2017 Conference Speakers

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2017 MWSF International Family Conference

Washington D.C. June 30 - July 1st, 2017

Conference Speakers

This is super exciting! Meet the speakers of the 2017 MWS Family Conference!

GENERAL SESSION SPEAKERS:

Click on name to see photo/bio.

Meredith Wilson, M.D. MWS: Overview and Updates

Meredith-WilsonMeredith Wilson is a consultant medical geneticist based in the Department of Clinical Genetics at Children’s Hospital Westmead, one of the two major pediatric hospitals in Sydney, New South Wales, Australia. After medical school in Adelaide, Meredith initially trained as a pediatrician in Sydney, then did further training in clinical genetics in Sydney and at the Murdoch Institute in Melbourne. She has been a consultant clinical geneticist since 1991 at the Children’s Hospital at Westmead and also at the Westmead adult hospital nearby. Meredith was Head of the Children’s Hospital Department of Clinical Genetics from 1998-2008 and head of the Westmead Hospital Adult Genetics service until this year, and was appointed as a Clinical Associate Professor in the University of Sydney in 2009. Meredith’s work involves many areas of clinical genetics, and includes consultations with families and patients of all ages, in prenatal, neonatal, pediatric and adult genetics areas. She has contributed to a number of scientific papers in regard to different genetic syndromes.

In the late 1990’s when David Mowat was also working at the Westmead Children’s Hospital, they together identified a group of children with very similar features, which they subsequently published in the Journal of Medical Genetics in 1998 as a “new” syndrome. That condition later became known as Mowat-Wilson syndrome, in acknowledgement of the fact that David and Meredith were the first to recognize and describe this important genetic syndrome.

David Mowat, , MBBS, MRCGP, DRACOG, FRACP Update on Recent MWS Medical Literature

David-MowatDr David Mowat is an experienced clinician and researcher with a primary interest in the diagnosis of genetic causes of rare disease/ syndrome recognition and translational medicine to improve clinical outcomes. He is an AI in genomic projects in different disease cohorts including rare Mendelian disorders, intellectual disability and adult/ pediatric, neuromuscular disorders. He is responsible for the recognition of an important syndromal cause of intellectual disability – Mowat-Wilson syndrome and has contributed to the discovery of a number of novel disease-causing genes. He is the Co-Head of the Centre of Clinical Genetics and Co-director of the Tuberous Sclerosis clinic and research collaboration at Sydney Children’s Hospital.

Katherine Lambertson Power to the People: Rethinking Registries for Research

_Katherine-Lambertson-Katherine Lambertson’s work at Genetic Alliance focuses on projects that empower men and women to engage in biomedical research. She oversees programs that connect communities and researchers at each stage of the complex world of drug development, from early development to registries and study recruitment. Katherine graduated from the University of Virginia in 2013, with a B.S. in Biochemistry and a B.A. in Linguistics.

Margaret L.P. Adam, MD The MWS Registry: Patient/Physician Partnership to Improve Care

Margaret-AdamMargaret L.P. Adam, MD, is an attending physician at Seattle Children’s Hospital and a professor in the Department of Pediatrics at the University of Washington School of Medicine. Dr. Adam’s clinical interests include the diagnosis and management of infants, children, and adolescents with a variety of genetic conditions.

Dr. Adam has a special interest in Mowat-Wilson syndrome, for which she has conducted clinical research in the past. She is currently involved as the primary geneticist in the Multidisciplinary Differences in Sex Development (DSD) clinic at Seattle Children’s Hospital and she recently joined the Multidisciplinary 22q11 Deletion syndrome clinic. She also provides genetic consultations for pregnant women through the Prenatal Diagnostic Center at the University of Washington. Her current clinical research projects include working as a dysmorphologist on the Autoimmune Diseases in Pregnancy Project with the Organization of Teratology Information Specialists (OTIS) and on the Collaboration to Establish the Prevalence of Fetal Alcohol Spectrum Disorders in association with the University of California, San Diego.

