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Speakers

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Christopher Austin
M.D.
Director
NCATS/NIH
Christopher Austin is Director of the NCATS at the NIH. NCATS’ mission is to enhance the development, testing, and implementation of diagnostics and therapeutics through collaboration with various agencies. Dr. Austin directed research and drug development at Merck, focusing on schizophrenia. He was elected chair of the International Rare Disease Research Consortium. He earned his M.D. from Harvard Medical School, clinical training at MGH, and a research fellowship in genetics at Harvard.
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Munther Baara
New Clinical Paradigm
Pfizer
Munther has over 20 years of experience in the pharmaceutical industry. He is currently Sr. Director of Development Business technology at Pfizer, a worldwide pharmaceutical company. Munther is the head of New Clinical Paradigm within the WRD-BT Development at Pfizer, and is spearheading initiatives driving innovation in development operations to align with the paradigm shift in the clinical trials execution model and emerging technologies.
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Annette Bakker
Ph.D.
President and Chief Scientific Officer
Children's Tumor Foundation
Annette, a Ph.D. in Biochemistry, has leadership experience in both the academic and pharma/biotech research enterprise in Italy, Belgium, France, and the USA. Intrigued by the observation that the path from great basic discoveries to equally great clinical benefit is bumpy and often inefficient, she joined the Children’s Tumor Foundation (CTF) in order to try and smooth the path for neurofibromatosis (NF), a rare genetic disorder
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Jennifer Bernstein
Executive Vice President
Horizon Government Affairs
Jennifer spent several years on Capitol Hill before joining Horizon Government Affairs in 2008. She focuses on legislative and regulatory catalysts within the biopharmaceutical sector, particularly those impacting the rare disease community. A native of Chicago (go Cubs!), Jennifer currently resides in Falls Church, Virginia with her husband, three children, and two rescue dogs.
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Peter Binkley
Designer
The Brain Recovery Project
Peter Binkley is a designer of open-source 3d printed mechanical assistive devices for The Brain Recovery Project. Peter engages with designers, medical professionals, schools, government agencies, and private companies to meet the needs of patients who can benefit from advances in open-source assistive design.
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Todd Bledsoe
Associate Director, Advocacy Development
Teva Pharmaceuticals
Todd has 20 years of public and private sector experience working in healthcare policy and advocacy. He currently serves as an Associate Director of Advocacy Development at Teva Pharmaceuticals. He previously worked at Bristol-Myers Squibb and at Eli Lilly and Company. Todd served as an Associate Director of Intergovernmental Affairs at the White House, under President Clinton and worked on the Patient’s Bill of Rights and S-CHIP. He received his BA from University of Kentucky in Political Science.
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Bruce Bloom
D.D.S, J.D.
Chief Executive Officer
Cures Within Reach
Dr. Bruce Bloom is President and Chief Science Officer of Cures Within Reach, a non-profit saving lives by repurposing human approved drugs and devices to quickly deliver safe and affordable treatments and cures for diseases that currently have none. Cures Within Reach uses CureAccelerator, the only global online repurposing research collaboration platform, to bring together patients, clinicians, researchers, funders, and industry to create and conduct repurposing clinical trials.
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Betsy Bogard
Chair, Research Committee, International FOP Association
International FOP Association
Betsy Bogard works in the rare disease community to support development of transformative therapies. She is currently in Medical Affairs at Bluebird Bio, a biotechnology company based in Cambridge, MA developing gene therapy as a potential one-time treatment option for rare diseases and cancer. She also serves as Research Committee Chair for the International FOP Association, a non-profit patient organization for the rare disease fibrodysplasia ossificans progressiva (FOP).
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Mousumi Bose
Ph.D.
Medical/ Scientific Research Liaison
The Global Foundation for Peroxisomal Disorders
Mousumi Bose is the mother of Ilan, who was born with a severe form of Zellweger spectrum disorder. Dr. Bose joined the Global Foundation for Peroxisomal Disorders (GFPD) as the Medical and Scientific Research Liaison in 2012. Her long-term goal is to conduct patient/family-centered research in rare metabolic diseases such as ZSD. Dr. Bose is passionate about continuing to learn about ZSD and other rare diseases and helping other rare disease families by using her knowledge and experience.
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Kimberly Bower
M.D.
Chief of Palliative Medicine
Rady Children's Hospital San Diego
Kimberly Bower, M.D. FAAHPM HMDC is Chief of Palliative Medicine at Rady Children’s Hospital San Diego (RCHSD) and the Medical Director of the Kids Care Pediatric Program at Scripps Hospice. As part of her position at RCHSD she oversees the supportive home-care program which services approximately 100 patients each day. Prior to her role at RCHSD, she was a clinical Medical Director at San Diego Hospice and the Institute for Palliative Medicine working with the Children’s Program.
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Sarah Boyce
SVP and Chief Business Officer
Ionis Pharmaceuticals
Ms. Boyce is Chief Business Officer of Ionis Pharmaceuticals. In this newly created position reporting to the Ionis Chief Operating Officer, she provides strategic leadership from a commercial background. Ms. Boyce is responsible for overseeing the operations of corporate communications, business development, alliance management, competitive intelligence, and patient advocacy. She joined Ionis in January 2015.
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Tara Britt
Associate Chair, NC Rare Disease Advisory Council; Founder, NC Rare Disease Innovations Institute
UNC-CH School of Medicine Rare Disease Advisory Council & NC Rare Disease Innovations Institute
Tara J. Britt Associate Chair, NC Rare Disease Advisory Council and Network, Founder and Director, NC Rare Disease Innovations Institute (NC RDII). Tara has been working in the Gene Therapy space primarily for the last 8 years which led to her working with patient advocates in rare diseases. She co-wrote legislation to create an Advisory Council for Rare Diseases in North Carolina which was signed into law in August, 2015. In 2017, she started a nonprofit, NC Rare Disease Innovations Institute.
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Max Bronstein
Senior Director, Health Policy & Corporate Affairs
Audentes Therapeutics
Max G. Bronstein is the Senior Director of Health Policy & Corporate Affairs at Audentes Therapeutics. At Audentes, Max leads company interactions with policymakers and works with coalitions to advance patient-focused policies for gene therapy and regenerative medicine. Previously, Max was the Chief Advocacy & Science Policy Officer at the EveryLife Foundation for Rare Diseases where he lead efforts to improve newborn screening and close the innovation gap.
