Confirmed speakers

 Listed by alphabetic order.

• Dr. Catherine Avitabile, MD. She is Assistant Professor of Pediatrics in the Perelman School of Medicine and Attending Cardiologist and Pulmonary Hypertension specialist in the Cardiac Center at the Children's Hospital of Philadelphia. Dr. Avitabile participates in multi-centered clinical trials to advance the care of children with pediatric pulmonary hypertension. Her personal research program studies the impact of musculoskeletal deficits on exercise performance in children with chronic heart and lung diseases. She is an expert in actigraphy and wearable technologies.  Dr. Avitabile has cared for and managed cardiac findings in patients with CHOPS syndrome and attended the first CHOPS syndrome family meeting at Children’s Hospital of Philadelphia in 2019. 

• Dr. Neil Hackett, PhD. Neil Hackett PhD, is an independent consultant based in New York City with extensive experience in  pre-clinical and translational programs for gene therapy. He currently works with research groups and foundations to navigate stem cell and gene therapy projects through pre-IND to IND.  This includes project management, advising on proof-of-concept and  toxicology studies, vector manufacturing and regulatory writing. His background includes professorial appointments at Vanderbilt University and Weill-Cornell Medical College resulting in over 100 academic publications. Dr. Hackett is genetic consultant for Fondazione CHOPS.
  

• Dr. Kosuke Izumi, MD, PhD. Dr. Izumi obtained his MD and PhD at Keio University School of Medicine, where he studied molecular mechanism of pediatric genetic disorders.  He completed clinical pediatrics and genetics training at Rainbow Babies and Children’s Hospital and the Children’s Hospital of Philadelphia. He achieved board certification in pediatrics and medical genetics. After the clinical training, he became a post-doc at the Children’s Hospital of Philadelphia and the University of Tokyo. During his post-doc training, he investigated molecular mechanism of a chromosomal disorder, Pallister-Killian syndrome, and syndromic neurodevelopmental disorders. Prior to joining the University of Texas Southwestern, he was a faculty member of the Children’s Hospital of Philadelphia. In 2023, he joined the Department of Pediatrics, University of Texas Southwestern. His research lab has focused on projects studying the molecular mechanisms of Pallister-Killian Syndrome, nuclear speckle disorders, and chromatin disorders. His group discovered causative genes for many Mendelian disorders, and those include AFF4, ARCN1, NKAP, and CBX1. By employing cutting-edge genomic technologies, his research aims to link the clinical findings of patients with genetic disorders to underlying genomic functional alterations. A two year grant was awarded to Dr. Izumi by Fondazione CHOPS.
  

• Dr. Ian Krantz, MD. He is a Pediatrician and Medical Geneticist.  He is Division Chief of Medical Genetics at Cohen Children’s Medical Center and System Vice President of Genetics at Northwell Health in New York and the Zucker School of Medicine at Hofstra University.  He is also an Emeritus Professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania and attends a monthly CdLS and Related Diagnoses Clinic in the Center for Cornelia de Lange Syndrome and Related Diagnoses at the Children’s Hospital of Philadelphia. His research interests are focused on identifying and characterizing the molecular etiology of syndromic and non-syndromic developmental disorders and assessing the genomic implications of the genes and pathways perturbed in these diagnoses. His research lab has focused on projects studying the molecular etiologies of Cornelia de Lange Syndrome (CdLS), CHOPS syndrome, Pallister-Killian Syndrome (PKS), Alagille syndrome, hearing loss, congenital diaphragmatic hernias and congenital heart defects. Towards this end his lab has identified many new disease genes, novel human disorders and implicated many critical molecular pathways, such as Notch Signaling, Cohesin and the Super Elongation Complex, in human developmental disorders for the first time. Clinically he has been at the forefront of adapting new genomic technologies in the clinical setting (such as rapid genome sequencing into the NICU and CICU) and studying how this evolving, complex and often unclear diagnostic information is understood by, and the impact it has on, the clinicians and families involved.  
  

