Our Conference Speakers

McPosium Speakers and Panelists

Dr. Bennett is a pediatric gastroenterologist, clinical informatician, decision scientist, and computer scientist at Indiana University School of Medicine.  He has board certifications in pediatrics, gastroenterology, and clinical informatics. His research focuses on using health information technology to improve providers’ adherence to evidence-based medicine, automated screening for anxiety and depression in subspecialties, and understanding patient and family preferences related to the use of immunosuppression.  Dr. Bennett also specializes in the analysis of very large clinical data sets using cutting edge computational methods to analyze practice patterns, minimize costs, and track patient outcomes.  He has a clinical interest in family-centered care and the complex needs of families with special needs children.  His daughter, Cecilia, has Phelan-McDermid Syndrome, which has driven an interest in developing programs that meet the subspecialty needs of children with complex developmental gastrointestinal problems.

Jon Bernstein is an Associate Professor of Pediatrics and by courtesy of Genetics at the Stanford School of Medicine.  He serves as Chief of the Division of Medical Genetics in the Department of Pediatrics.  He received his MD and PhD in genetics from Stanford in 2003.   After graduation he completed residency training in pediatrics and then medical genetics in 2008.  Following residency, he joined the faculty at Stanford. His research focuses on the diagnosis, management and discovery of genetic syndromes associated with developmental disability.  Current investigations include the Undiagnosed Diseases Network Clinical Site at Stanford and NIH RDCRN Developmental Synaptopathies Consortium study of Phelan-McDermid and PTEN studies.  Dr. Bernstein’s clinical work encompasses his practice as a medical geneticist and medical direction of the Stanford Cleft and Craniofacial Center.

Elizabeth Berry-Kravis MD, PhD is a Professor of Pediatrics, Neurological Sciences, and Biochemistry at Rush University Medical Center in Chicago.  She established the comprehensive Fragile X Clinic and Research Program in 1991, through which she provides care to over 600 patients with fragile X syndrome (FXS). Her research has included studies of medical issues, epilepsy and psychopharmacology in FXS, characterization of neurological problems in FXTAS, and in particular translational work in FXS including outcome measures and biomarkers, natural history, newborn screening, and design and implementation of clinical trials of new targeted treatments in FXS. Her laboratory studies the cellular role of fragile X mental retardation protein (FMRP), relationship between FMRP and clinical function, and methods for optimizing genetic testing in fragile X-associated disorders. More recently she has expanded clinical management and translational work to other developmental and degenerative disorders including Niemann-Pick type C, Down syndrome, Rett syndrome, autism spectrum disorders, Phelan McDermid syndrome, sex chromosome aneuploidies and Angelman syndrome. She is on Advisory Boards for the FRAXA Research Foundation, National Fragile X Foundation numerous pharmaceutical companies working in the neurodevelopmental and neurodegenerative disorders space. She is Chair of the Clinical Committee of the Fragile X Clinical and Research Consortium. She has received the NFXF Jarrett Cole Clinical Award, FRAXA Champion Award, Ups for Downs Commitment to Excellence Award, NFXF William and Enid Rosen Research Award, March of Dimes Jonas Salk Research Award, American Academy of Neurology Sidney Carter Award in Child Neurology and John Merck Fund Sparkplug Award.

Catalina Betancur received her medical degree in Medellin, Colombia, followed by a PhD in neuroscience in Bordeaux, France. She is Director of Research at the INSERM (National Institute of Health and Medical Research), Sorbonne Université, Paris. Dr. Betancur’s work is focused on the elucidation of the genetic basis of autism spectrum disorder (ASD). She is involved in international consortia performing large-scale analyses of rare structural and sequence variants in ASD, notably the Autism Sequencing Consortium. She has a long-standing interest in SHANK3 and Phelan-McDermid syndrome (PMS) and is involved in the PMS Foundation as well as in the parent association in Spain.

Geraldine Bliss has served as PMSF’s Research Support Committee chairperson for seven years. In that role she chaired the first scientific strategic planning initiative, successfully applied for grant to further PMSF research support initiatives, organized three scientific symposia (2011, 2012 and 2014), a Banbury meeting (2013), multiple workshops and think-tanks on PMS, the Phelan-McPosium (2016), and family conference research sessions (2010, 2012 and 2014), established the PMS resource repository partnerships with CIRM, Autism BrainNet and the NIMH, among other accomplishments. Geraldine has a Bachelor’s degree from Trinity University and a Master’s in human factors (health and human performance) from the University of Houston. Geraldine said her personal mission is to eventually have cures for PMS. “I joined PMSF’s Board to help grow our organizational capacity to more effectively support drug development,” she said. Geraldine and her husband, Brad, of Houston have two boys, Charles, 18, and Nathan, 16. Charles has PMS caused by a partial deletion of the SHANK3 gene. Their family has organized two fund-raisers, the Great Love luncheon and a golf tournament. Geraldine says she’s always up for an adventure, loves to ski and is learning how to play the mandolin.