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Tisha Brown
J.D.
Principal
Austin Independent School District
Tisha P. Brown, J.D., is the proud principal of an elementary school in Austin Independent School District. After receiving her Juris Doctorate degree in 1993, Tisha worked as an Assistant District Attorney. In 1997, she switched careers and began working in education as a teacher. Tisha taught elementary school for 12 years. She received her Master’s of Education Degree from the University of Texas at Austin. She served as the principal of a small private school prior to returning to public school this year.
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Melissa Bruebach
Financial Analyst
HealthFitness Corporation
Melissa was diagnosed with FKBP14 Related Ehlers Danlos Syndrome in 2016. She then became more passionate about advocating for the genetic counselors’ roles in the care team. In her free time, when she’s not playing with numbers or talking about genetics, Melissa loves to cook, spend time with her family, travel and volunteer. Cooking has been a passion for her for many years, she loves trying new recipes and she would do almost anything for a donut.
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Melissa Bryce Gamble
Co-Founder
The Global Foundation for Peroxisomal Disorders
After learning that her daughter, Ginny, was diagnosed with a Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD), Melissa Bryce Gamble set out to find parents facing a similar fate. She found a small community of parents supporting one another. Melissa’s desire to raise funds for research, support families, and promote awareness of PBD-ZSD led to the formation of the GFPD. Melissa served as Treasurer of the GFPD and as President of the GFPD. Ginny, passed away April 25, 2015. .
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Matthew Burkhardt
Scientist
Self Bio, Inc.
Matthew has worked in disease modeling and drug discovery in the academic, startup, and pharmaceutical sectors for fifteen years. With iPierian in 2009, Matthew began working with the iPSC platform. Since that time, he has worked to differentiate disease-relevant, iPSC-derived cell types in neurological and cardiovascular rare diseases for phenotypic interrogation with small molecule candidates.
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Sean Burns
Ph.D.
Medical Director
Intellia Therapeutics
Dr. Burns joined Intellia in July 2015 from Massachusetts General Hospital and the Broad Institute, where he applied human genetics and genome engineering to identify new disease pathways. He brings extensive experience with CRISPR/Cas9 to his role as Medical Director at Intellia Therapeutics, leading the effort to identify novel therapeutic targets, serving as the medical liaison to the Discovery and Business Development teams, and advancing the translational medicine and clinical programs.
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Meredith Cagle
MPH
Patient Engagement Director
Global Genes
Meredith Cagle has over twenty years of management and program development experience with a focus on the public and non-profit sectors. Meredith has been with Global Genes since August 2016 and currently serves as the Patient Engagement Director. She earned a Bachelor of Science Degree in biological sciences from the University of California, Irvine and a Master of Public Health degree with an emphasis in community health education and promotion from the University of California, Los Angeles.
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Kevan Chandler
Founder
We Carry Kevan
Kevan Chandler has a Bachelor’s of Arts in Counseling from John Wesley University. He's worked in prison ministries and drug rehabilitation centers around the southeast United States. An avid storyteller, he is author of three novels and a commentary on the Gospel of John. Kevan is also the founder of We Carry Kevan, a nonprofit response to his journey across Europe last summer.
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Caroline Cheung
Patient Advocate & Founder
San Diego Undiagnosed Family Support Group
Caroline Cheung-Yiu is the mother of a 12 year old boy with an undiagnosed progressive neuro degenerative condition. In 2014, the sixth year of relentlessly seeking a diagnosis for her son’s constantly shifting illness, she established the San Diego Undiagnosed Family Support Group which connects families lacking a diagnosis for their child and empowers them with local resources to forge ahead in their diagnostic odyssey.
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Eileen Clark
President
Association of Child Life Professionals
Eileen has over 25 years’ experience as a child life specialist with a clinical focus in oncology, palliative care and bereavement. She is currently the President of the Association of Child Life Professionals and serves as a Family Services Manager with oversight to Child Life and Expressive Therapies, Spiritual Care, Bereavement and Volunteer Services at Children’s Hospital of Wisconsin.
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Brenda Conger
Founder and Parent Advocate
Cardio-Facio-Cutaneous International
Brenda Conger incorporated CFC International after three years trying to find a diagnosis for her son. The organization has grown to 550 International families and established a BioBank of DNA and clinical data which were pivotal in the CFC gene discoveries. Brenda has created a newsletter, syndrome brochure, Parent’s Guide, website, computer list server, and hosted 9 International Conferences and medical consult programs. She has a BS from Bloomsburg University and MS degree from Binghamton University.
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John Crowley
J.D.
Chairman and CEO
Amicus Therapeutics
John F. Crowley is Chairman and CEO of Amicus Therapeutics. John's involvement with biotechnology stems from the diagnosis of two of his children with Pompe disease. In his drive to find a cure, he left his position at Bristol-Myers Squibb and became Co-founder, President and CEO of Novazyme Pharmaceuticals, a biotech start-up conducting research on treatment for Pompe disease. Novazyme was acquired by Genzyme Corporation and John continued on as Senior Vice President, Genzyme Therapeutics.
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Mark Dant
President & CEO
National MPS Society
Mark founded the Ryan Foundation shortly after their only child Ryan was diagnosed with MPS I. The Ryan Foundation has funded millions in research that lead to the development of the first drug approved to treat MPS. In 2009, Mark and his family championed Congress to pass the Ryan Dant Health Care Opportunity Act. Mark, a police officer for 32 years, retired as an Assistant Chief of Police with the Carrollton Texas Police Department and is now the President/CEO of the National MPS Society.
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Kendall Davis
MPH
Senior Manager, Corporate and Foundation Alliances
Global Genes
Kendall Davis is the Senior Manager, of both Corporate and Foundation Alliances at Global Genes. Kendall has previously held key roles in patient advocacy and patient education in both the nonprofit and biopharmaceutical industries. Kendall’s passion is to improve the health outcomes of individuals living with rare diseases while creating strategic advocacy and awareness campaigns. Kendall holds a Master’s Degree in Public Health from Michigan State University as well as a Bachelor’s of Science from Loyola University, Chicago.