Jay L. Vivian, Ph.D. Recent Research Advances in MWS and Future Challenges

JayVivianDr. Vivian is a Research Associate Professor in the Department of Pathology and Laboratory Medicine at the University of Kansas Medical Center (KUMC). He also serves as the Scientific Director of KUMC’s Transgenic Facility and Gene Targeting Institutional Facility. Dr. Vivian’s research focuses on the use of pluripotent stem cells as genetic and developmental models, tools for genetic engineering of the mouse, and as reagents for regenerative medicine. His research team makes substantial use of pluripotent stem cells and genetically modified mice for modeling rare and undiagnosed neurodegenerative disorders.   Dr. Vivian received his Ph.D. from University of Texas-Houston M.D. Anderson Cancer Center in 1999, and received postdoctoral training at University of North Carolina at Chapel Hill. He has been at the University of Kansas Medical Center since 2004.

Merlin G. Butler, MD, Ph.D., FFACMG Recent Research Advances in MWS and Future Challenges

Merlin-ButlerI was raised on a small farm or ranch in the Sandhills of Nebraska (Stuart) and attended a rural one room school house from kindergarten to eighth grade, then graduated from Stuart High School in a class of 17 students in 1970. I attended Chadron State College (CSC) with scholarship support and graduated in 1974 (B.A.) and 1975 (B.S.). I majored in biology (pre-med). I received my M.D. from the University of Nebraska in 1978, M.S. from the University of Nebraska – Lincoln in 1980 and Ph.D. in Medical Genetics and postgraduate training at Indiana University. I was certified in Clinical Genetics and Clinical Cytogenetics by the American Board of Medical Genetics in 1984 and became a Founding Fellow of the American College of Medical Genetics in 1993. I have been fortunate in my career and have held several academic positions at Indiana University, Vanderbilt University, Children’s Mercy Hospital and University of Missouri – Kansas City and currently Director of Research and Genetics, Medical Director of the KUMC Genetics Clinic and Professor of Psychiatry, Behavioral Sciences and Pediatrics at the University of Kansas Medical Center. I received the Distinguished Service Award from Chadron State College in 1986, received the Distinguished Alumni Award from Indiana University in 2007 and was recipient of the Chancellor’s Club Research Award from the University of Kansas in 2016. I have been an active member of several professional organizations, NIH grant study sections, editorial boards of journals, and have conducted extramurally funded research on Prader-Willi syndrome and obesity-related disorders, alcoholism, the genetics of autism and intellectual disabilities and delineation of rare and uncommon genetic disorders such as Mowat-Wilson syndrome. I have an active medical practice in clinical genetics and have been selected by “Consumers Research Council of America, Guide to America’s Top Physicians”, “Best Doctors in America” and “Castle Connelly Top Doctors”. I have published over 500 peer-reviewed research articles, multiple book chapters and authored two textbooks:         1) Management of Prader-Willi Syndrome and 2) Genetics of Developmental Disabilities.

Justine Niemczyk, Psychotherapist Incontinence in MWS - First Study Results

Justine-NiemczykJustine Niemczyk is a child and adolescent psychotherapist and research associate from Homburg, Germany. She received a diploma in psychology from Saarland University (Saarbruecken, Germany) in 2009 and completed a professional training with the license to practice child and adolescent psychotherapy in 2016. Since 2009 she works as a clinical psychologist and research associate at the Department of Child and Adolescent Psychiatry, Saarland University Hospital in Homburg (Head of Department: Prof. A. von Gontard). Ms. Niemczyk is part of the multiprofessional team of the specialized outpatient clinic for incontinence, in which children and adolescents are treated according to current international guidelines. In addition, she supervises the clinic’s research projects with focusing on incontinence in children and adolescents, psychiatric disorders (e. g. autism, ADHD), genetic syndromes and intellectual disability.

Catharina Wagner, M.D. Incontinence in MWS - First Study Results

Catharina-WagnerCatharina Wagner is a medical doctor from Homburg, Germany. She completed her medical training at Saarland University, Homburg, Germany in 2013 with a medical license. Since 2014, she works as a junior doctor at the Department of Child and Adolescent Psychiatry, Saarland University Hospital in Homburg. Next to her medical and therapeutic work at the psychiatric inpatient ward for adolescents, she is also part of the research team of Professor Alexander von Gontard with research interests in incontinence in children and adolescents, psychiatric disorders, genetic syndromes and intellectual disability.