Joseph D. Buxbaum, PhD is a Professor of Psychiatry, Genetics and Genomic Sciences, and Neuroscience, and serves as the Director of the Seaver Autism Center for Research and Treatment and is the Deputy Chair of the Department of Psychiatry. Dr. Buxbaum is a renowned molecular geneticist whose research aims to understand the molecular and genetic basis of autism spectrum disorder and other neurodevelopmental disorders, with the goal of developing novel therapeutics. Dr. Buxbaum is a founder and communicating Principal Investigator of the Autism Sequencing Consortium, currently analyzing whole exome sequencing from 38,000 individuals to identify ASD genes. In addition, his lab has numerous human stem cell lines ongoing and has characterized more than a dozen rodent models for ASD and associated disorders. Dr. Buxbaum received his BSc in Math and Biology from Touro College, and his MSc and PhD in Neurobiology from the Weizmann Institute of Science in Israel. Dr. Buxbaum completed a Postdoctoral Fellowship in Molecular and Cellular Neuroscience at the Rockefeller University. Dr. Buxbaum was elected to the National Academy of Medicine in 2015.

Dr. Nathan Call is an Associate Professor in the Department of Pediatrics at Emory University School of Medicine and the Clinical Director of the Marcus Autism Center. Dr. Call’s has clinical background in the assessment and treatment of severe forms of challenging behavior, such as aggression, self-injury, and property destruction. His research focuses on developing novel approaches to identifying the function of these behaviors in individuals with autism and related disorders, developing interventions to address them, and studying the factors that facilitate or serve as barriers to their implementation.

Dr. Ricardo Dolmetsch is Global Head of Neuroscience at the Novartis Institutes for Biomedical Research. His group is responsible for developing medicines to treat neuropsychiatric, neurodevelopmental and neurodegenerative diseases.  The group is focused on targets and mechanisms that have been validated in humans either by human genetic studies or by astute clinical observations.  The department is a world leader in developing preclinical models of disease using human induced pluripotent stem cells and has also developed novel methods for studying the function of circuits in the brain. Ricardo joined Novartis from Stanford University where he was a Professor in the school of medicine.  He was also a Senior Director at the Allen Institute for Brain Science.  His group studied the molecular basis of autism and other neurodevelopmental disorders and was one of the pioneers in using induced pluripotent stem cells to model disease.  His laboratory also played an important role in elucidating the molecular basis of calcium signaling in the developing nervous and immune systems. Ricardo received his undergraduate degree from Brown University, his graduate degree from Stanford University and was a postdoctoral fellow at Harvard University.  He continues to be an adjunct professor at Stanford Medical School.

Guoping Feng, PhD Dr. Feng is the Poitras Chair Professor of Neuroscience in the McGovern Institute for Brain Research, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology. He is also an Institute Member of the Broad Institute of MIT and Harvard and the Director of Model Systems and Neurobiology at the Stanley Center for Psychiatric Research at Broad Institute. Dr. Feng’s research is devoted to understanding the mechanisms regulating the development and function of synapses in the brain and how synaptic dysfunction may contribute to psychiatric disorders.  Using genetically engineered animal models, Dr. Feng’s laboratory combines cutting-edge technologies and multidisciplinary approaches to unravel the neurobiological mechanisms of neurodevelopmental and psychiatric disorders. Dr. Feng studied medicine at Zhejiang University School of Medicine in Hangzhou, China.  He did his PhD training with Linda Hall at the State University of New York at Buffalo and postdoctoral training with Joshua Sanes at Washington University in St. Louis.  Prior to joining the faculty at MIT, he was a faculty member in the Department of Neurobiology, Duke University School of Medicine.

Alycia Halladay is the Chief Science Officer for the Autism Science Foundation, where she oversees the scientific activities, grants, and initiatives of ASF.  The Autism Science Foundation focuses on investments in junior level career researchers to both improve scientific discovery while training the next generation of scientists using cutting edge technologies.  These awards include pre and post doctoral fellowships, undergraduate awards, accelerator grants, the Autism Sisters Project and the Baby Siblings Research Consortium.  In addition, the Autism Science Foundation provides outreach and communication support to the Autism BrainNet, helping to explain the importance of this program to families and individuals with ASD.   Prior to joining ASF in 2014, she served as the Senior Director of Clinical and Environmental Sciences at Autism Speaks.  She received a PhD in biopsychology from Rutgers in 2001 and completed a postdoctoral fellowship in pharmacology and toxicology at the University of Medicine and Dentistry of NJ in 2004.  She still holds a faculty appointment at Rutgers.

Dr. Jimmy Holder is an Investigator at the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital. He is also an assistant professor of Pediatrics in the division of Neurology and Developmental Neuroscience at Baylor College of Medicine. He received his undergraduate education at The Johns Hopkins University followed by MD and PhD in Human Genetics at the University of Texas Southwestern Medical Center in Dallas, Texas. He then completed his clinical training in Pediatrics and Child Neurology at Baylor College of Medicine. Dr. Holder has established a Synaptopathy clinic at Texas Children’s Hospital to care for children with neurological disorders due to mutations in genes critical for synapse function. In his laboratory, he studies how mutations in these same genes result in molecular, neuronal and circuit abnormalities. He is further investigating genetic modifiers of these genes as potential therapeutic entry points for neurodevelopmental disorders.

Joseph P. Horrigan, MD, is a pediatric neuropsychiatrist. He has 22 years of experience in the pharmaceutical and biotech industry, both as a clinical investigator and as a sponsor. Dr. Horrigan was a Senior Director in the Neurosciences Medicines Development Center at GlaxoSmithKline, where he also co-founded and led the company-wide Medicines for Children Advisory Network that collaborated with all therapeutic areas in the company. Dr. Horrigan also served as Assistant Vice President and Head of Medical Research for Autism Speaks, the largest science and advocacy organization in the U.S. devoted to autism spectrum disorders (ASD). He subsequently served as Vice President of Clinical Development and Medical Affairs for Neuren Pharmaceuticals Limited, leading that company’s clinical development efforts in neurodevelopmental disorders and traumatic brain injury. Dr. Horrigan is currently the Chief Medical Officer for AMO Pharma Ltd., an emerging biopharmaceutical company that is focusing on orphan diseases, neuromuscular and neurodevelopmental disorders with significant unmet medical needs. Dr. Horrigan received his Sc.B. degree from Brown University and his medical degree from the University of Rochester. Dr. Horrigan has been a longstanding scientific advisor to FRAXA and he is also a Consulting Associate Professor at the Duke University Center for Autism and Brain Development in Durham, North Carolina.