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Ben Duvall
We Carry Kevan
Ben Duvall is the worship leader at Highland Gospel Community, in Fort Wayne, Indiana. He was one of the first to join the We Carry Kevan team and continues to travel as care support for Kevan. Ben is also one of Kevan's primary caregivers at home and can make a mean apple pie when he's in the mood.
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Aris Economides
Ph.D.
Vice President of Research
Regeneron Pharmaceuticals, Inc.
Dr. Aris N. Economides currently holds the position of Vice President, leading two groups: Genome Engineering Technologies, and Skeletal Diseases Therapeutic Focus Area. In addition, he is a co-founder of Regeneron Genetics Center (RGC), where he is also Head of Functional Modeling. His research interests include drug development in FOP. Recently, he and his team discovered a novel mechanism that explains important aspects of FOP’s pathophysiology and pinpoints a new potential route to therapy.
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Karen Erickson
Associate Executive Director
Alpha-1 Foundation
Karen Erickson is an Associate Executive Director at the Alpha-1 Foundation. She currently sits on the Scientific Business Advisory Council of The Alpha-1 Project, the Clinical Trials Transformation Initiative steering committee, the American Thoracic Society Public Advisory Round Table. Karen received a bilateral lung transplant in 2013 due to alpha-1. She has experience in performance management, clinical operations and product/process development.
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Mary Erickson
Ph.D.
Senior Director, Medical Affairs External Research
Intercept Pharmaceuticals
Mary Erickson is currently Senior Director of Medical Affairs, External Research at Intercept Pharmaceuticals, a company developing bile acid derived therapeutic agents. Their first drug, obeticholic acid, was approved in 2016 for the treatment of patients with primary biliary cholangitis (PBC), a rare autoimmune liver disease. Mary holds a Ph.D in Molecular Biology and has held various positions in drug discovery and medical affairs throughout the pharmaceutical industry over the last 20 years.
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Melissa Farman
Actress, Writer, Producer, Director
Best known for her role of Young Danielle Rousseau on the runaway ABC hit series “Lost.”. Melissa also played opposite: Claire Danes in HBO’s award-winning “Temple Grandin;” Julianne Moore, Woody Harrelson and Ed Harris in the HBO telefilm “Game Change;” Melissa Leo in Sony Pictures’ critically acclaimed “Call Me Crazy;” and Eric McCormack and Mariska Hargitay in Emmy-award winning “Law & Order: SVU.” Melissa has also played challenging and diverse roles in an assortment of television series including: “Elementary,” “Cold Case,” “CSI” and “NCIS.” Most recently, Melissa was a series lead, playing Dr. Rebecca Blithely, a brilliant autistic doctor, in the period western “Strange Empire,” on Netflix.

Not one to neglect her other passion, Melissa graduated Summa Cum Laude in 2013 from the University of Southern California’s Thematic Option Honors Program, where she majored in Political Science and English Literature, a subject she especially enjoys and parlays into her craft. “English is the study of human relationships and storytelling,” Melissa observes. “And acting gives you the freedom to bring the words to life.” In 2016 Melissa wrote, produced and directed “Ready”, her first short film.
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Tony Ferrandino
Founder
Drew Michael Taylor Foundation
Tony founded Drew’s Hope with his wife Katie, when their son Drew, who passed away in 2014, was diagnosed with Batten disease. He has used his personal experience to fuel his passion for advocacy and serves on the Board of Directors for the BDSRA and works closely with the Scientific Advisory Board. He received a Portrait of Courage Award in 2015 from the NORD. Tony is a Senior Financial Advisor at Merrill Lynch and he focuses on helping families with special needs children prepare financially.
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Erin Frey
Senior Director of External Affairs and Business Development
Baebies
Erin is a corporate affairs executive with 17 years of experience in the healthcare industry, including her current position as Senior Director of External Affairs and Business Development at Baebies. Baebies’ sole focus is to advance newborn screening and pediatric testing. Erin won a Jefferson Award for Volunteerism. She is a Public Affairs Institute Fellow, certified in Business Administration from Benedictine University, and received her BS from the University of Illinois.
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Dekel Gelbman
LL.B, MBA
CEO
FDNA
Mr. Dekel Gelbman leads the corporate and business strategy of FDNA that turned an early stage computer vision technology into an innovative digital health platform and database used by thousands of clinicians, researchers and labs globally in the evaluation of rare genetic disease patients. Mr. Gelbman holds an LL.B and an MBA in finance.
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Allison Goetsch
MS, CGC
Genetic Counselor
Ann & Robert H. Lurie Children’s Hospital of Chicago
Allison Goetsch is a pediatric genetic counselor in the Division of Genetics at Ann & Robert H. Lurie Children’s Hospital of Chicago and clinical instructor in the Department of Pediatrics at Northwestern University Feinberg School of Medicine. Allison was the 2016 “CodeTalker” award winner, which is a patient nominated national award for excellence in genetic counseling. Her research interests lie in the healthcare transition process, as well as fertility preservation and family planning.
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Melissa Goetz
President and Co Founder
FCS Foundation
Melissa Goetz is Co-Founder and President of the FCS Foundation (Familial Chylomicronemia Syndrome). Her middle daughter was diagnosed as an infant. She lives in Albany, New York with her three children and husband.
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Steven Gray
Ph.D
Assistant Professor
University of North Carolina at Chapel Hill
Dr. Gray earned his Ph.D. in molecular biology from Vanderbilt University in 2006, after receiving a B.S. degree with honors from Auburn University. He performed a postdoctoral fellowship focusing on gene therapy in the laboratory of Jude Samulski at UNC. He is currently an assistant professor at UNC in the Department of Ophthalmology. Dr. Gray is also a member of the Gene Therapy Center and the Carolina Institute for Developmental Disabilities.
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Gay Grossman
Parent Advocate and Founder
ADCY5.org
Gay uses her experience to support organizations that work within the medical system, which is often viewed as complicated and overwhelming. She can make situations that are unknown and often scary, more manageable. Gay is driven by helping patients and their families understand how healthcare diagnosis is changing, being diagnosed with a Rare Disease, and how to live a full life in this world after a diagnosis.