• Dr. Gemma Levantino, MSc. She is a speech therapist mainly working with patients suffering from neurodegenerative and oncological diseases. As a member working in SAMOT ONLUS, an important Italia nonprofit, leader in the field of palliative care, she follows patients from the age of development to the geriatric age, until the end of their lives, helping them in the maintenance of communicative-linguistic and swallowing functions or possibly by recommending alternative augmentative communication aids and alternative feeds. She performs tutoring activities at the University of Palermo, Italy, by teaching speech therapy in palliative care and supervising students. One of the work she supervised was specifically focused on CHOPS syndrome.

• Manuela Mallamaci, PhD. President and CO-Founder of Fondazione CHOPS Malattie Rare. She is a senior researcher at the department of Physics and Chemistry and she is lecturer at the department of Robotic Engineering at the University of Palermo, Italy. She obtained her PhD in Physics, Astrophysics and Applied Physics in 2017 at the University of Milan, Italy. She is  leading "Fondazione CHOPS Malattie Rare" (CHOPS Foundation Rare Diseases), the only no-profit in the world dedicated to drive and accelerate targeted therapies for CHOPS Syndrome. Fondazione CHOPS was established in May 2023, just a couple of months after the diagnosis of CHOPS for her son Mario who is now 3 years old.

• Dr. Valentina Massa, PhD. Her scientific focus has been directed towards understanding the cellular and molecular mechanisms underlying central nervous system malformations. Since 2012 she has been studying Cornelia de Lange syndrome and other chromatinopathies, using different and complementary modeling systems. She has identified the canonical WNT pathway as a master regulator of the neurodevelopmental alterations for CdLS. She tested in vitro and in vivo lithium for defect rescuing. Through solid collaboration with the patient's association and involved physicians, she established a connection among developmental abnormalities and cognitive impairment paving the way for a clinical trial, demonstrating the feasibility of bench to bedside approach, even in the most challenging setting of rare disease studies. She designed and conducted several public engagement activities over the last 10 years dedicated to the importance of science, the fundamental bidirectional communication with the general public (pupils, teachers, family association etc.) with special attention to girls and women in STEM. Such activities have been recognized with prizes, including the prestigious “Medaglia d’oro di Benemerenza civica della città di Milano” in December 2021. Dr. Massa is a member of the scientific and medical advisory board of Fondazione CHOPS.

• Lainey Moseley, leader of the group CHOPS Syndrome Global. She is the mother of 4 children, and her second oldest, Leta, was the first child in the world diagnosed in 2015 after an 18 year diagnostic odyssey.  At that time a new ultra-rare disease mutation on the Aff4 gene was identified by Dr Kosuke Izumi and Dr Ian krantz at Children’s hospital of Philadelphia and soon after named CHOPS syndrome. Lainey began her rare disease advocacy that day by starting CHOPS Syndrome Global, building awareness in the rare disease world and most importantly, building a small but mighty  community of global families. Lainey spent her professional career as a journalist, working in Washington DC, covering politics for CBS News and later working in New York City for The Evening News w Dan Rather, 48Hours newsmagazine, NBC Nightly News and The Today Show. Lainey is currently an independent filmmaker developing a documentary, RARE: the story of how love drives change for rare disease.
  

• Richard Novak PhD,  CEO & CO-Founder of Unravel BioScience Inc. Richard Novak, Ph.D. is a bioengineer and entrepreneur dedicated to solving unanswerable questions through technology innovation. Prior to Unravel Bio, he was a Lead Engineer at the Wyss Institute for Biologically Inspired Engineering at Harvard University where he managed fast-paced programs in drug discovery, advanced disease models, human Organ Chips, and integrated automation and sensor systems. He has over 15 years of experience in microfluidic system development and applications in the therapeutic space. He is a founder and president of the nonprofit Future Scientist and a founder and director of the sample collection automation company Rhinostics Inc. Dr. Novak and his team at Unravel are carrying out a research project on CHOPS syndrome, funded by Fondazione CHOPS.

• Ilaria Parenti, PhD. Ilaria Parenti is a medical biotechnologist. She received her PhD degree at the University of Milan (Italy) and is currently working as researcher at the Institute of Human Genetics at the University Clinic Essen (Germany). Her research focuses on the clinical and molecular aspects of Cornelia de Lange syndrome and, more broadly, chromatinopathies. A seed grant was awarded to Dr. Parenti by Fondazione CHOPS.
  