Dr. Yong-hui Jiang is Professor of Pediatrics in the Division of Medical Genetics and an Professor of Neurobiology at Duke University Medical Center.  In addition, he is an investigator in the Duke Institute of Brain Science and a member of the Duke University Graduate Programs in Genetics and Genomics and Cellular and Molecular Biology. Dr. Jiang is a physician scientist and active practicing physician at Duke Children’s Hospital and Duke Hospital.  He received his MD at Shanghai Medical College of Fudan University in China and his PhD in Human and Molecular Genetics at Baylor College of Medicine under the mentorship of Arthur Beaudet.  He completed a residency in pediatrics and fellowship in clinical genetics and medical biochemical genetics at the Texas Children’s Hospital and Baylor College of Medicine.  He is board certified in Pediatrics by American Board of Pediatrics, Clinical Genetics and Medical Biochemical Genetics by American College of Medical Genetics and Genomics. His clinical interest is inborn error of metabolism and genetic evaluation of neurodevelopmental disorder and rare disorders. He is the investigator of Duke Undiagnosed Network, a NIH supported program.  Jiang’s research program focuses on to investigate molecular and neurological bases of human neurodevelopmental and neurobehavioral disorders, dissect the disease pathogenesis in human using genomics approach and in mutant mice models using neurobiological methods, and ultimately develop the molecular specific treatment for these disorders.

Dr. Teresa (“Tesi”) Kohlenberg is a child psychiatrist and also the mother of a teen with Phelan-McDermid Syndrome. She did her medical and pediatric training in New York City, and then trained in Developmental-Behavioral Pediatrics. After eight years as a pediatrician on staff at the Boston University School of Medicine, she went on to further training in Child and Adolescent Psychiatry at the Children’s Hospital of Boston.  For the past twenty years she has worked in Child and Adolescent Psychiatry in a range of settings, including private practice and consultation to community service programs and schools. Dr. Kohlenberg’s daughter was diagnosed with PMS at age 16, after she started to have complex bouts of neuropsychiatric illness. These experiences have led her mother to work to understand the causes of acute neuropsychiatric episodes and associated loss of skills in people with PMS, and to find ways to prevent or intervene early in this sort of episode. Dr. Kohlenberg has been active with the PMSF since her daughter’s diagnosis. She has helped to collect the stories of families whose children have had neuropsychiatric episodes and has helped to organize the PMS Neuropsychiatric Consultation Group (ECHO project) a team of experts in PMS who will provide consultation by video-conference to doctors caring for patients with PMS and neuropsychiatric difficulties.

Dr. Alex Kolevzon is a child and adolescent psychiatrist and Professor of Psychiatry and Pediatrics at the Icahn School of Medicine at Mount Sinai. He serves as the Director of Child and Adolescent Psychiatry for the Mount Sinai Health System and the Clinical Director of the Seaver Autism Center for Research and Treatment at Mount Sinai. His research interests pertain to understanding the neurobiology of autism and related neurodevelopmental disorders, biomarker discovery, and developing novel therapeutics. Most recently, his group has focused on studying specific genetic forms of autism, including Phelan-McDermid syndrome and Fragile X syndrome, in order to explore targets for pharmacological intervention. Dr. Kolevzon leads the Experimental Therapeutics Program at the Seaver Autism Center which conducts studies that range from small pilot trials to multi-centered pivotal FDA studies. He is a frequently invited speaker regionally, nationally, and internationally and is also extremely committed to medical student and residency education as an active teacher, mentor, and clinical supervisor.

Abby Lievence Lagunoff is one of PMSF’s newest Board Members and is eager to give what it takes to help nurture and further grow the spirit of our Foundation. She was born and raised in Marinette, WI, but was called to Los Angeles, CA in 2000, where she remains to this day. She finished her undergraduate studies at UCLA in 2003 and has worked as a commercial real estate consultant since then. Abby, and her husband Jonas, are the proud parents of Darus James, their only living child. Darus was diagnosed with Phelan McDermid Syndrome (specifically, a Shank3 mutation) in September of 2014, shortly after his fourth birthday. Since then, Abby has evolved into a fierce advocate for her son and all people that have special needs. In her free time, she enjoys gardening, hiking and going to the beach with her family.

Pilar L. Magoulas, MS, CGC  is a certified genetic counselor and Assistant Professor in the Department of Molecular and Human Genetics at Texas Children’s Hospital and Baylor College of Medicine. She received her Bachelor of Science degree in Psychology from the University of Florida in 2001 and a Master 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 Pediatric Genetics clinic, and Chief of the Division of Genetic Counseling. Pilar is a member of the National Society of Genetic Counselors and American College of Medical Genetics. She serves on the Board of directors 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 the RASopathies Network USA, and serves on the Program Committee for the American College of Medical Genetics and Genomics.