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Steve Grossman
Co-Founder and Executive Director
ADCY5.org
Steve Grossman is co-founder of ADCY5.org. He advocates patient-driven rare disease research and collaboration. ADCY5.org is part of a ground-breaking rare-disease induced pluripotent stem cell (iPSC) project spearheaded by Rare Science and the California Institute for Regenerative Medicine. This effort can accelerate treatment discovery by using differentiated iPSCs. With the cells, researchers can better understand the ADCY5 variant’s basic biochemistry and perform compound/drug screens.
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Jennifer Hall
Ph.D.
Chief, Institute for Precision Cardiovasular Medicine
American Heart Association
Dr. Hall graduated from the University of California Berkeley with a Ph.D. in physiology, and completed postdoctoral fellowships at Stanford and Harvard Schools of Medicine. She now serves as the Chief of The Institute for Precision Cardiovascular Medicine for the AHA. Dr. Hall is a past Chair of the Functional Genomics and Translational Biology Council of the AHA and an associate editor of JACC and was the founding editor in chief of the Journal of Cardiovascular Translational Research.
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Aaron Harding
Director at Large
Bridge the Gap – SYNGAP – Education and Research Foundation
Aaron is a clinical laboratory scientist at UCSD where he directly manages transfusion, genomic and transplantation medicine laboratory operations. He has 29 years of military service with experience in the military health system before he retired as Lieutenant Commander. He deployed as Director, Joint Blood Program, U.S. Central Command. His son Jaxon was diagnosed with SYNGAP1. Aaron joined Bridge the Gap – SYNGAP1 Education and Research Foundation where he serves as Director at Large.
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Molly Harper
Vice President, Commercial Development
Akcea Therapeutics
Molly Harper is an experienced commercial leader with nearly 20 years of experience in the life sciences industry, including expertise in pre-launch market development and commercial operations for biopharmaceuticals. Ms. Harper joined Akcea as Vice President, Commercial Development, in April 2015 from the Rare Disease division of Genzyme, where she was most recently Senior Director and Head of US Endocrinology.
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Jon Hockman
Principal
McKinley Advisors
Jon Hockman is a principal with McKinley Advisors, the largest and most trusted advisor to associations across North America. Based in Washington, DC and working with clients nationally and internationally, Jon's expertise is in facilitating critical conversations for organizations and their leaders.
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Dave Jacob
President
ThinkGenetic Foundation
Dave Jacob is President of the ThinkGenetic Foundation and Co-Founder and CEO of ThinkGenetic, a health information company based in Massachusetts. ThinkGenetic answers everyday questions about living with genetic conditions. ThinkGenetic was founded, in part, because Dave was born with a rare, connective tissue genetic condition, cutis laxa. Dave has been a successful businessman, entrepreneur, Navy pilot, and professional bowler over his varied career.
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Howard Jacob
Ph.D.
EVP Genomic Medicine, Chief Genomic Medicine Officer
HudsonAlpha Institute For Biotechnology
Howard Jacob Ph.D. is a Faculty Investigator and Executive Vice President for Genomic Medicine at Hudson Alpha. He uses molecular genetics to understand complex multifactorial disease. His passion for improving the lives of critically ill patients has been the catalyst for his determination to bring whole genome sequencing into a clinical setting. Dr. Jacob received his Ph.D. in pharmacology from the University of Iowa in 1989.
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Julia Jenkins
Executive Director
EveryLife Foundation for Rare Diseases
Julia is Executive Director and Secretary of the BOD at the EveryLife Foundation for Rare Disease. She coordinated advocacy for the inclusion of the FAST Act and initiated RDLA. Julia has worked as a Political Communications Consultant with the Lew Edwards Group and was Legislative Director and a lobbyist for Public Employees Union Local #1. She led efforts for the Democratic Party and worked for Nancy Pelosi. Julia received her Masters from SF State University and BS from St. Mary’s College of California.
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Monika Jones
J.D.
Co-founder and CEO
The Brain Recovery Project: Childhood Epilepsy Surgery Foundation
Monika Jones serves as CEO and Board Chair of The Brain Recovery Project which she co-founded with her husband to initiate and fund research. Her son, Henry, was born with a rare brain malformation causing hundreds of seizures per day despite anti-epileptic drugs and lead to him having a hemispherectomy to stop them. She is a graduate of UCLA and received her J.D. from USC. Monika is a member of the Council of Parent and Attorney Advocates and a board member of Watkins VITAL Care Program.
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Sharon King
President
Taylor's Tale
Sharon King is president and co-founder of Taylor’s Tale, the Batten disease focused charity started in honor of her daughter. Taylor’s Tale called for the establishment of the North Carolina Advisory Council on Rare Diseases to advise the Secretary of Health and Human Services. It was signed into law and later renamed “Taylor’s Law.” King is the patient organization representative to the council, organized North Carolina Rare Disease, and is Director of NC Rare Disease Innovations Institute.
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Walter Kowtoniuk
Ph.D.
Director, Strategy and Operations
Fulcrum Therapeutics
Co-founder of Fulcrum Therapeutics, Walt Kowtoniuk led company creation from conception to $55M Series A funding by Third Rock Ventures. Now at Fulcrum, he leads the company’s strategy, partnerships, and operations. Walt joined Third Rock in 2013 to focus on new company formation in the rare genetic disease space. While at Third Rock, he also supported the partner development team and contributed to the formation of multiple new companies focused on delivering transformative medicines to patients.
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Lori Leathers
Advisor
1847Financial
Lori Leathers supports the goals of families by ensuring all financial, legal, and government benefit resources effectively combine to work to their advantage. Prior to working in this industry, she experienced a life-changing event when she became the mother of a son diagnosed with fragile X syndrome. Lori made a career change to help families navigate through the special needs planning process, and to help them secure the future they envisioned for themselves and their loved ones.
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Daniel MacArthur
Ph.D.
