Supporting - Educating - Advocating
Agenda Overview
Speaker Agenda
Thursday July 25th
*All sessions in Windsong 7 unless otherwise noted
8:05 - 9:00 Keynote: Dr. Bruce Gelb
Title: A heart-to-heart chat: Cardiac and lymphatic involvement in Noonan syndrome and what are going to do about it.
Description: For this plenary talk, Dr. Bruce Gelb will discuss three topics: 1. Heart involvement in Noonan syndrome, including how it is assessed and how different types are cared for. 2. Lymphatic involvement in Noonan syndrome, including what this body system is and how it can be perturbed in Noonan syndrome. 3. The use of the cancer drug trametinib for the treatment of some cardiac and lymphatic issues in Noonan syndrome.
9:05 - 9:55 Keynote: Dr. Amy Roberts
Title: Noonan Syndrome: Does Knowing the Gene Matter?
Description: We will review the known genetic causes of Noonan syndrome and how knowing the specific genetic etiology may or may not impact care.
10:00 - 10:55 Keynote: Dr. Alicia Romano
Title: Endocrine Aspects of Noonan Syndrome: Focus on Growth
Description: Growth issues in Noonan syndrome are common & can be affected by weight gain and puberty. Other hormone issues affecting the thyroid, body composition, etc are less common. Growth hormone treatment, outcomes, safety, and updates will be discussed.
11:00 - 11:55 Keynote: Dr. Rebekah Hudock
Title: Preparing for the Transition to Adulthood
Description: This presentation will discuss important information related planning for adolescents' transition from high school into adulthood. We will also share person- centered strategies that can support families as they plan for their adolescent's increased independence while also incorporating their teen's strengths, interests, and personal goals.
12:20 - 12:45 Peer-to-Peer: Katie Thorstenson & Jenna Gay
Title: Fundraising for the Foundation
Description: Both Katie and Jenna both have held successful fundraisers for the Noonan Syndrome Foundation. They will both discuss why they wanted to help the NSF, ways they have accomplished this and why it is so important.
1:00 - 1:55 Keynote: Dr. Rene Pierpont *Grand Cypress DEF
Title: Mental health care for individuals with RASopathies: patient and caregiver perspectives
Description: This presentation will discuss research regarding the neurodevelopmental and mental health needs of individuals with CFC and Noonan syndrome. Dr. Pierpont will present emerging results of a recent qualitative study to gather and analyze perspectives of caregivers and young adults with RASopathies on their needs and treatment experiences, and will end the talk with practical tips for supporting wellness and mental health.
2:00 - 2:55 Keynote: Pilar Magoulas
Title: Understanding Your Genetic Test Results
Description: This workshop will review the basics of genetics and genetic terminology, discuss the genetic testing options available for Noonan syndrome, and provide information regarding the types of results families may receive. We will also review examples of test results and help families interpret their test results.
3:00 - 3:55 Keynote: Dr. Nicole Weaver *Grand Cypress DEF
Title: Identification and Management of Sleep Disorders
Description: This session will provide an overview of normal and abnormal sleep, how we evaluate a person’s sleep, how sleeping problems can be managed, and what we know about sleeping problems reported by individuals with RASopathies.
4:00 - 4:55 Keynote: Lisa Otto
Title: OT play based-educational session for parents of children ages 3 months -3 years.
Description: Discussion/question and answer forum with focus on movement/developmental strategies, sensory, and feeding.
Session open to children 3 months - 3 years. Please bring a play blanket and toys, as we will be sitting on the floor to play.
Friday July 26th
*All sessions in Windsong 7
8:05 - 9:00 Keynote: Dr. Khalil El-Chammas (Virtual Speaker)
Title: GI considerations in Noonan Syndrome
Description: Overview of GI disorders associated with NS Pathophysiology Diagnosis Management
9:05 - 9:55 Keynote: Dr. Yaffa Serur Schwarzman
Title: The Behavioral and Brain Phenotype of Children with Noonan Syndrome
Description: We will talk about the behavioral phenotype of children with Noonan Syndrome. In addition, we will discuss the latest imaging brain data from children with Noonan syndrome collected in our lab.
