Moderated by Laurie Bridges, featuring Rebecca Shaffer, PsyD, Nicole Tartaglia, MD, Barbara Haas-Givler, MEd, BCBA, Susan Howell, MS, CGC, MBA, and Jennifer Barber.
Question and answer session on the topic of our closed and active clinical trials.
Runtime: 1:00:46
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About the Speakers
Laurie Bridges
NFXF Houston Chapter Leader, NFXF Board Member
Laurie and her husband, Will, are the proud parents of Caroline (full mutation) and Clark. Laurie has worked as an occupational therapist since 1999 and works in the Humble Independent School District near Houston. Not long after her daughter was diagnosed with Fragile X syndrome, Will and Laurie began serving Fragile X families in the Houston area by forming an NFXF Community Support Group in 2011. She has attended five NFXF International Fragile X Conferences and was co-chair of the host committee for the 2016 conference in San Antonio.
Since the beginning of their Fragile X journey, the Bridges are thankful for the National Fragile X Foundation and how it supports families, promotes education and awareness, and puts a priority on research. “We keep moving forward and taking the next step. We are thankful for our Fragile X family because we are not alone!”
Rebecca Shaffer, PsyD
Director of Psychological Services at Cincinnati Fragile X Treatment and Research Center
Dr. Shaffer is the director of psychological services at the Cincinnati Fragile X Treatment and Research Center. She provides psychological assessment and behavioral treatment to a wide age of individuals with Fragile X and carriers. She also conducts research and provides assessments for research studies.
Nicole Tartaglia, MD
Professor of Pediatrics at the University of Colorado School of Medicine
Nicole Tartaglia completed her medical education at the University of Colorado School of Medicine, her residency in Pediatrics at Children’s Hospital Los Angeles, and her fellowship in Developmental Pediatrics at the UC-Davis MIND Institute. She is a professor of pediatrics at the University of Colorado School of Medicine. She has been director of the Denver Fragile X Clinic at Children’s Hospital Colorado since 2007, and proudly leads a team of dedicated clinical and research colleagues and mentees in Colorado. Dr. Tartaglia’s career is focused on clinical care and research in individuals with genetic causes of developmental disabilities, enjoys working closely with Fragile X families and the Fragile X research community nationally to help advance care and support for individuals with FXS and their families.
Barbara Haas-Givler MEd, BCBA
Director, Education and Behavioral Outreach at Geisinger Fragile X Clinic
Barbara Haas-Givler is a board-certified behavior analyst and the director of education and behavioral outreach at Geisinger’s Autism and Developmental Medicine Institute in Lewisburg, Pennsylvania. Ms. Haas-Givler has extensive experience in special education, serving in many different capacities throughout her career, including classroom teacher, administrator, educational consultant, behavior analyst, and research associate for clinical pharmaceutical trials. Ms. Haas-Givler frequently presents at local and national conferences and provides consultations and training on strategies to support students with Fragile X, Smith-Magenis, 22q11.2 deletion, and other syndromes that result in complex intellectual and behavioral symptoms.
Susan Howell, MS, CGC, MBA
Certified Genetic Counselor at Children’s Hospital Colorado
Susan Howell is an assistant professor at the University of Colorado School of Medicine and has worked as the genetic counselor for the Denver Fragile X Clinic at Children’s Hospital Colorado since 2008. During her tenure in Colorado, Susan has worked on a multitude of research projects including several industry-sponsored clinical trials of targeted treatments in Fragile X syndrome, the CDC-funded Fragile X Registry, FORWARD, several NIH-funded clinical trials of testosterone treatment in infants and adolescents with Klinefelter syndrome, and currently an NIH-funded natural history study of prenatally diagnosed babies with sex chromosome aneuploidies. She currently serves as the co-chair of the Colorado Genetic Counseling Educational Symposium and a board member for the national X&Y aneuploidy support group, AXYS.
Jennifer Barber
National Fragile X Foundation Project Coordinator
Jennifer Barber is a mother of three children, her two oldest have fragile X syndrome and were diagnosed in 2010. Following their diagnosis, growing their family came to an abrupt stop while they navigated fragile X syndrome and what this meant for their family moving forward. In 2013 Jennifer was a surrogate and was able to see the workings of the PGD/IVF process (preimplantation genetic diagnosis and in vitro fertilization), and in 2015 they decided to use PGD/IVF for themselves to grow their family.
Jennifer continues to be a strong advocate for her family and those on their journey with Fragile X. She has worked with the NFXF since 2014 in various roles, including chapter leader, regional leader, and conference project coordinator. Jennifer has worked as a registered nurse in an emergency department for the past 15 years.
Females and Fragile X
Full Mutation and Premutation
Females and Fragile X, including physical, cognitive, behavioral, and emotional issues associated with the mutation, and the differences when compared to males.