Co-Director, Medical and Population Genetics and the Center for Mendelian Genomics
The Broad Institute of MIT and Harvard
Dr. MacArthur is an Assistant Professor at Harvard Medical School and MGH and Co-Director of Medical and Population Genetics and the Center for Mendelian Genomics at the Broad Institute of Harvard & MIT. He focuses on genomic approaches to uncover the impact of human genetic variation, and coordinates the Genome Aggregation Database. Dr. MacArthur received his BMedSc and Ph.D. from the University of Sydney, and completed postdoctoral training at the Welcome Trust Sanger Institute in Cambridge.
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Linda Marban
Ph.D.
President, CEO and Director
Capricor Therapeutics
Dr. Marbán is currently serving as our Chief Executive Officer. Co-founder of Capricor, Inc., our wholly-owned subsidiary, Dr. Marbán has been with Capricor, Inc. since 2005 and became its Chief Executive Officer in 2010. She combines her background in research with her business experience to lead Capricor and create a path to commercialization for its novel therapies.
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Elina Marchenko
Sibling Advocate
Dup15q Alliance
Elina Marchenko hails from the former Soviet Republic of Belarus, where her little sister Anna was born in 1989. After emigrating to the northern suburbs of Chicago, Elina assimilated to American life quickly while her family navigated Anna's Dup15q diagnosis. Professionally, Elina entered the video production field, working as a producer in reality television and now as the Senior Producer for a major liquor manufacturer.
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Steve Maricich
M.D., Ph.D.
Medical Director
BioMarin Pharmaceuticals, Inc
Steve Maricich joined BioMarin Pharmaceuticals, Inc. as a Medical Director in 2016. Trained as a pediatric neurologist and neuroscientist, he has served on the faculty at Baylor College of Medicine, Case Western Reserve University and the University of Pittsburgh. Steve is currently the clinical lead on the BMN 250 Sanfilippo Syndrome Type B enzyme replacement therapy program.
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Marie Mascia-Rand
Managing Director and Co-Founder
Phaware Global Association
Marie’s daughter Chloë was the first person to survive heart surgery using the only drug in clinical trials for pulmonary hypertension. Phaware™ was co-founded by 4 pulmonary hypertension community members who together bring unique for-profit expertise to the nonprofit world. They use technology to make a global footprint and address PH patients’ needs around the world. Their mission is to create global PH awareness through engagement and innovation to forge a new course to a cure.
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John Maslowski
President and Chief Executive Officer
Fibrocell Science
John Maslowski serves as Fibrocell’s President and Chief Executive Officer. He was previously SVP of Scientific Affairs, with oversight of research and development, clinical and regulatory affairs, and was VP of Operations prior to that. Before Fibrocell, he held various positions at Wyeth Pharmaceuticals, Inc. (now Pfizer, Inc.), Merck & Co. and Teva. Mr. Maslowski earned a B.S. in Biology from Ursinus College and an M.S. in Biology from Villanova University.
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Amy Miller
MSN
Executive Director
Child Neurology Foundation
Amy Brin Miller has served as CNF Executive Director since 2015. Prior to joining CNF, Miller led the development of and provision of care in various tertiary, ambulatory and community-based pediatric and perinatal palliative and hospice programs. She has served as a national consultant in building systems of care for CYSHCN, is a published author, and award-winning speaker. Miller is a Board-certified pediatric APN. Her greatest treasures in this life are her husband, Ryan, and their son, Ari.
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Tim Miller
Ph.D
President & CEO
Abeona Therapeutics Inc.
Timothy Miller, Ph.D., is President, CEO, and Director of Abeona Therapeutics Inc. He has 16 years of scientific research, product development, regulatory and clinical operations expertise, with a focus on moving novel biotherapeutics through pre-clinical phases into Phase 1 & 2 human clinical trials. He held many positions focusing on gene therapy and regenerative medicine. Dr. Miller earned a Ph.D. in Pharmacology with a focus on Gene therapy/CF, B.S. in Biology and M.S. in Molecular Biology.
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Linda Molnar
Ph.D.
Chair
Technology for Precision Health Summit
Dr. Linda Molnar has integrated her scientific and entrepreneurial backgrounds in leadership roles including; Founder and CEO at Simpatica, Managing Director at Burrill & Company, Executive in Residence at Momentum Biosciences, Program Officer at the National Cancer Institute, and research and business development roles at Caliper Life Sciences, NASA Ames Research Center, and Rohm & Haas Co. Linda holds a Ph.D. in Materials Science and Engineering from MIT and a BS in Chemistry from the University of Pittsburgh.
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Juliet Moritz
MPH
Executive Director, Patient Engagement and Strategic Development
Premier Research
Juliet has worked in clinical research for thirty years for both sponsors and CROs. She completed her undergraduate studies in biology and nursing at the University of Pennsylvania and her M.P.H. at Drexel University. Juliet is currently pursuing her doctorate in bioethics at Albany Medical College and is proud to have created the role of Executive Director of Patient Engagement at Premier Research as part of Premier's commitment to rare disease research.
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Ellen Morgan
CEO
Agility Clinical
Ellen Morgan is one of the founders and driving forces behind Agility Clinical. Ellen was founder and CEO of Synteract and Chairman. She built Synteract to become a full-service, international contract research organization. Ellen is also the founder of PHACT and has earned numerous awards including “Most Admired CEO” and “100 Most Inspiring People in the Pharmaceutical Industry”. Ellen has a BS in Chemistry, and an MS in Management & Industrial Engineering from Rensselaer Polytechnic Institute.
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Shazeen Mufti
Accounting Consultant
Fohrman & Fohrman, Inc.
Shazeen is dedicated to strengthening nonprofit organizations and leadership with a rich blend of accounting, development and operations experience gained from over twenty years of experience in working with local, national and international nonprofit organizations. Shazeen has served as a Chief Operations Officer for an international educational organization, Finance Director for a local community center, and Program Director for a national race relations organization.
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Linda Newberry - Ferguson
Senior Vice President, Clinical Navigation
Dohmen Life Science Services
Linda Newberry-Ferguson is SVP, Clinical Navigation at Dohmen Life Science Services (DLSS). With decades of nursing experience focused on complex patient populations, Linda leads rare disease clinical care delivered through unique orphan drug wrap around service models. With experience in hospital and specialty care, Linda champions the effort to better understand the patient journey to drive therapy adherence and improve health outcomes.