10:00 - 10:55 Keynote: Dr. Nicole Weaver
Title: Multidisciplinary Care for Individuals with RASopathies
Description: Care for patients with multisystemic medical needs is most effective when there is efficient communication and coordination between the clinicians providing care, as well as with the patient and family receiving care. A multidisciplinary clinic and/or dedicated multidisciplinary team (virtual clinic) facilitates this approach. In this presentation, I will review the focus of medical/developmental care for patients with RASopathies, stratified by patient age, and discuss the benefits of a multidisciplinary, comprehensive clinical approach.
11:00 - 11:55 Keynote: Dr. Benjamin Briggs (Virtual Speaker)
Title: Disordered Bleeding in Noonan Syndrome
Description: Discussion of what is currently known about the diagnosis and management of bleeding disorders in patients with Noonan syndrome.
1:00 - 1:55 Keynote: Dr. David Stevenson
Title: Musculoskeletal Findings in Noonan Syndrome
Description: This presentation will discuss the impact of the RAS/MAPK pathway on musculoskeletal development. We will review physical fitness, strength, fractures, and bone and muscle abnormalities in Noonan syndrome and the RASopathies.
2:00 - 2:55 Keynote: Dr. Eric Browning
Title: Oral and Dental Manifestations of Noonan Syndrome
Description: There are various oral and dental manifestations that occur in those with Noonan syndrome. We will address the various issues that arise and the treatments involved. An emphasis on early treatment interventions will be discussed.
3:00 - 3:25 Peer-to-Peer: Grace Mayr
Title: Navigating Life with Noonan Syndrome
Description: Navigating my life as a person with Noonan syndrome. Discussing the different stages of my life and how Noonan syndrome impacted them. The medical complications of Noonan syndrome and how they impacted my life throughout those stages. The educational impact of Noonan syndrome and how those impacted different stages and how I learned to advocate from myself through school and beyond.
3:30 - 3:55 Keynote: RASopathies Research
RAS Network: Nosology, Research and Future Plans
Meet our Speakers
Dr. Bruce Gelb
Dr. Gelb is the Dean for Child Health Research as well as Director and Gogel Family Professor of the Mindich Child Health and Development Institute at the Icahn School of Medicine at Mount Sinai. He is Professor of Pediatrics and of Genetics and Genomic Sciences. Dr. Gelb completed a pediatric residency and pediatric cardiology fellowship at Babies Hospital/Columbia-Presbyterian Medical Center and Texas Children's Hospital/Baylor College of Medicine, respectively. He oversees an extensive program in gene discovery for congenital heart disease as well as in pediatric precision medicine. Dr. Gelb is the Director of the Mindich Child Health and Development Institute, which he helped found in 2009, and co-directs the Cardiovascular Genetics Program. He is the President of the American Society of Human Genetics.
Dr. Amy Roberts
Dr. Roberts is trained in both clinical genetics and pediatrics. Her research focuses on genotype phenotype correlations in Noonan syndrome and other Rasopathies and Noonan syndrome gene discovery. She also is interested in genetic causes of congenital heart disease. Dr. Roberts is the Director of the Boston Children’s Hospital Cardiac Gene Project (BCH CGP), a registry and DNA repository for families affected by congenital heart disease. She is the director of clinical cardiovascular genetic research for the department. Her principal clinical activities involve a cardiovascular genetics clinic and inpatient consultation for children with a potential genetic cause of their congenital heart disease. Her interests include Noonan syndrome, CFC syndrome, Williams syndrome, hypoplastic left heart syndrome, 22q11 deletion syndrome and cardiomyopathy.
Dr. Alicia Romano
Dr. Alicia Romano is a Pediatric Endocrinologist who has a long-standing interest in and experience with growth in children with Noonan syndrome. She advocates for their growth optimization and focuses on the individualization of their care. Dr. Romano has published adult height outcomes in one of the largest groups of individuals with Noonan syndrome treated with growth hormone.
Dr. Romano is currently Associate Professor of Pediatrics at New York Medical College where she has served as Director of Pediatric Endocrine Research and has clinical, teaching, research, and administrative responsibilities as a Pediatric Endocrinologist with Boston Children’s Health Physicians in Valhalla, New York. Her clinical care of patients with endocrine conditions (growth, diabetes, thyroid, adrenal, pituitary problems) includes both inpatient management at the Maria Fareri Children’s Hospital and in the outpatient setting. In addition to children with Noonan Syndrome, Dr. Romano also manages growth and hormone problems in children with other genetic conditions.
Dr. Romano, a lifelong New York resident, is a graduate of The State University of New York at Stony Brook School of Medicine. She completed her Pediatric Internship, Residency, and Pediatric Endocrine Fellowship at Schneider Children’s Hospital of the Long Island Jewish Medical Center in New York.
