In November of 2012, Monica's twin son, Beckett, was the first to be diagnosed at Texas Children's Genetics Clinic with the gene mutation SYNGAP1 (6p21.3). When Beckett was 4 months old, she noticed he was not meeting the same milestones as his twin sister. Monica then began a journey to find answers to help her son. She started to blog about his progress and this led to building a community of parents and caregivers that are now a strong support group. She is the Founder and President/CEO of Bridge the Gap – SYNGAP Education and Research Foundation. It is her passion to help support these families by raising awareness and creating a strong foundation that will accelerate a path to better therapies.
She retired in 2016 after 23 years in education teaching secondary science. Her new focus is on building the programs and mission of Bridge the Gap – SYNGAP Education and Research Foundation. She is the Primary Investigator on the SYNGAP1 (MRD5) Registry and Natural History Study. She is a life member of the Worldwide Association of Female Professionals and a member of the first class of 2017 Illumina Ambassadors established in the United States. In addition to leading the foundation, she is an author, public speaker, consultant on rare disease business strategies and advocates for rare disease legislation at both the federal and state levels. Several of her authored scientific publications include Nature Neuroscience, The Journal of Neurodevelopmental Disorders, and The Journal of Pediatrics. She has authored a book about her son Beckett’s diagnostic journey called “Slow Moving Stream - My Special Boy”. She is a graduate from East Texas Baptist University with a Bachelor's of Science in Biology/Psychology (1991) and Secondary Certification in Education (1995). She will be attending Northwestern University Pritzker School of Law in the Fall of 2020 to earn her Masters in Science Law. She has five beautiful children, Haleigh (28), Taylor, USMC (25), Sawyer (23), and the twins Beckett & Pyper (12). She was a Global Genes 2015 & 2016 RARE Champion in Advocacy Award nominee for her work in the rare disease community and Wego Health Awards Nominee for years 2015, 2017, 2018, & 2019. 2020 Global Shakers Rare Disease Champion.
Dr. Akanksha Baharani is a scientist with a strong record of accomplishment and project completion in Neuroscience, Oncology, Diabetes, and Science Education. She has completed her doctoral degree from the University of Saskatchewan, Canada. Over the last 10+years, she has demonstrated expertise in Neurobiology, Bioinformatics, and Molecular Biology through 7 research publications, 50+ scientific presentations, and 7+ teaching appointments. Akanksha has been awarded $200,000 CAD in external research funding, $50,000+ CAD in academic scholarships and $10,000+ CAD in travel awards to present at scientific conferences. Her background in clinical and pre-clinical research has helped to carry out and fund independent and collaborative projects that promote human health. Akanksha’s greatest passion in life is to filter complex scientific concepts and technologies to disseminate among stakeholders in medicine as a Medical Affairs professional.
Bennett Barrow, CFP® is the co-founder and CEO of RareGuru, LLC. He is also the President of Barrow Asset Management, a Registered Investment Advisor and wealth management firm in Tampa, Florida. He graduated from the University of the South (Sewanee) in 2002 and moved to Madrid, Spain and then Santiago, Chile where he worked as a pension reform analyst for a public policy institute. He earned his CERTIFIED FINANCIAL PLANNER designation from the University of South Florida Financial Planner Program in 2010. He has served on the St. Joseph’s Hospitals Foundation Board of Directors since 2011 and currently serves as Treasurer. He also serves on the Board of Directors for High Risk Hope ( a Florida non-profit serving women experiencing high risk pregnancies and premature birth). In 2016, the Governor of Florida appointed Bennett to serve on the Board of Directors for the Tampa Hillsborough County Expressway Authority where he now serves as Vice-Chairman. Bennett is an avid runner and competes in marathon/ultra-marathon races during his spare time.