Ann Neumeyer, MD is a child neurologist, Assistant Professor of Neurology at Harvard Medical School and medical director of the Lurie Center for Autism. She received an AB in chemistry at Dartmouth College, her MD at Dartmouth Medical School. She completed her pediatrics training at Montreal Children’s Hospital and Boston City Hospital and child neurology training at Massachusetts General Hospital, where she still works. She has a passion and expertise in the diagnosis and treatment of children with neurodevelopmental disabilities such as autism, more specifically in medical and neurological issues that present with autism. As a member of the steering committee of the Autism Treatment Network and the HRSA funded Autism Intervention Networks in Physical Health, she has worked to develop better clinical care for children in North America. She has worked with various organizations and industry and conducted clinical trials in children with ASD, both with phenotyping and treatment studies. Her clinical observations have fueled a strong interest in investigations of metabolic and bone development issues in children with autism as well as medical comorbidities in autism and the impact of diet upon medical issues in children with autism. In addition she works with community and hospital systems to improve care of children and adults with autism and developmental disabilities within the hospital setting.

Katy Phelan is Director of Cytogenetics at Florida Cancer Specialists and Research Institute in Fort Myers, Florida. She is a member of the American Society of Human Genetics, a Founding Fellow of the American College of Medical Genetics and Genomics (ACMGG) and serves on the Board of Directors of ACMGG. She earned a BS in Biology from Spring Hill College in Mobile, AL, and a PhD in Human Genetics from the Medical College of Virginia, Richmond. Her interest in deletion 22q13 (later named Phelan-McDermid Syndrome) commenced in 1988 when she and her colleagues at the Greenwood Genetic Center in South Carolina performed chromosome analysis and clinical evaluation of a newborn with the deletion. While at Greenwood, Katy and her coworkers organized the first Deletion 22q13 Family Support Group Meeting in 1998. The rest is history.

Craig M. Powell, M.D., Ph.D., F.A.A.N., F.A.N.A.  Dr. Powell is the Ed & Sue Rose Distinguished Professor of Neurology, Psychiatry, and Neuroscience at UT Southwestern Medical Center who has studied preclinical models of autism risk genes for more than a decade. Dr. Powell’s work characterizing genetic autism mouse models based on Neuroligin 3, Neuroligin 1, Neurexin 1, PTEN, Shank3 and other genetic causes of autism has provided novel insights into the pathophysiology of autism and novel therapeutic targets for autism and intellectual disability. Dr. Powell has established himself as someone capable of extensive autism-relevant behavioral characterization of mouse models.  Also, he has considerable experience with advanced electrophysiological characterization of such models at cortical, hippocampal, and more recently striatal synapses. Recent inroads into translation of molecular mechanisms into successful preclinical treatment of these autism models are now being translated into patients with specific genetic causes of autism. He has also begun to examine patients with known genetic causes of autism to link his mouse model studies to children and adults affected by the same genetic mutations. His laboratory has been continuously funded by Autism Speaks since the beginning of the Foundation and the beginning of his laboratory.

Latha Soorya, PhD, BCBA is a clinical psychologist, board certified behavior analyst (BCBA) and Assistant Professor in the Department of Psychiatry. Dr. Soorya has expertise in the characterization and treatment of people with neurodevelopmental conditions including autism spectrum disorder (ASD).  Drs. Soorya’s research includes developing cognitive and social phenotyping protocols for multi-site genetic and intervention studies, development and testing of targeted, multi-modal socialization interventions in individuals with ASD, and evaluation of evidence-based practices in NDDs in the community. Dr. Soorya serves as Director of the AARTS Center @ Rush, a multi-disciplinary program providing lifespan services for individuals with ASD at Rush and in the community (www.rush.edu/autism). Drs. Berry-Kravis and Soorya are principal investigators of the PMS natural history study at Rush.

Audrey Thurm, Ph.D. Director, Neurodevelopmental & Behavioral Phenotyping Service.  Dr. Thurm is a staff scientist in the NIMH Office of the Clinical Director. She is a licensed child clinical psychologist who specializes in autism spectrum disorder and other neurodevelopmental disorders. She received training at DePaul University and Boston Children’s Hospital/Harvard Medical School, and conducted a post-doctoral fellowship at Johns Hopkins School of Medicine. She has been at NIMH since 2002, serving in the extramural program until 2006, as chief of both the Autism and Social Behavior Program, and the Compulsive Repetitive Behaviors Program. In 2006 she moved to the intramural program to help launch the autism research program. She has expertise in longitudinal studies and an interest in markers of the early diagnosis of autism, as well as in genotype-phenotype relationships for genetic disorders associated with neurordevelopmental disorders. She studies rare genetic disorders associated with intellectual disability, including metabolic disorders and neurodegenerative disorders.

Dr. Kent Williams is a Pediatric Gastroenterologist at Nationwide Children’s Hospital in Columbus, Ohio.  Dr. Williams’ clinical interests involve all aspects of pediatric gastroenterology, with a special interest in GI disorders in children with developmental disorders. As an investigator at Nationwide Children’s he conducts clinical translational research into the causes and treatments of functional gastrointestinal disorders, such as abdominal pain, constipation, and reflux, in children with Autism and other developmental/genetic disorders. 