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Tom Novak
VP, Life Sciences Business Development
Cellular Dynamics International
Tom Novak is VP, Life Sciences Business Development, at Cellular Dynamics International (CDI) – A FUJIFILM Company, the world’s leading supplier of stem cell-derived, terminally differentiated cells. In addition, he is the Principle Investigator on CDI’s $16M grant from the California Institute for Regenerative Medicine to reprogram samples from 3000 patients with a variety of multigenic disorders. Prior to joining CDI, Dr. Novak was Senior VP of Research and Development at Fate Therapeutics.
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Piper Paul
J.D.
Attorney
Law Office of Piper A. Paul, LLC
Attorney Paul is a partner in a boutique law firm specializing in representing students with disabilities. Her focus is placed on working with school districts to ensure federal and state laws are followed so that students can appropriately access their education. Working with families to educate and advise them of their legal rights, to give them a voice, and to help empower them for a lifetime of effective advocacy is Attorney Paul's goal. Outside of her legal carer, Piper serves on the Amicus Committee for the Council of Parent Attorneys and Advocates (COPAA) as well as the Board of Trustees for the Narcolepsy Network and Board of Directors for the Connecting Families UCD Foundation.
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Ethan Perlstein
Ph.D.
Founder & CEO
Perlara
Ethan earned a Ph.D. in molecular and cell biology in 2006, and is an author on 19 peer-reviewed scholarly publications in genetics and pharmacology. In 2014, he founded Perlara PBC which was the first personalized drug discovery platform company partnering with families around the globe to cure diseases previously thought too rare to research.
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Nerissa Ramsey
Advocate
Hope for HIVEP2
Nerissa Ramsey began a grassroots patient support group after her son was diagnosed with an ultra-rare neurogenetic disorder resulting from a mutation in the HIVEP2 gene. Her son, Curren, was 4th in the world diagnosed with HIVEP2 disorder. Through Nerissa’s blog, Hope for HIVEP2, and social media, she has connected with a growing group of families. As a patient advocate, she is dedicated to increasing HIVEP2 awareness and connecting with others in the rare disease world.
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Rob Ring
Ph.D.
CEO
Vencerx
Dr. Robert Ring has 17 years’ experience in executive, strategic and technical leadership roles in pharmaceutical, non-profit and venture philanthropy sectors. Ring most recently served as the Chief Science Officer of Autism Speaks. Under his leadership, AS launched the foundation's innovative venture arm DELSIA. Ring served in Pfizer's Neuroscence Unit and the CNS drug discovery and development team at Wyeth Pharmaceuticals. Ring earned his Ph.D. from the City of Hope National Medical Center.
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Steve Roberds
Ph.D.
Chief Scientific Officer
Tuberous Sclerosis Alliance
Steve Roberds is Chief Scientific Officer at the TS Alliance, where he leads the development and execution of its research strategy. Since he left Pharma to take this position in 2011, the TS Alliance has created a TSC Biosample Repository of blood and tissue samples from individuals with tuberous sclerosis complex, built a TSC Preclinical Consortium, and helped establish a TSC Clinical Research Consortium. Steve serves on NIH’s National Advisory Neurological Disorders and Stroke Council.
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Steven Rodems
Ph.D.
Senior Director, Discovery Biology
Retrophin
Steve is the Sr. Director of Discovery Biology at Retrophin, a rare disease-focused drug development company in San Diego. He is responsible for setting discovery strategies and identifying new opportunities to add to Retrophin’s pipeline. Steve has over 19 years of experience in drug discovery including 15 years at Vertex Pharmaceuticals in San Diego. He received a Ph.D. in Biochemistry from the University of Wisconsin-Madison, and a B.A. in Chemistry/Biochemistry from UC San Diego.
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Morrie Ruffin
Managing Director
Alliance for Regenerative Medicine
Mr. Ruffin has 20 years of experience in the biotech and healthcare industries. In addition to forming ARM and serving as its Managing Director, he is also the Managing Partner at Adjuvant Partners. He was CEO of LifeTech Innovations. Ruffin also served as EVP of Capital Formation and Business Development at the BIO. Ruffin was responsible for leading the industry’s capital formation advocacy efforts with a particular focus on economic incentives.
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Tomasz Sablinski
M.D., Ph.D.
CEO
Transparency Life Sciences
Dr. Tomasz Sablinski, M.D., Ph.D. is Co-founder and CEO of Transparency Life Sciences, a drug development services company leading the transformation of clinical research enterprise. He also currently serves as a Managing Director at Auven Therapeutics, a biotech focused private equity fund. He is passionate about fundamentally changing the way clinical research is conducted.
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Lisa Schill
Vice President
RASopathies Network
Lisa Schill is the Event Development Consultant for the EveryLife Foundation for Rare Diseases. She is a parent advocate that specializes in connecting caregivers, researchers, support organizations, and families to help support patients in the pursuit of advancing treatment options and patient outcomes.
Lisa voluntarily serves as the Vice President of the RASopathies Network USA. She was a Principal Investigator for the 2015 and 2017 International Meetings on the Genetic Syndromes on the RAS/MAPk Pathway. Lisa graduated Magna Cum Laude from the University of North Carolina Greensboro with a dual major in Biology and Exercise and Sport Science where she was president of the Tri Beta National Biological Honor Society. When Lisa isn’t busy roaring for rare, you can find her spending time with her husband and three sons, or taking on new outdoorsy challenges.
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Lisa Schoyer
President
RASopathies Network
Lisa Schoyer is Quin Johnson’s mom, who had Costello syndrome (HRAS, G12S). She is Founder and President of the RASopathies Network, a trustee of ICSSG, and Secretary and Past President for ACSFN. Lisa has worked with families, clinicians and researchers to convene international scientific meetings on the RASopathies. 2017 marked the 5th International RASopathies Symposium she collaborated on convening, the second as Principal Investigator in applying for an NIH R13 Scientific Meeting grant.
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Alvin Shih
M.D., MBA
CEO
Enzyvant
Alvin is a physician, executive and drug developer who is passionate about bringing together people, ideas and resources to help patients and families affected by rare diseases. He currently serves as CEO of Enzyvant, a development-stage biotechnology company focused on advancing transformative therapies for patients with rare diseases. Prior to Enzyvant, Alvin was the head of research and development at Retrophin, where he led the drug development for renal, metabolic and neurological diseases.