A curious, knowledgeable wife to someone living with two rare diseases – Ataxia and Mitochondrial Disease. Since 2005, her mission has been to share reputable Ataxia information in short, simple, digestible servings. She launched a video series called ‘Did You Know Ataxia Facts’ in 2014 that has reached thousands across 17 countries via YouTube, Twitter, and Facebook. She was also the first to author four PSA’s about Ataxia for the National Ataxia Foundation. Her professional experience includes Senior Learning and Development Specialist, Corporate Trainer, and currently, Learning Technology Specialist. As a member of the New England Ataxia Chapter, which encompasses four support groups, she has eleven years’ experience coordinating Ataxia fundraising events, and five years of participation in the Boston Abilities Expo. Most recently she joined the awareness efforts of the Ataxia Unit at Massachusetts General Hospital in Boston for Ataxia Education
Han Phan, M.D., is a pediatric neurologist and assistant
professor of neurology in the department of pediatrics at the Emory University
School of Medicine. Her research primarily focuses is on neuromuscular
disorders, particularly Duchenne muscular dystrophy (DMD) and spinal muscular
atrophy (SMA). She also studies sleep related neurological conditions.
Professor Fernando Ferrer, MBA, professor of business in master and college programs, is a proven business leader in life science with expertise in global and international strategies in diverse corporate and cultural environments, is member of patient advocacy organizations for rare diseases and cancer, and international trilingual speaker of diverse life science and business related topics. In his presentations, Professor Ferrer covers diverse aspects and solutions related to life sciences in Latin America from the perspectives of its stakeholders, like patients, authorities, and industry
Mr. Mohamed El-Amin is a core surgical trainee who is interested in preceding career in otolaryngology. He finished his core surgical training in the Manchester area as part of the North West Deanery. He is a graduate of the Faculty of Medicine, University of Khartoum and holding a Mch Degree from Edge Hill University 2018.
Jaime Andrés Jiménez is an Oral and Maxillofacial surgeon in Bogotá, Colombia. Since 90´s he wants help people with craniofacial syndromes and anomalies during his studies in high school. Now he works in private practice, private Hospital and also in nonprofit foundations making his dream true, but making the dreams of others become real. He made his dentistry studies at Universidad Nacional de Colombia in Bogotá. After graduating from the University, he specialized in Oral and Maxillofacial surgery at Universidad El Bosque in Bogotá. He has serves in many international events like as speaker. His main research areas are craniofacial malformations and syndromes. He is author of various publications. He truly believes that teamwork aimed at the best benefit of patients and their families is the best way to work.
He is member of International Association of Oral and Maxillofacial Surgery, Latinamerican Association of Oral and Maxillofacial Surgery, Latinamerican Association of Craneofacial malformations, Colombian Association of Oral and Maxillofacial Surgery, Colombian College of Dentistry, Colombian Association of Sleep Apnea Medicine. Member of board directors of the Colombian Association of Oral and Maxillofacial Surgery between 2009 - 2015.Nothing of this could happened without the example of his parents and the unconditional support of his wife and son.
A native of Bogotá - Colombia South America, Dr. Duque
graduated from Dental School at El
Bosque university in 1998 and following this, he completed a four year
residency in Oral and Maxillofacial Surgery at El Bosque University
Bogotá-Colombia 2003 .In 2004 and 2005 he was Fellow at the University of
Chile. The emphasis of this study was
the surgical treatment of cleft lip and palate and related craniofacial abnormalities . After his return to Colombia
in 2006, he has being involved in the care and treatment of children with
clefts and craniofacial malformations. In 2006 founded the Luz de Alegria
Foundation for cleft Children (non profit) . Training in Craniofacial Surgery
at Roosevelt Children´s Orthopedic Institute Bogotá 2006-2007. Treasurer
Colombian Association Oral and Maxillofacial Surgery 2006-2010 and
Vicepresident of Colombian College of Dentistry 2008- 2010. Member of the
Colombian Association Oral and
Maxillofacial Surgery Board of Trustees 2010-2012,. Since 2009 is part
of the Colombian Air Force Professionals Officers of
Reserve with the rank of Capitain. His clinical practice is focused on
cleft lip and palate repair, surgery for craniosynostosis and complex
craniofacial deformities, orthognathic surgery and treatment of facial
injuries. Dr. Duque has been published on these subjects and is a frequently
invited lecturer at nationals and Internationals scientific congresses.