Christopher Winrow  completed his Ph.D. at the University of Alberta and post-doctoral fellowship at the Salk Institute in La Jolla, CA. Dr. Winrow has an extensive background and publication record in neurodegenerative and psychiatric diseases with areas of focus including Alzheimer’s Disease, Parkinson’s Disease, dementia, sleep disorders, autism, and orphan diseases. He has authored more than 75 publications, is co-inventor on multiple patents, co-authored 10 approved eIND/INDs and has over 15 years of neuroscience drug discovery and development experience. Dr. Winrow has delivered five compounds from screening through successful clinical proof of concept. He led the Belsomra®discovery team from screening to regulatory approval in less than 10 years, resulting in this first-in-class CNS therapeutic garnering approvals by U.S. and international regulatory agencies. Dr. Winrow held roles of increasing responsibility during his career at Merck & Co., Inc., and is currently at Ironwood Pharmaceuticals in Cambridge, MA serving as Senior Principal Investigator and Research Fellow where he leads multidisciplinary drug discovery and development teams for serious and orphan diseases.  Christopher and Dana Winrow are parents to Torrey and Johnathan (a child with PMS), and live in Sudbury, MA along with GrandD Darlene and their two Labrador retrievers Maple and Toque.

Dr. Lei Zhou obtained his undergraduate training in Biophysics from the Department of Physics at Nankai University (1988-1992) and PhD degree in Neurophysiology from University of Wisconsin-Madison in 2000. Between 2000 and 2008, he had been studying structure and function of pacemaker HCN channels at the Center for Neurobiology and Behavior of Columbia University, first as a Postdoctoral Fellow and then an Associate Research Scientist. In 2008, Dr. Zhou started to establish an independent research group at Virginia Commonwealth University School of Medicine. His research involves the techniques of patch-clamping recording, optical recording, biochemistry, structural biology and computational chemistry approaches. His research interests include; Biophysics mechanisms of ion channels: State-dependent binding of cAMP to functioning full-length HCN channels. Allosteric communication between the gate and the cAMP binding domain in HCN channels. Technique of patch-clamp fluorometry and its application to membrane protein biophysics. Photodynamic modification of HCN channels mediated by singlet oxygen.  Physiology functions of ion channels: Neurophysiology function of HCN channels in the thalamocortical and thalamoreticular neurons. Impacts of SHANK3 isoforms on the expression and function of HCN channels. Cellular and network defects in the thalamus caused by autism-related SHANK3 mutations and HCN channelopathies. Cardiac physiology function of HCN channels expressed in the sinus atrial nodal cells. Protein structure and dynamics:  Methodology of coarse-grained normal mode analysis and its application to protein dynamics. Theoretical and experimental bases of the anisotropic displacement parameters (ADP) determined by high-resolution X-ray crystallography.

Family Conference Speakers

Kate Ahern is an intensive special needs teacher, certified for ages birth through adult in Massachusetts, and an assistive technology specialist. She has spent twenty years working with children and young adults who have complex communication needs. She is also the author of a popular special education blog and moderates several social media groups about augmentative and alternative communication.

Nick Assendelft is Vice President of the Phelan-McDermid Syndrome Foundation, a position he’s held since the group’s founding in 2002. He has been instrumental in the evolution of the PMS Foundation into the most important advocate worldwide of those diagnosed with PMS and their families. He is closely involved in every facet of the Foundation: working with volunteers, fund raising, conference planning, communications, developing a new logo, family liaison, lobbying, advocacy and global outreach. Nick is the head of the Communications Committee, executing media plans for all of the Foundation’s initiatives, and is the editor of the PMSF UPDATE monthly newsletter. He and his wife, Ruth, have a son, Jacob, who was one of the original 25 cases of Phelan-McDermid Syndrome to be identified. Jacob has an older sister, Rachel, who also volunteers with the Foundation. The family has attended every Support Group conference since the inaugural gathering in Greenville, South Carolina, in 1998. Nick is the media relations coordinator and public information officer for the Michigan Public Service Commission and the Michigan Agency for Energy. Prior to that, he worked at newspapers in Detroit, New Orleans, Pittsburgh, Utica, N.Y., and other cities. He has a degree in journalism and political science from Central Michigan University. Nick also is a member of the Board of the Old Newsboys’ Goodfellows Fund of Detroit, which provides Christmas gifts to underprivileged children in the Detroit area.

Ronni Blumenthal started her career at an adult day treatment center in Sparkill, NY. She started as the executive assistant but quickly found her way into the classroom where she ran a visual arts program and became the coordinator for a group of young adults with autism. Ronni continued to work with agencies in the New York area, and spent eleven years at Greystone Programs, Inc., most of which were spent as the CEO. Taking over after the founder’s retirement, Ronni grew the program into a five county area along the Hudson River, offering services for all ages with a focus on autism and people with severe reputations/challenging behavior. Ronni has lectured across the country and abroad with a focus on practical approaches to working with children and adults with autism, as well as the professionalization of direct support staff who work with them. After a hiatus of ten years where Ronni was the vice president of a large organic produce distribution center, she is happy to have returned to her roots and is delighted to be working with the board, staff, and volunteers of PMSF. Ronni lives in Sarasota with her husband Pearse, her two children, Dov and Mariela, and four furry family members.

Cathy Bottini lives in lower Hudson Valley of New York with her husband Joe and two adult sons. Her younger son, Kevin, is a Middle School teacher and her older son, Christopher, diagnosed with PMS is 37.  Christopher is a die-hard sports fan, especially the Yankees and NASCAR.  Cathy is an advocate for Christopher and has created rich life for him.  He benefited from early intervention and an abundance of services throughout his schooling.  His first genetic testing was first completed in 1989 – many years before Phelan-McDermid Syndrome became known. It was not until Christopher was 29 that he was diagnosed with PMS. He has participated in Special Olympics, Baseball and Scouts. Christopher has even traveled with his Special Olympics team in state-wide events.  He loves to sing off-key, watch his favorite movies, TV shows and attend family parties. But most of all he loves his dog, Ernie.