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Robin Short
RN
Supportive Nurse Coordinator
Rady's Childrenb's Hospital San Diego
Robin earned her Bachelor of Science degree from Point Loma Nazarene University in San Diego and is currently working on earning her Master’s degree in Leadership of Healthcare Organizations through UCSD. Robin’s palliative care experience began in 2003, and she quickly realized her love and passion in healthcare. She worked at San Diego Hospice as the pediatric admission nurse before joining Rady's Supportive Care Program.
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Randolph Soltys
Ph.D.
Vice President, Drug Safety & Pharmacometrics
Regeneron Pharmaceuticals
Dr. Soltys is currently Vice President of Drug Safety and Pharmacometrics at Regeneron Pharmaceuticals in Tarrytown, NY. He received his academic training in Toxicology and Pharmacology at Rutgers University and the UMDNJ - Robert Wood Johnson Medical School. He is also board-certified and a member of the American College of Toxicology. Dr. Soltys has worked in the biopharmaceutical field for more than 35 years and has made substantive contributions to well over 100 IND submissions.
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Susan Stein
MPH
President and CEO
Connexion Healthcare
Susan Stein, MPH, is the CEO and President of Connexion Healthcare, which she founded. Connexion Healthcare serves the world’s leading pharmaceutical and biotech companies through its two Centers of Excellence—Oncology and Rare Disease. Susan has built Connexion Healthcare into one of Philadelphia Business Journal’s top 25 women-owned businesses. Susan completed a Master’s degree in Public Health at Drexel University in Philadelphia, PA. She serves on the Dean’s Advisory Council at Drexel.
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Genie Stevenson
Director of Sales and Partnerships
BookMyGroup
Genie Stevenson works on behalf of organizations to provide conference site selection as well as budget and contract negotiation. She has over 35 years of hotel, group and contract experience working successfully with organizations that have special needs, space requirements, unique menus and moderate budgets. It is her goal for every conference to be financially successful and make lasting memories for every family.
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Andra Stratton
President and Co-Founder
Lipodystrophy United
Andra Stratton is a patient with familial partial lipodystrophy and an advocate for the global lipodystrophy community. She is Co-Founder and President of Lipodystrophy United. She has led the efforts to increase awareness and support among patients for all types of lipodystrophy. Andra was the recipient of the PM360 ELITE patient advocate award. She received her MA in Industrial Organizational Psychology and is a single mother of two daughters.
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Scott Sutherland
Director, KDUX, Data Sciences Platform
Broad Institute of MIT & Harvard
Scott Sutherland is the Director of the Knowledge, Design, and User Experience (KDUX) department in the Data Sciences Platform of the Broad Institute of MIT and Harvard. Through the Broad Institute’s software platforms, the Data Donation Platform, and the Genome Analysis Workbench, they are working to engage both patients and scientists. Sutherland’s work at the Broad Institute builds 15 years of management experience in medical research centers, biotechnology, and clinical care settings.
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Ryan Taft
Ph.D.
Senior Director, Scientific Research
Illumina, Inc.
Ryan J. Taft, PhD, is Senior Director of Scientific Research at Illumina, with a focus on the development and deployment of diagnostic whole genome sequencing for patients with rare and undiagnosed genetic disease. He leads a team within Clinical Genomics Research whose activities include rapid whole genome clinical testing, multiple clinical trials and software and
bioinformatic prototyping and development.
Previously, Dr. Taft was a Group Leader & Senior Research Fellow at the University of Queensland, and he is Adjunct Associate Professor at the George Washington University School of Medicine and Health Sciences. He has published more than 50 peer-reviewed articles in a variety of well-regarded journals, and has led or contributed to teams responsible for the
discovery of seven genetic conditions.
Dr. Taft holds various positions within industry organizations. He is a founding member of the Global Leukodystrophy Initiative (GLIA); scientific advisor to the Mission Massimo Foundation; and, co-chair of the Medical and Scientific Advisory Board of Global Genes.
He obtained his Bachelor of Science in Biochemistry and Molecular Biology from the University of California, Davis on a Regent’s Scholarship, and his PhD in Genomics and Computational Biology, which received a Deans’ Commendation for Academic Excellence, from the University of Queensland on a US National Science Graduate Foundation Research Fellowship.
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Kent Thoelke
Executive Vice President, Therapeutic Expertise
PRA Health Sciences
With over 25 years in the drug development industry, Mr. Thoelke has dedicated his career to developing new therapies to help make patient lives better. Mr. Thoelke is the Executive Vice President of Scientific and Medical Affairs, Safety and Commercialization at PRA Health Sciences. A particular area of interest for Kent has been focusing on rare and orphan diseases. At PRA, Mr. Thoelke oversees all therapeutic areas inclusive of PRA's Rare and Orphan Disease Center of Excellence.
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Jonathan Thomas
Ph.D., J.D.
Chairman
California Institute for Regenerative Medicine
Jonathan Thomas (“JT”) has been Chair of the governing Board since June 2011. JT has a long-standing commitment to patient advocacy. He spent more than 15 years on the Board of the Crippled Children’s Society of Southern California and served as Chair for four years. The organization, now called AbilityFirst, assists children with spinal cord injuries and mental disabilities that could be targets of stem cell therapies.
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Brad Thompson
Lead Parent Support Specialist
Childrens Neurology Foundation
Brad Thompson is a Licensed Professional Counselor Supervisor, specializing in families of children with special healthcare needs and the professionals who serve them. He is the Lead Parent Support Specialist for the CNF’s Family Support & Empowerment Program. He has served on national advisory committees and spoken at numerous conferences related to family centered care and the medical home. His family includes wife Karen, son Justin and his wife Monica, daughter Hali, and granddaughter Ella.
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Luke Thompson
Film Maker
We Carry Kevan
Luke Thompson is a cinematographer who specializes in documentary and brand marketing content. His clients include Google, Verizon, and Walmart, and his work has been featured in National Geographic, Traveler, and People. Luke visually documented the We Carry Kevan trip through Europe and is responsible for the subsequent film.
