Agenda

Session Descriptions Coming Soon

Here is the agenda from 2022 to give you a feel for what to expect...

Friday, October 28, 2022

9:30 AM to 10:30 AM

Working Towards Establishing Postnatal Malleability in WSS

Tinna Reynisdottir, moderated by Krishnendu Khan

Session description: Outlining the ongoing project of establishing whether Wiedemann-Steiner syndrome demonstrates postnatal malleability using an innovative mouse model.

Tinna Reynisdottir is PhD student with Dr. Bjornsson at the University of Iceland. Tinna previously graduated with a master’s degree in biomedical science and has one paper demonstrating that Missense Variants in WSS are overrepresented in the CXXC-domain of KMT2A, published in PLOS genetics earlier this year.

10:45 AM to 11:45 AM

Neurodevelopmental Profile of WSS: Preliminary Findings and Future Directions

Dr. Jacqueline Harris and Dr. Rowena Ng, moderated by Krystal Thurman

Session Description: This talk will review the known neurodevelopmental profile of Wiedemann-Steiner Syndrome (WSS), gaps in knowledge, and directions in future research and clinical therapeutic applications. The role of cognitive and neurophysiologic studies in rare disease phenotyping and development of clinical treatments will be discussed. We will

also review preliminary findings from our recent studies on the cognitive and

neurobehavioral phenotype of WSS, implications on interventions, and subsequent research aims.

Dr. Rowena Ng is a clinical neuropsychologist at the Kennedy Krieger Institute and an assistant professor of Psychiatry and Behavioral Sciences at Johns Hopkins Medicine. Her clinical interests include providing assessment services for children and adolescents with rare genetic/congenital conditions, including Mendelian disorders of epigenetic machinery such as Wiedemann-Steiner Syndrome. Her research interests focus on integrating multidisciplinary methods in characterizing social and cognitive phenotypes associated with rare neurogenetic diseases, in efforts to identify potential outcome markers for targeted clinical trials and optimize early clinical/behavioral management.

Dr. Jacqueline Harris is a Child Neurologist and Neurodevelopmental Pediatrician and an Assistant Professor in the Departments of Pediatrics, Neurology and Genetics at The Johns Hopkins University School of Medicine and Kennedy Krieger Institute. Dr. Harris received her BA with Honors in English Language and Literature and Neurobiology from The University of Chicago. She earned an MD from Cleveland Clinic Lerner College of Medicine of Case Western Reserve University and an MS in Clinical Research Scholars Program from Case Western Reserve University. She did her pediatrics residency at UT Southwestern Medical Center in Dallas and did her child neurology and neurodevelopmental disabilities training at Kennedy Krieger Institute and Johns Hopkins Medical School where she stayed on as faculty. She currently cares for hundreds of patients with epigenetic disorders with neurologic and/or cognitive manifestations in clinics at both Kennedy Krieger Institute and Johns Hopkins Medical Institution including patients with Wiedemann-Steiner syndrome, Kabuki syndrome, Rubinstein-Taybi syndrome, Angelman syndrome, Kleefstra syndrome, Sotos syndrome, and KAT6A disorder. Her research focuses on epigenetic causes of neurodevelopmental disorders - particularly intellectual disability - and how specific epigenetic changes lead to specific neuroanatomic, neurophysiologic and cognitive phenotypes. She is also interested in developing specific cognitive profiles in genetic syndromes as potential outcome measures for clinical trials and running these trials. She is currently running the only active clinical trial in Kabuki syndrome and is starting other trials in other Mendelian disorders of the epigenetic machinery in the very near future. Dr. Harris’s research funding includes a National Institutes of Health K23 Career Development Award for her work in Kabuki syndrome, as well as funding from the Kabuki Syndrome Foundation for her work in Kabuki Syndrome, from the Rubinstein-Taybi Syndrome Children’s Foundation for her work in Rubinstein-Taybi syndrome, from the Sekel-Breidenstein Fund for her work in Luscan-Lumish syndrome, and from the KAT6A Foundation for her work in KAT6A (Arboleda-Tham) syndrome.

1:00 PM to 2:00 PM

Mosaicism Resulting in Inheritance of WSS

Dr. Nadia Falah, moderated by Christina O’Keeffe

Session Description: Dr. Falah will discuss the genetic theory of mosaicism and its application to WSS, as well as its significance and upcoming projects.

Dr. Nadia Falah is a Medical Biochemical Genetics Fellow at Duke University. She is board-certified in medical genetics and genomics and was previously an assistant professor of pediatric genetics and metabolism at West Virginia University. Dr. Falah is an advocate for rare diseases and a member of the West Virginia Advisory Council on Rare Disease. Dr. Falah has collaborated with the WSS society on several projects, including the publication of a poster about the mosaic forms of WSS and the presentation of the WSS registry in a paper that has been submitted to the orphanet journal of rare disease and is still being considered for publication. Dr. Falah has peer-reviewed studies in genetics and rare disorders.