• Dr. Mary Pipan, MD. She is a behavioral pediatrician and Director of the Trisomy 21 Program at Children's Hospital of Philadelphia. She received a medical degree from The University of Virginia School of Medicine, Charlottesville. She is board-certified in Behavioral Pediatrics and Pediatrics. Her research interests are Behavioral Support in Children with Special Needs and Developmental Disabilities, Down Syndrome, Genetic Disorders. Dr. Pipan is on the Board of Directors of the Down Syndrome Medical Interest Group-USA (DSMIG-USA). Dr. Pipan has expertise in caring for children with Cornelia de Lange Syndrome and related diagnoses of which CHOPS syndrome is included. She has also attended the past CHOPS syndrome Foundation family meeting at CHOP in 2019. She is also Co-director, Developmental Behavioral Pediatrics Fellowship Program, The Children's Hospital of Philadelphia.  
  

• Ethan Perlstein, PhD. CEO of Perlara. Over the course of the last decade, first as a graduate student at Harvard University in the Department of Molecular and Cell Biology with PhD advisor Professor Stuart Schreiber and then as an independent postdoctoral fellow at the Lewis-Sigler Institute at Princeton University, Dr. Ethan Perlstein developed an approach to studying old drugs and discovering new drugs in model organisms called evolutionary pharmacology. Ethan is an author on 19 peer-reviewed scholarly publications, including the discovery of a novel mechanism of action for the antidepressant Zoloft based on studies in yeast cells.  As CEO of Perlara and cure Sherpa, Dr. Ethan Perlstein mission is to be a disrupter in the research and drug development model to discover cures for rare genetic diseases. Perlara collaborates with Fondazione CHOPS.

• Prof. Ali Shilatifard. He is an American biochemist, molecular biologist, the Robert Francis FurchgottProfessor and chairman of the department of biochemistry and molecular genetics, and the director of the Simpson Query Institute for Epigenetics at the Northwestern University Feinberg School of Medicine. He has served as a member of the Senior Editorial Board for the journal Science. He also served as the founding Deputy Editor and the first academic Editor for Science's open access journal Science Advances between 2014 and 2023. During his tenure as the editor of Science Advances, the journal brought onboard roughly 50 deputy editors and over 350 associate editors managing over 22,000 annual submissions and roughly 2,000 annual publications, reaching an impact factor of 14.98. He has served on the Scientific Advisory Board (SAB) of Keystone Symposia, Max Planck Society, and Genentech and is a member of the jury for the BBVA Foundation Prize in Medicine. Research in Shilatifard's lab focuses on the cause of childhood leukemia through chromosomal translocations, the role of ELL in this process, and the discovery of the Super Elongation Complex as being a central complex linking MLL translocations into a diverse number of genes to leukemic pathogenesis. He is an elected fellow of the American Association for the Advancement of Science (AAAS), and elected member of American Academy of Arts & Sciences (AAA&S).

• Dr. Junyoung (Jun) Sonn, PhD. He is currently a postdoctoral fellow in Huda Y. Zoghbi’s lab at Baylor College of Medicine. He received his Ph.D. in Biological Sciences from Korea Advanced Institute of Science and Technology under the mentorship of Joonho Choe. During his Ph.D., Jun studied the genetic mechanisms regulating sleep in Drosophila. In the Zoghbi lab, Jun is utilizing a cross-species approach to elucidate novel interactors of MeCP2 and studying the mechanistic basis by which their interactions regulate transcription. A seed grant was awarded to Dr. Sonn by Fondazione CHOPS.
  

• Sarah Raible, MS, CGC. She is a genetic counselor, Clinical Director of the Center for Cornelia de Lange Syndrome (CdLS) and Related Diagnoses, and Rare Disease Core Leader in the Roberts Individualized Medical Genetics Center (IMGC) at Children’s Hospital of Philadelphia. She received her undergraduate training from Boston College and earned her master’s in genetic counseling from the University of Pittsburgh in 2012. Since joining the CdLS center in the summer of 2012, Raible’s focus has been on expanding clinical and research programs of the center. She oversees all administrative and patient care operations for the center and is the primary contact for families interested in our monthly multidisciplinary clinics, serving as a resource before, during and after their visit. Raible also assists families interested in enrolling in CHOP’s CdLS research studies or participating in the telemedicine/virtual consultation program. Raible is the primary mentor and thesis supervisor for students participating in the Marie Barr Genetic Counseling Award and is spearheading several research projects related to the care and management of children with CdLS. She also has taken on oversight of the National Institutes of Health (NIH) grants that help support the research mission of the center.