Dr. Rebekah Hudock
Dr. Rebekah Hudock is a Pediatric Neuropsychologist and Associate Professor of Pediatrics at the University of Minnesota. She completed her PhD in School Psychology from Indiana University, followed by a predoctoral internship at the University of Tennessee Health Science Center, a postdoctoral fellowship in clinical psychology at Cincinnati Children's Hospital Medical Center, and a two-year postdoctoral fellowship in pediatric neuropsychology at the University of Minnesota Medical Center.
Dr. Hudock specializes in clinical care and research related to autism, RASopathies, and related neurodevelopmental conditions across the lifespan. She has particular expertise in supporting social and emotional functioning and independence for transition-age individuals (ages 14-25). Her research focuses on developing and adapting community-based programming to meet the unique needs of adolescents who have neurodevelopmental conditions and their caregivers. Her current work focuses on mentoring, educational and healthcare transition, and social communication skills.
Dr. Rene Pierpont
Dr. Rene Pierpont is a Pediatric Neuropsychologist and Assistant Professor of Pediatrics. She is licensed as a psychologist through the Minnesota Board of Psychology. She works with individuals during infancy through young adulthood. In her clinical work, Dr. Pierpont conducts neuropsychological evaluations and consultations with children with complex medical and neurodevelopmental conditions. Dr. Pierpont's research focuses on neurocognitive and behavioral development in children with genetic syndromes. Dr. Pierpont is presently a K23 scholar funded by the National Institute for Neurological Disorders and Stroke.
Dr. Pierpont is a member of the Center for Neurobehavioral Development at the University of Minnesota, the International Neuropsychological Society, and the American Psychological Association/Division 40. She also participates on the Medical Advisory Board for the Noonan Syndrome Foundation. In addition to her research and clinical work, Dr. Pierpont is passionate about partnering with patient communities to develop better resources, guidelines, and avenues of care for children with genetic conditions.
Pilar Magoulas, M.S., C.G.C.
Pilar Magoulas is a certified genetic counselor and Associate Professor in the Department of Molecular and Human Genetics at Texas Children’s Hospital and Baylor College of Medicine. She received a Masters of Science degree in Genetic Counseling from Northwestern University in 2003. She currently works as a pediatric genetic counselor at Texas Children’s Hospital where she serves as the Manager of the Genetics clinic and Chief of the Division of Genetic Counseling. Pilar serves as Vice President for CFC International, support group for individuals with Cardio-facio-cutaneous syndrome, on the Scientific Advisory Council for the National Foundation for Ectodermal Dysplasias, and on Scientific Advisory Board for RASopathies Network USA. She is passionate about advocacy work and helping families throughout the genetic diagnostic process.
Dr. Nicole Weaver
Dr. Weaver is an Associate Professor of clinical Pediatrics in the Division of Human Genetics at Cincinnati Children’s Hospital Medical Center. Dr. Weaver co-directs the CCHMC RASopathies Program as well as the CCHMC Cardiovascular Genetics clinic. Her clinical practice exclusively focuses on individuals with RASopathies (Noonan, Costello, and Cardiofaciocutaneous syndromes), Marfan and related syndromes, and congenital heart disease. The RASopathies Program encompasses a multidisciplinary clinic which includes specialists in genetics, neurology, endocrinology, cardiology, and gastroenterology who provide comprehensive, coordinated care for individuals of all ages with suspected or confirmed RASopathy diagnoses.
In addition to being a clinical geneticist, Dr. Weaver is also the Principal Investigator of a basic science lab. The Weaver Lab studies genetic etiologies and pathophysiology of human syndromes associated with cardiovascular and craniofacial anomalies. Dr. Weaver completed medical school at the University of Alabama-Birmingham followed by a combined pediatrics and genetics residency and clinical biochemical genetics fellowship at Cincinnati Children’s Hospital.
Lisa Otto
Lisa Otto, is a Pediatric Occupational Therapist with 25+ years of experience. She is an Advanced Clinical Specialist at Texas Children’s Hospital and is also working as a School-based Therapist at Harris County Department of Education. She has certifications in neurodevelopmental treatment (NDT), Lactation Consultant (CLC), and Neonatal Touch Massage (NTMC). She has experience in both inpatient/outpatient settings, NICU and serves as a mentor for clinicians. Lisa is married and has 3 children. She enjoys advocating for NS, as her youngest has Noonan Syndrome. In addition, she enjoys traveling, reading, photography and educating parent/providers. She lives in Texas, and spends most summers in Northern Michigan.