Debbie ‘Rubia’ Chavez, originally from the ‘Show Me State’, has lived in Oklahoma the majority of her life. She and her husband, Jose Angel, are successful business owners and have semi-retired since selling their painting company. She is a mother, a grandmother, and recently a great grandmother to a large blended family. She has a degree in Spanish and has used her language skills to help translate, both professionally and voluntarily, in the Hispanic community. She is an active participant in the Kindness Rock Project and uses geocaching as a family activity that all can be involved in. Since retirement Rubia and her husband enjoy life on a small ranch near Lake Keystone.  Rubia’s daughter, Ashlee, is 27 and has Ring 22 with the breakpoint at 22q13.33. Ashlee received her diagnosis in 1993 at the age of 2 ½ years of age. Rubia has recently gone through the process of transitioning her daughter into a group home setting and as a first-time participant at a PMS conference and she looks forward to sharing her story and meeting other parents.

Genevieve (Gen) Chevalier, PMS Mom to Anthony who is 4 years and was diagnosed with PMS at 15 months old. Gen and her husband also have two daughters; Sofia who is 8 years old and Giulia who is 7 years old. Gen lives in Laval (Montreal), Canada.  This is Gen’s second time attending the conference.  Among the many ways Gen is an active participant in PMSF, in 2016, she and her husband co-chaired the HOPE Gala in Montreal to raise money and awareness for PMS.

Judith Coucouvanis, MA, PMHCNSis a psychiatric nurse practitioner at the University of Michigan Division of Child and Adolescent Psychiatry. She has assisted countless families in toilet training their children and is an expert in strategies that have produced remarkable results for parents of children with developmental disabilities. Judith is the author of The Potty Journey: Guide to Toilet Training Children with Special Needs, Including Autism and Related Disorders. The Potty Journey was named a 2010 National Parenting Publications Awards (NAPPA) Gold winner.

Erica Cox, PMS Mom, lives in Mobile, AL with her husband and three children: Carter 9 (PMS), Kenzie 7, Cooper 8 months. Her sweet Carter give lots of love. Erica refers to him as “our cuddle bug”.  Erica and her family have been important participants in the PMSF conference, sharing their experiences about raising and a family including a son with PMS. Her Carter puts a smile on everyone’s face!

Amber Curell is the oldest of 4 and the big sister to Caitie who is 23 and affected by Phelan McDermid Syndrome.  She  grew up in Michigan on her parents’ farm.  Her family is very close. Even though Amber and all of her siblings have moved out we all live within 20 minutes of the farm. Family is everything to Amber. Amber works as a certified nurse aid caring for the elderly. Helping others is her passion. Ten years ago, Amber chose to become a CNA after seeing Caitie in and out of the hospital and seeing how 1 person could make a difference in the lives of a family.  Amber was 9 years when she started attending the Phelan McDermid Syndrome conference in 1998 when the families first got together. Seeing the conference and family grow has been amazing to her.  Amber understands how having the support of other families has helped her and made a difference in her life. She wants to help other siblings and let them know that they are not alone;  there are others out there who know what Phelan McDermid Syndrome is and know what it is like to have a sibling affected by it.

Kathy Fiscus lives in Iowa with her husband, Dan, and their two children; Naomi is 11 and Cyrus is 8. She homeschools her daughter and is an avid advocate for her son Cyrus, who has Phelan-McDermid Syndrome.  She believes that all people, regardless of their abilities, are valuable and deserve an enriching life in which they can strive to be their best selves. It is with this passion and vision that she founded Sunrise Village in 2017; a non-profit organization that will be creating farm-based residential, vocational, and day programs that are nurturing and parent-approved.  Kathy has been a stay-at-home mom since 2006 and a home educator since 2012. From 2013 to 2017 she was the secretary and treasurer for a small business she started with her husband. She has studied education, genetics, neurology, business, and the social sciences. She enjoys gardening and a good laugh.

Debbie Graham lives with her husband, Butch, in Naples, Florida. They have two sons; Joshua, who lives in Jersey City and works in NYC and Daniel and his wife, Jen, and daughter, Olivia, live in Naples, Florida.  Debbie’s nephew, Sammy Lomas, has PMS.  Debbie taught students in grades 3-8 for 25 years, from elementary to Critical Thinking – loved teaching.  She has a BS in Elementary Education from USF and a Master’s Degree in Educational Leadership from FGCU.

Ms. Susan Joinson, RN is a US Navy veteran having served in the US Navy Nurse Corps both active duty and reserves.   She has worked in her present position as Director of Nursing for the Corliss Institute, Inc over 13 years, providing case management and health services to persons with I/DD residing in group homes, supported apartments, and receiving Day Services. She is the current President of the Rhode Island Chapter of the Developmental Disabilities Nurses Association. Ms. Joinson has been a Special Olympic volunteer providing nursing supervision to athletes for over 17 years. Additionally, Ms. Joinson is mother to three adult children, Emily age 31 with Ring 22 type of Phelan-McDermid Syndrome, Laurie age 35 who has Cerebral Palsy & Lennox-Gastaut Syndrome, and Isaac age 39 active duty in the US Air Force.