• Alix Seif, MD, MPH. He is a pediatric oncologist at the Children's Hospital of Philadelphia and has been in practice for more than 20 years. She is an Innovation Faculty member at the Penn Center for Cancer Care Innovation (PC3I), an attending physician in both the Blood and Marrow Transplantation and the Hematologic Malignancies sections at the Children’s Hospital of Philadelphia (CHOP), Associate Professor of Pediatrics at the Perelman School of Medicine, and past holder of the Richard and Sheila Sanford Endowed Chair in Pediatric Oncology. Her current research focuses on developing and implementing patient-centered interventions to improve outcomes, quality of life, and equity for pediatric patients with leukemia. Dr. Seif is also interested in collaborating with patients and their caregivers to improve the clinical research consent process for children undergoing cancer therapy. She is partnering with patients and caregivers from marginalized or minoritized communities to inform the development of these novel interventions, aiming to mitigate historical inequities. 

• Lisa R. Young, MD  She is Chief of the Division of Pulmonary and Sleep Medicine at Children’s Hospital of Philadelphia and Professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania. Before joining CHOP, Dr. Young was an Associate Professor of Pediatrics, Medicine, and Cell & Developmental Biology at Vanderbilt University and Director of the Center for Childhood Lung Research and the Pediatric Rare Lung Diseases Clinical Program at Vanderbilt University Medical Center. She was an undergraduate at the University of Virginia (where she was a Jefferson Scholar), earned her MD at Duke University, completed residency training in Pediatrics and Internal Medicine at Duke University, and completed fellowship training in Pediatric Pulmonology and Adult Pulmonary/Critical Care Medicine at Cincinnati Children’s Hospital Medical Center and the University of Cincinnati. Following her fellowship training, she joined the faculty at the University of Cincinnati for six years, then relocated to Vanderbilt in 2011.  She has been well-funded by the NIH and other funding agencies for both laboratory and clinical research on a variety of lung diseases and is currently principal investigator on 2 NIH R01 awards, an NIH U54 project, and a K24 Midcareer Award in Patient-Oriented Research. She has particular interest in interstitial and other rare lung diseases including Hermansky-Pudlak syndrome, neuroendocrine cell hyperplasia of infancy, primary ciliary dyskinesia, bronchopulmonary dysplasia, and lymphangioleiomyomatosis. Dr. Young has received multiple awards for her research, including the American Thoracic Society Robert B. Mellins Outstanding Achievement Award, the American Thoracic Society Public Advisory Roundtable Excellence Award, the LAM Foundation Scientific Advancement Award, and a Parker B. Francis Foundation Fellowship. She has received recognition for her clinical skills from Best Doctors in America, Cincinnati Magazine, and the Hermansky-Pudlak Syndrome Network.  Dr. Young is committed to improving child lung health through expanding the outstanding clinical, training, and research programs in the Division of Pulmonary Medicine at CHOP. She attended the first CHOPS syndrome meeting in 2015 and has an interest in this patient population.  

• Stephanie A. Zbikowski, MACCCSLP. She is an outpatient speech-language pathologist at the Children’s Hospital of Philadelphia’s Center for Childhood Communication. She focuses on working with complex communicators and their families. Stephanie is a 2003 graduate of The College of NJ School of Education (BS in Education of the Deaf and Hard of Hearing) and 2006 graduate of Temple University College of Allied Health Professions (MA in Speech, Language, and Hearing Sciences) and a 2023 graduate of University of Illinois’ College of Applied Health Sciences (Assistive Technology Certificate Program). She holds active certification with the Neurodevelopmental Treatment Association (NDTA) and American Speech-Language Hearing Association (ASHA). Stephanie is also a member of the International Society for Augmentative and Alternative Communication (ISAAC).