Dr. Khalil El-Chammas
Dr. Khalil El-Chammas is a pediatric gastroenterologist and the Associate Director of the Neurogastroenterology and Motility Center at Cincinnati Children’s Hospital Medical Center. He is devoted to improving the lives of children with a wide variety of motility disorders as well as disorders of brain-gut interaction. Khalil is also an Associate Professor of Pediatrics at the University of Cincinnati and the Medical Director of the Multidisciplinary Motility Clinic at Cincinnati Children’s where he collaborates closely with Colorectal Surgery and other disciplines to provide care for children with motility disorders.
Khalil is part of the RASopathy multidisciplinary clinic and takes care of patients with a range of gastrointestinal issues. He is involved in clinical research, and he embraces the importance of training the next generation of pediatric neurogastroenterologists by working closely with advanced fellows in his role as the Director of Advanced Fellowship in Neurogastroenterology and Motility.
Dr. Yaffa Serur Schwarzman
Dr. Schwarzman is a child and adolescent psychiatrist-scientist bridging genetics, behavior, and neuroimaging to decipher the mechanisms behind neuropsychiatric disorders. Dr. Schwarzman is in her second year as a postdoctoral fellow at The Brain, Image, Development, Genetics (BRIDGE) laboratory at Stanford University, awarded by the Harvey L. and Maud C. Sorensen Foundation.
Working at Prof. Tamar Green’s lab has allowed her to gain significant expertise in the collection and analysis of genomic, imaging, behavioral, and cognitive data on children with genetic syndromes such as Noonan Syndrome (NS) and Neurofibromatosis Type 1 (NF1), as well as in working with large data sets like ABCD or ENIGMA.
Dr. Benjamin Briggs
I grew up in Maine where I went to the University of Maine and studied Chemistry. I then furthered my education at the University of Vermont Medical School. It was during my clinical rotation in Pediatrics during Medical School that I first became interested in bleeding disorders in Noonan syndrome. A mother of a patient with Noonan syndrome approached me before her daughter had surgery. She told me she was concerned about the associated bleeding risks for patients with Noonan syndrome and that this could be important for her daughter. She handed me some article abstracts to read and based on this information we diagnosed her daughter with Factor XI deficiency. Since then I have been interested in better understanding why patients with Noonan syndrome have bleeding issues. I completed my Residency in Pediatrics at the Naval Medical Center in San Diego and then completed my Fellowship in Hematology and Oncology at Rady Children’s Hospital/University of California-San Diego.
Dr. David Stevenson
Dr. David Stevenson is a physician board certified in both pediatrics and medical genetics. He completed his pediatric residency at the University of New Mexico and completed his medical genetics residency at the University of Utah.
Dr. Stevenson is a Professor in the Division of Medical Genetics at Stanford University, where he is the service chief for the division. He is also the program director for the Combined Pediatric-Medical Genetics Residency Program and the Medical Genetics Residency Program at Stanford. In addition, as co-director of the Genetic Testing Optimization Service, he focuses on researching best practices for genetic testing utilization.
Dr. Stevenson sees all types of individuals with various genetic disorders in his clinical practice. However, he has particular interests in disorders of the Ras/MAPK pathway which includes Noonan syndrome, neurofibromatosis type 1, CFC syndrome, and Costello syndrome. Much of his research focuses on musculoskeletal abnormalities in RASopathies.
Dr. Eric Browning
Dr. Browning received his Doctor of Dental Medicine Degree from the University of Kentucky in 2004. He then went on to the University of Texas Health Science Center at San Antonio to do a 3 year residency in Periodontics and Dental Implant Surgery. Dr. Browning is a Diplomate of the American Board of Periodontology and has been in private practice for 17 years. He has a 15 year old son with Noonan Syndrome (PTPN11).
Grace Mayr
Grace Mayr is a 24 year old non-binary adult living with Noonan syndrome, PTPN11. They live in Littleton CO with their boyfriend and 2 cats.
They were diagnosed at a year old with Noonan syndrome and PTPN11. When they are not advocating and talking about Noonan syndrome on social media they are working as Lead Nail Technician at a day spa, singing karaoke with family, or at the gym learning weightlifting.
