurposing FDA approved drugs and creating legislation for rare disease patients. She is a J.D. Candidate at Nova Southeastern University.
Monica Weldon is a mother of five, wife, teacher and the President of Bridge the Gap - SYNGAP Education and Research Foundation. Her passion is to raise awareness and educate the public about SYNGAP. Her hope is that one day an effective treatment or cure for this rare neurological disorder will be found that effects her own son Beckett.
Reta is an experienced RNC (registered nurse certified) in medical education; a degree in education led to teaching nurses and other health occupations. As a hospital Director of Education, she established and directed CME programs accredited by the ACCME. Reta is Founder and President/Executive Director of the Tarlov Cyst Disease Foundation, a 501 (c) (3) non-profit organization focused on Tarlov/perineural cysts, a rare spinal nerve pathology. www.tarlovcystfoundation.org
Lisa Schill is a parent advocate, dedicated to improving the lives of those living with rare diseases. Ms. Schill specializes in connecting caregivers, researchers, support organizations and families to help support patients in the pursuit of advancing treatment options and patient outcomes. She currently serves as Vice President of the RASopathies Network, a non-profit dedicated to advancing research of the RASopathies by bringing together families, clinicians and scientists. She is currently working as a Meetup Advocacy Ambassador for Global Genes facilitating rare disease meet ups for the aHUS (Atypical Hemolytic-Uremic Syndrome) population. She is a co-investigator for the 2015 International Meeting on the Genetic Syndromes on the RAS/MAPk Pathway to be held in Seattle, WA with the co-chairs, Drs. David Stevenson and Brigitte Widemann.
Kyle is the founder and CEO of PatientCrossroads, a provider of patient registry solutions to the rare and neglected disease community. PatientCrossroads collects patient provided medical history and testing results in order to gain insight into disease progression and to recruit patients for inclusion in clinical studies and trials. Kyle is a respected authority on rare disease patient registries and is a frequent speaker at research conferences educating the non-profit and research community on the need for universally accessible, de-identified patient information. Kyle's passion is to change the economics of patient provided information from closed, proprietary access, to universally available self-funding programs that accelerate disease research.
Timothy Craig, DO, is Professor of Medicine and Pediatrics, Division of Pulmonary, Allergy, and Critical Care, and Distinguished Educator at Pennsylvania State University in Hershey, Pennsylvania, where he is also Chief, of the Allergy/Immunology Section, Director, Allergy and Respiratory Clinical Research. and Allergy, Asthma and Immunology Program Director.
Senior health care practitioner, executive, and educator with a broad base of experience from positions in clinical pharmacy practice, clinical research, university teaching, medical communication and publishing, pharmacy benefit management, nonprofit patient advocacy, and executive leadership, informed by formal education and training in pharmacy, research methods, bioethics, and medical humanities. These experiences provided a deep understanding of how health care standards are developed and translated into clinical practice, how the many and varied dimensions of domestic and international health care systems operate and affect individuals, populations, and institutions, how well current health care professions education and training programs prepare students for their professional roles, and how illness figures in the human condition.
Over the course of the last decade, first as a graduate student at Harvard and then as an independent postdoctoral fellow at Princeton, Dr. Ethan Perlstein developed an approach to studying complex drugs in simple model organisms called evolutionary pharmacology. Last year Dr. Perlstein left academia in the face of “postdocalypse,” declared scientific independence, and decided to apply evolutionary pharmacology to orphan/rare diseases. His journey of professional reinvention includes forays into tweeting, blogging, and crowdfunding. It culminates in Perlstein Lab, PBC, a San Francisco-based biotech startup and public benefit corporation that is focused on precision orphan disease drug discovery.
Sean divides his time between clients at Collaborations In Chemistry which currently includes: Collaborative Drug Discovery, the Hereditary Neuropathy Foundation as well as biotechs and other companies. In addition he is CEO and President at Phoenix Nest focused on rare disease drug discovery.
Melissa Hogan is a lawyer, author, and speaker on behalf of rare disease families. She is the Founder and President of Saving Case & Friends, a Hunter Syndrome research & advocacy foundation, and writes and speaks on rare disease topics, including the SavingCase.com blog that is read in over 100 countries. She also speaks about the role of social media in rare disease, serves on the external advisory board for the Mayo Clinic Center for Social Media, and coordinates the Hunter Syndrome Research Coalition. She recently produced and released a powerful social media-based awareness and fundraising campaign at ProjectAlive.org.
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