Ricardo Lagos lives in Seattle with his wife Amy and son, Carlos. By trade, Ricardo is a computer programmer and currently enjoy working at Google in Seattle. His hobbies have included photography, rock climbing, and playing a few hands of poker now and then. Currently, Ricardo is fascinated by learning how to make his home more energy efficient and take advantage of renewable energy.  Since Carlos’ diagnosis of PMS over two years ago, Ricardo and his wife have been learning how to be better advocates for him and take advantage of all the services that are available to us.

Misa Terahira Lawrence has her Master’s Degree from the Harvard Graduate School of Education with a focus on Language and Literacy. She was a course director for Success Skills and instructor for English and Reading at the United States Air Force Preparatory School.  She lives in Cottage Grove, Minnesota with her husband, Daniel, and two children, Hiroki (age 8) and Taiyo (age 7).  With a background in education in the public, private and government sectors, she is adjunct faculty at Century College, teaching Academic Literacy, College Success Skills, and Reading.  When Hiroki was diagnosed with Phelan-McDermid Syndrome at age 1, Daniel and Misa knew that early intervention was critical and discovered professional au pairs as a viable option for child care and integrated therapy in the home and community.  Hiroki has had the privilege of 7 professional au pairs:  speech, occupational, and physical therapists who have helped him THRIVE!

Diane Linnehan lives in the Boston area with her husband, daughter Courtney(diagnosed with PMS at age 21), sons Matthew and Andrew. As Program Director, Diane has worked on the PMSF strategic plan, website and family support program. She is a member of the Parent Action Committee(PAC) and PMSIR data access review team. Before joining PMSF, Diane worked as a principal engineer and program development manager. Diane became a full-time advocate when Courtney suffered a severe regression in 1998. Diane created a person-centered program for Courtney that includes an accessory apartment. Diane completed parent consultant training, created a recreation program, and chaired the first walk for autism awareness in her community. She has also served as a board member, grant writer, and communications chair for a local nonprofit. Diane currently serves on the MA Statewide DDS Quality Council, Citizens Advisory Board and manages Courtney’s self-directed adult program.

Susan Lomas is the wife of Rich Lomas and the mother of Sam. She graduated from Boston College, with a BA in English/Education and taught Special Education in Vermont. After her teaching career, Sue worked 7 years for a software company, the last 3 years as Project Manager of various software installations in Europe; Vienna, Milan, Zurich, London. Since the birth of her child, she retired from the public sector and began her new career as a volunteer. These activities include: Co-chair of the School Advisory/Management Team of Oak Park School, Sarasota; member of Sarasota County School Board Legislative Committee; member of Sarasota County’s Exceptional Student Advisory Board; Partners in Policy graduate, State of Florida; President Naples Horseback Riding Therapy group, President Venice Challenger Baseball. The Lomas’ are also one of the original 25 families identified as having children affected by Phelan McDermid Syndrome Foundation (PMSF). Sue was elected President of PMSF in 2002, helped establish its non-profit status in 2003, Acting Executive Director 2015-2018, 2010-2013, Chair of Global Partners, board liaison for fundraising, legislative committees.

Dr. Ruth Ann Luna serves as Assistant Professor in the Department of Pathology & Immunology at Baylor College of Medicine (BCM) and Director of Medical Metagenomics in the Texas Children’s Microbiome Center (TCMC) at Texas Children’s Hospital. She also serves as director of the Clinical Metagenomics Fellowship as well as a member of the Institutional Review Board at BCM. Dr. Luna has completed microbiome-based projects in a variety of clinically relevant areas including gastrointestinal (IBS, ulcerative colitis, Clostridium difficile infection), pulmonary (cystic fibrosis, bronchopulmonary dysplasia, lung transplantation), and neurodevelopmental (autism, Rett Syndrome, Phelan-McDermid Syndrome) disorders. Dr. Luna’s work emphasizes a multi-omic approach to research- combining the microbiome, metabolome, and a variety of clinical data to better understand the underlying biology.

Wendy Miller graduated from Stephen F. Austin and holds a Special Education Teaching certificate. She has over 13 years’ experience working with special needs children with an emphasis teaching communication. She worked as Southlake Carroll’s Assistant Behavior Specialist and as a certified Crisis Prevention Institute (CPI) non-violent crisis intervention instructor providing training to district personnel. In 2015 Wendy partnered with Desiree’ to provide an array of services to families with special needs members.

Desiree’ Kesting-Noack graduated from Baylor University with a degree in Special Education. She is a Board Certified assistant Behavior Analyst and has over 15 years’ experience working with children and adults with special needs. She served as Southlake Carroll’s Behavior Specialist and teacher trainer for 11 years while also working as a Consultant for Central Texas Autism Center. In 2015 Desiree’ founded Noack Consulting, LLC partnering with Wendy Miler to provide an array of services to families with special needs members.

Megan O’Boyle is the parent of (soon-to-be) 18-year-old daughter with Phelan-McDermid Syndrome. She is the Principal Investigator for the Phelan-McDermid Syndrome Data Network (PMS_DN, PCORnet) and the Phelan-McDermid Syndrome International Registry (PMSIR) and a former PMSF Board member.