Kathlynn Sell, B.M. in Music Therapy Using Music Therapy for Delayed Speech and Language Development

Kathlynn-SellKathlynn Sell is a recent graduate from the Berklee College of Music in Boston with a degree in Music Therapy and a minor in Psychology. She has a passion for using music to help other people, and hopes to develop research and protocol for Music Therapy with Mowat-Wilson Syndrome and other associated disorders. Kathlynn is on the student board for the New England Region of the American Music Therapy Association for the upcoming year. She recently returned from a service trip to Puerto Rico to bring music therapy to medical facilities on the island. Kathlynn will be completing a Music Therapy internship at the Kennedy Day School and with Up Beat Music Therapy in Boston, and hopes to become a Board-Certified Music Therapist following completion. She also hopes to complete certification in Neurologic Music Therapy and NICU music therapy.

WORKSHOP LEADERS:

Click on name to see photo/bio.

Kim Singleton, MS, CCC-SLP Augmentative and Alternative Communication

Kim-SingletonAugmentative and Alternative Communication – What? Who? Where? When? Why? and How?

Kim Singleton, MS, CCC-SLP is the Director of Assistive Technology Programs at the Institute on Disabilities at Temple University. She responsible for statewide programs aimed at making technology available and useful to people with disabilities in Pennsylvania. Kim is also a speech-language pathologist specializing in children and adults with complex communication needs, creatively enhancing lives with emerging technology. She has extensive experience integrating augmentative and alternative communication solutions into a child’s world.

Christy Evanko, BCBA, LBA The Science of Behavior - What Can It Do for Me?

Christy-EvankoChristy Evanko, BCBA, LBA took the non-traditional route to becoming a behavior analyst after her son was diagnosed with autism. She has a Masters in Business Administration with a concentration in Marketing from UNC-Chapel Hill and a graduate certificate in Behavior Analysis from the University of North Texas. She is the owner of Snowflakes ABA, consults with a variety of organizations, and is active in her community.   She is a past President for the Virginia Association for Behavior Analysis, Treasurer for the Dissemination of Behavior Analysis Special Interest Group for the Association for Behavior Analysis International, and had served as Secretary on the Special Education Advisory Committee and on the working group to develop the regulations for the licensure of behavior analysts through the Board of Medicine. She lives in Mechanicsville, Virginia with her husband and three children.

John M. Schreiber, MD Seizures and Epilepsy in Mowat-Wilson Syndrome

John-SchreiberDr. John M. Schreiber is a Child Neurologist, Neurophysiologist, and Epileptologist at Children’s National Health System and Pediatric Specialists of Virginia. He completed Pediatrics and Child Neurology training at Children’s National Health System in 2011, and an Epilepsy and Clinical Neurophysiology fellowship at the National Institutes of Health in 2013. His primary research interests are in the evaluation and management of refractory epilepsy, specifically in rare genetically-mediated epilepsies.

Cindy Dougherty, B.A., Educational Consultant Your Child CAN Learn - Foundations for Successful Learning

Cindy-DoughertyCindy Dougherty-Mrotek has been a special education teacher for 15 years. She has a variety of experience, but focuses on teaching children who non-verbal or use alternative communication systems. She has spent the last six years successfully home schooling a young lady with Mowat-Wilson Syndrome. During these six years, she taught this girl how to read, write, and successfully use technology to access all areas of the curriculum. Cindy assumes intelligence in all of her students and believes all children can learn.

Kimberly Jachim-Mellenthin, Learning Behavior Specialist, Parent Advocate Be the Changes You Want to See; Advocacy in School and Beyond

Kimberly-Jachim-MellenthinMy name is Kimberly Jachim-Mellenthin. I have had the honor of being a mother and step-mother to three wonderful children, all who have faced unique challenges and obstacles. I began my advocacy work for my children and others with disabilities 20 years ago when my daughter was two years old, fighting for professionals to recognize her potential and provide her the care and services she needed to achieve her full potential. This was never easy and often not successful, but I never gave up. Professionally I worked as a family advocate for five years with several agencies and represented parents on The Illinois State Advisory Committee on the unmet needs of students receiving special education services. I am a certified elementary education teacher, with endorsements in science, social studies, and language arts, and a certified special education teacher for all student with special education needs, ages 3 to 22. I worked as a Best Buddies Coordinator at a Chicago Public High School and as a Next Steps Leader focusing on transition in the south suburbs of Chicago. Currently I attend the University of Illinois, seeking a Certificate in Assistive Technology, a Learning Behavioral Specialist II Certification, and a MA in Education. I work as a special education teacher, servicing children with a variety of educational needs from learning disabilities to Autism Spectrum Disorder that are non-verbal. For the past six years, I have lead a home school team of professionals to educate my daughter and started The Community of Exceptional Artists, and Paper Angels, a business venture for my daughter. The Community of Exceptional Artists works to provide art instruction and financial opportunities in the arts to people with moderate to severe disabilities. Over the past 20 years I have attended many professional trainings, but I have learned the most from my children, including my daughter with MWS, and the many families and children I have had the pleasure of working with.