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Symme Trachtenberg
MSW
Director of Community Education
Children's Hospital of Philadelphia
Symme Trachtenberg, MSW has focused her career on the needs of children, youth and young adults with chronic illness and disabilities and their families. She directs the Community Education Department and the LEND Community Outreach Program at Children’s Hospital of Philadelphia. She is the social worker for the Trisomy 21 Program and is a Clinical Associate in Pediatrics, U of Pa School of Medicine. She is a member of the Child Neurology Foundation Transitions Project Advisory Committee.
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Tom Troyer
We Carry Kevan
Tom Troyer earned a teaching degree from UNC Greensboro and recently completed his tenure of teaching middle school social studies. He is now delving into full-time work as a singer-songwriter and recording producer, where he has already found great success. Tom was instrumental in designing the backpack for We Carry Kevan and instigating most of the trouble the team got into on their trip through Europe.
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Kim Tuminello
Director of Advocacy
Association for Creatine Deficiencies
Kim Tuminello is a graduate of San Diego State University with a degree in Communications. She has over 25 years of sales, recruiting and management experience, and works in the medical sales industry. Both of Kim’s children were born with the rare genetic disorder of guanidinoacetate methyltransferase (GAMT), which is one of three cerebral creatine deficiency syndromes (CCDS). She is co-founder of the Association for Creatine Deficiencies (ACD) and currently serves as the Director of Advocacy, advocating for Newborn Screening of this rare, but easily treatable disorder. Kim’s passion for early diagnosis and treatment in children has led her to working on passing legislation at the state and federal levels, and advocating for GAMT to be included on newborn screening around the world.
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Nahid Turan
Ph.D.
Director, Laboratory Operations and Principal Investigator, NIGMS Repository
Coriell Institute for Medical Research
Nahid Turan, Ph.D., is director of Laboratory Operations at Coriell Institute for Medical Research, overseeing all laboratory operations and the biobanking logistics, quality control and assurance, and customer service departments. Nahid also serves as the Principal Investigator of the NIGMS Human Genetic Cell Repository, a world renowned collection containing over 17,000 samples representing a variety of disease states and chromosomal abnormalities, and the CHD GENES Biorepository at Coriell.
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James Valentine
J.D., M.H.S.
Associate
Hyman, Phelps & McNamara, P.C.
James Valentine, J.D., M.H.S., is an associate at Hyman, Phelps & McNamara, PC where he assists medical product industry clients in a wide range of regulatory matters, including new drug development and approval issues. Before joining the firm in 2014, James worked in FDA’s Office of Health and Constituent Affairs where he facilitated patient input in benefit-risk decision-making, including launching the Patient-Focused Drug Development program and worked at CDER’s Office of Regulatory Policy.
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Vanessa Vogel-Farley
Executive Director
Dup15q Alliance
Vanessa Vogel-Farley is the Executive Director of the Dup15q Alliance, the patient advocacy group for those affected by dup15q syndrome. She uses her experience in child development research and non-profit work to raise awareness and promote research into dup15q syndrome. The Dup 15q Alliance seeks to find targeted treatments so that affected individuals can live full and productive lives.
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Lalé Welsh
Executive Director
Neuromuscular Disease Foundation (NDF)
Lalé Welsh is the Executive Director of The Neuromuscular Disease Foundation (NDF). NDF’s mission is to expedite treatments and cures for GNE Myopathy, an adult-onset distal myopathy. NDF has three programs: clinical research, education and public awareness, as well as advocacy and hosts an annual symposium. NDF certifies patients as "NDF Patient Advocates" and supports “Patient Information Days”. Lalé runs a consulting firm in California and is currently writing a book.
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Yael Weiss
M.D., Ph.D.
VP, Business Development
Ultragenyx Pharmaceutical
Yael Weiss is Vice President Business Development for Ultragenyx Pharmaceutical. Yael received her M.D. degree from Hadassah Medical School in Jerusalem, and her Ph.D. in molecular genetics from the Weizmann Institute of Science in Rehovot, Israel. Throughout her career Yael held various clinical and BD positions at Genzyme and Merck.
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Simon Wheatcroft
Speaker
&Adapt
Born with a genetic eye disorder, (Retinitis Pigmentosa), Simon Wheatcroft became blind at 17 but refused to let that hold him back. Whether competing in ultra- marathons, climbing mountains or going about his daily life, he combines the use oftechnology and his fundamental belief in his own abilities to overcome. Using his experience working with IBM, MIT and Google, Simon has created new technology and put it to the test during his solo 4 Deserts Marathon run in 2016.
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Wendy White
Board Chair
Global Genes
Wendy White works in rare disease at the intersection of business, advocacy and technology. She founded and transitioned Siren Interactive Corporation to Dohmen Life Science. She spent 5 years on the board of NORD, is the chair emeritus for the Healthcare Business Woman’s Association and Board Chairman for Global Genes. She is mother to a child with a rare disorder and publisher and co-author of Uncommon Challenges; Shared Journeys—Stories of Love, Hope, and Community by Rare Disease Caregivers.
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Andrew Zimmer
Associate Director, Software Engineering in the Data Science Platform
Broad Institute of MIT
Eighteen years ago, Andrew Zimmer was an engineer working on the landmark Human Genome Project. Following the Whitehead Institute, Andrew joined Dr. Lander's nascent Broad Institute of MIT and Harvard, where he has since participated in a wide variety of software engineering projects. He is now an Associate Director of Engineering in the Broad’s Data Sciences Platform and the technical architect of the institute's direct-to-patient Data Donation Platform.
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Mary Zupanc
M.D.
Division Chief, Pediatric Neurology
Children’s Hospital of Orange County
Mary L. Zupanc, M.D. is professor of Pediatrics and Neurology at the University of California, Irvine and Division Chief of Child Neurology at both UCI and Children’s Hospital of Orange County. She is board certified in Pediatrics, Neurology, Clinical Neurophysiology, and Epilepsy. She is a fellow of the American Academy of Pediatrics and the American Academy of Neurology. Dr. Zupanc has authored articles on neonatal seizures, infantile spasms, and pediatric epilepsy surgery.
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