Amy O’Donnell has been living in Florida for over 15 years and is a proud mother of two boys, Justin who is 23 years old and Jacob who is 12 years old. Amy is a Data Analyst for a medical supply company and a volunteer. She has a degree in Graphic Design and has coordinated art therapy projects for many children with many different abilities. Amy has been a strong advocate for her PMS son, Jacob, who loves playing with his Matchbox cars, and Mr. Potato Head and watching YouTube videos.  Amy has been very involved with the PMS Foundation since Jacob’s diagnosis in 2010. She volunteers with the PMSF calendar as well as Global Genes Awareness and World Rare Disease Day projects online. Amy placed Jacob into a residential group home when he was 9 years old and he has benefited from this new environment greatly. His progress remains remarkable and he continues to show amazing potential with the amount of therapies he currently receives. This will be the second time Amy has shared her group home experience at the PMS conference during Residential Options / Creative Living Options Session.

Jen Randolph, PMS Mom,is originally from Northeast Jersey. She currently lives in Wilmington, Delaware with her husband Eric and their three beautiful children, Madisen, Jack and Sean. Jack (16 years old) is her PMS child and was the inspiration for the Phelan Lucky campaign. “He truly inspires us all and we are definitely feeling lucky that he has introduced us to our new extended family”. Jen has served as the PMSF Fundraising Chairperson for a number of years.  In this capacity, she has introduced families to creative and effective fundraising projects.

Dr. R. Curtis Rogers  is a Senior Clinical Geneticist employed by the Greenwood Genetic Center. He is board certified in clinical genetics and pediatrics, and has been active in the family support group for Phelan-McDermid Syndrome since its inception. He has examined many of the children with PMS who have attended the conferences and is helping in research to determine a genotype-phenotype correlation in PMS. He lives in Greenville, SC with his wife Debbie. They have 3 grown children and 6 grandchildren.

Kelley Thorson has lived in a rural town in St. Robert MO for 20 yrs. She lives with her husband Don and their 3 grown children. Ryan is 29 he has been very ill the last few years, Brandon is 26, and Kyle(24) has Phelan-McDermid Syndrome. The boys all live at home and are very supportive to the family with Kyle especially when he is having a bad day or night.  Kelley created Kyle’s Angels in 2012 and in 2015 created Kyle’s Angels Scholarship program, to assist new families or first-time attendees with hotel expenses during the PMSF Conference. Kelley and Don have had many fundraising efforts in order to benefit PMSF. They have traveled to many countries to attend PMS events in order to support and raise awareness for Phelan- McDermid Syndrome. This will be the second time Kelley has shared her Self-Directed Services experience at the PMS conference during Residential Options / Creative Living Options Session.

Megan Toole, PMS Mum, lives in Sydney, Australia. She is one of the Directors of PMSF Australia and the PMSF Region 8 Representative. However, her most rewarding job of all is being Mum to 7-year-old Olivia. Olivia was diagnosed with P-MS at 13 months of age. Megan believes her family is so blessed to be part of the P-MS community & could not have gone on this journey without the support of the foundation & the families. Megan and her lovely family have devoted many hours joyfully helping other families with children diagnosed with PMS in Region 8 and around the world.

Cathy Wall, is Nana to Ethan Wall and a nurse at Brigham & Women’s Hospital in Boston.  Ethan is her first and only grandchild, he will be three in August. Ethan was diagnosed with Phelan-McDermid Syndrome at age 5 months.  Cathy attended her first PMSF Family Conference in 2016 in Florida, where she got a lot of support from other grandparents and will pay it forward through sharing some of her experiences with coping with our family’s diagnosis, things that were difficult for us and things that have been helpful. Living in Boston with her husband, she has a close family of three adult sons and a 17-year-old daughter.  Cathy’s middle son is Ethan’s dad.  Cathy is a loving grandmother who will share ways she has found to cope with fears, anxiety and joys of being a PMS Nana.  Through sharing, Cathy hopes to form and enhance bonds of support with other families.

Melynda Williams received her Bachelor of Music Degree in music therapy from Sam Houston State University in Huntsville, TX.  She became a board-certified music therapist in 2001 and has worked as a public school music therapist for 16 years in the Dallas/Ft. Worth Metroplex Area.  She is currently employed with Carroll ISD in Southlake, TX and has been a music therapist in the district for 13 years.  Melynda also leads the music therapy program in Eagle Mountain-Saginaw ISD in Northern Ft. Worth.  In 2015, Melynda received her Neurologic Music Therapy Certification from the Academy of Neurologic Music Therapy at Colorado State University.

Rick Wood has been a practicing attorney in California for 40+ years.  He holds a Bachelor of Arts degree from the University of California, Santa Barbara, a Juris Doctor degree from Santa Clara University, and a Masters in Taxation from Golden Gate University.  His firm’s areas of practice include estate and tax planning, including special needs trusts, guardianships and conservatorships.  He has actively participated as a parent-advocate and presenter at numerous special needs and self determination conferences.  He currently serves on a stakeholders committee charged with implementing recent legislation to expand California’s self determination program.  He has served on the Mammoth Lakes Town Council from 1998 through 2006 and 2010 through 2014, including 6 years as Mammoth’s mayor.  He lives in Mammoth Lakes with his wife, Cheryl, and son, Davis, age 22.

Rick and Cheryl Wood are the parents of three children, including their youngest, Davis, who will be 23 years old in August.  Rick has been a practicing attorney in California for 40+ years and serves as an advocate for persons with disabilities in California. Cheryl is a real estate broker actively involved in real estate in Mammoth Lakes, California, and has written a book entitled “The 33rdChild: Plan B” which will soon be available on Amazon.com.  Together, they have addressed the challenges to marital and family relationships arising out of raising a child with PMS while juggling the demands of raising other children, and will share their approach to maintaining and nurturing lasting relationships.

PMSF | Phelan-McDermid Syndrome Foundation