Jade Bender-Burnett, PT Mowat-Wilson Syndrome and Mobility

Jade Bender-Burnett PT, DPT, NCS is a practicing therapist at NeuroPT and adjunct faculty at Marymount University. She also continues to treat patients in the acute rehabilitation settings at Virginia Hospital Center and Medstar National Rehabilitation Hospital. Jade received her Master’s in Physical Therapy from University of Evansville in 2006 and doctorate of physical therapy from Marymount University in 2009. She is an APTA Board Certified Specialist in Neurological Physical Therapy and an active member of the American Physical Therapy Association. Her experience includes inpatient rehabilitation for people suffering from stroke, traumatic brain injury, spinal cord injury, multiple sclerosis, Parkinson’s disease, vestibular rehabilitation, amputation, total joint replacements, and multitrauma. Jade’s areas of expertise are neurological impairments, seating and mobility, and orthotic prescription. She currently lives in Falls Church, Virginia, with her husband, Andy, and son, Leo.

Belinda Dickie, MD, Ph.D. Strategies of Bowel Management in the Mowat-Wilson Patient

Belinda-DickieBelinda Dickie is a pediatric surgeon at Boston Children’s Hospital and is the co-director of the Colorectal Center and Pelvic Malformation Center. She obtained her medical degree at the University of Toronto, Ontario Canada and completed her general surgery residency and PhD at the University of Alberta, Alberta Canada. She continued her education by completing a fellowship in advanced minimally invasive surgery at the University of Alberta. Upon relocating to the United States, she continued her training in pediatric colorectal surgery at Cincinnati Children’s and Vascular Malformations and pediatric surgery at the University of Florida.

Dr. Dickie’s focus includes pediatric colorectal surgery (in particular anorectal malformations (cloacas) and reconstructive surgery, Hirschsprung disease, inflammatory bowel disease, and motility disorders). She is one of the leaders in using minimally invasive surgery and robotics to treat these conditions. She has participated in surgeries and taught courses around the world on advanced reconstructive colorectal and pelvic surgery. Her second focus is on vascular anomalies and the genetics of these disorders.

Outside of the Colorectal Center, Belinda is a dedicated mom of two boys and most of her time outside of work is at basketball, baseball and soccer games.

Amy Hosa, Parent Gannet’s Journey: Planning and Creating a Legacy for Life

Amy-HosaAmy Hosa lives in San Francisco, CA and is the mother of Gannet, age 35. She is a graphic designer and illustrator, and recently retired as the exhibit designer for the San Francisco Maritime Museum. Currently, Amy is writing an illustrated memoir about her life and times while raising “puzzle baby” Gannet into adulthood. Look for samples at www.amyhosa.com. For community service, Amy has also been an advocate for persons with disabilities: served on the Board of the Community Alliance for Special Education for over 10 years, sat on numerous committees bringing disability rights issues to the State of California Developmental Disabilities Board and Legislators, reviewed curriculum guidelines for deaf/blind education, has given many workshops, and was on the founder’s committee that developed a Camphill Community for adults with disabilities in California.

Alex Gallego Gannet’s Journey: Planning and Creating a Legacy for Life

Alex-GallegoAlex Gallego is a Service Coordinator for Casa Allegra Community Services in San Francisco, as well as, direct support and household manager for his client Gannet Hosa-Betonte. He coordinates and oversees Gannet’s day and overnight program, all medical issues, staff training and hiring, financial budgeting, and he also represents Gannet in meetings with the agencies working for or funding Gannet’s program and independent living.

He has previously worked as a Community Integration Specialist for the Arc of San Francisco. At the Arc his responsibilities for his clients included work coaching and training, educational support, individual and group artistic activities, and social integration through client volunteering.

Alex has a B.A. in musicology and a B.S. in Kinesiology with an emphasis on Neuro Motor Control.

International Family Conference

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