2:15 PM to 3:00 PM

Community Discussion- WSS Warriors and Siblings

Moderated by Kirsten Stuart

Session Description: Join other WSS community members in a discussion about WSS warriors and their siblings. This community discussion will be an informal discussion.

Kirsten Stuart lives in Santa Barbara California with her husband and two teenagers. Her son Niko is 15 and was diagnosed at age eight after a long search for answers. Ms. Stuart worked for 15 years as a speech and language therapist in private practice. She has since left the field to work in the non-profit sector helping to raise funds for families battling pediatric cancer. Ms. Stuart has an 18-year-old daughter whose life has been deeply affected by her younger brother’s diagnosis. Raising children with dramatically different needs has proven challenging for Kirsten and she is eager to share her story, listen to the journey of other WSS families, and learn from everyone in the room.

2:15 PM to 3:00 PM

Community Discussion- The Early Years

Moderated by Maria Cummings

Session Description: Join other WSS community members in a discussion about the early years with WSS warriors. Ask questions, share ideas, and support each other’s journey.

After college, Maria started a career in finance working for Wilson's Leather corporate offices and then Ernst & Young. After starting a family, she switched gears and worked in elementary education for a combined 10 years in a reading and math support program. Maria is currently a stay-at-home mom.

Her son Dylan is 14 and was diagnosed with WSS at age six. They have navigated the unknowns, the therapies, trials and errors, first days of preschool/school, countless doctor visits, etcetera that come with parenting a child with WSS. She looks forward to sharing her experiences with you and hearing yours as well!

3:15 PM to 4:00 PM

Medication: Risks and Benefits: Decision Making Around Neuropsychiatric Medications

Clare Tessman, Moderated by Sara Shea

Session Description: Join Clare Tessman as she discusses the risks and benefits of medication to treat WSS warriors. She will highlight decision making around neuropsychiatric medications. WSS community members can ask questions and share personal experiences with medications.

Clare Tessman is an ANCC Board Certified Psychiatric Mental Health Nurse Practitioner in the state of Illinois and holds a controlled substance license (IL and DEAA). She is a Doctor of Nurse Practice (DNP) student and has completed post-graduate studies in evidence-based patient- and family-centered care for SMI, Epilepsy, Autism, PTSD, TBI, genetic syndromes and rare diseases. Clare is currently working in private practice as a cooperative concierge private nurse practitioner with AlanTonyAmberg.com where she provides comprehensive psychiatric care with an eye to holistic health.

3:15 PM to 4:00 PM

Community Discussion- Puberty 101

Moderated by Annabel Corbett

Session Description: Join other WSS community members in a discussion about the puberty in WSS warriors. This session will be led by Annabel Corbett, mother of a WSS Warrior who has experienced puberty.

Annabel Corbett is a WSS Foundation Board Member. She lives in London, England, with her husband and two children. Her son was diagnosed with WSS in 2015 when he was 8 years old after many years of tests, investigations and huge uncertainty over his future. Annabel is determined to spread awareness of WSS to ensure other families receive an early diagnosis and have access to the support and knowledge of the growing WSS community.

In her “other” life, Annabel has a BA in Law from the University of London, then qualified as a Barrister specialising in criminal law for some 15 years before her current appointment as a District Judge (Magistrates’ Court).

4:15 PM to 5:00 PM

Community Discussion – Meeting for Regional Ambassadors

Moderated by Annabel Corbett

Session Title: Regional Ambassadors Meeting

Session Description: Regional Ambassadors are encouraged to participate in this session. Discussions will take place around local events, ideas for future activities, and collaboration opportunities. Regional Ambassadors will have an opportunity to connect and chat!

4:15 PM to 5:00 PM

Community Discussion- Eating, Sleeping and Dental Challenges (10 & Under)

Moderated by Nicole Reeves

Session Description: Join other WSS community members in a discussion about WSS Warriors with eating, sleeping, and teeth challenges. This community group discussion will be led by WSS community member, Nicole Reeves.

Nicole is mother to a ten-year-old girl who was diagnosed with WSS at the age of five, right before going into kindergarten. She is a wife and mother to two other little girls. She lives in Minnesota where she is a nurse and homemaker. This is her family’s second in-person conference. She is looking forward to meeting new people while at this year’s conference.

4:15 PM to 5:00 PM

Community Discussion- Eating, Sleeping and Dental Challenges (11 & Up)

Moderated by Libby Woolford

Libby, her husband, and two children reside in Sacramento, CA. Her daughter was diagnosed with WSS in March of 2014 at the age of 20 months via whole exome sequencing. Since that time, she and her family have been committed to learning more about WSS, supporting those affected by WSS and rare diseases, and navigating processes and resources to encourage research of WSS to ultimately benefit the lives of those affected by WSS.

She graduated from Loyola Marymount University with a degree in Liberal Arts and a multiple subject teaching credential. Formerly an elementary and middle school teacher, Libby has been a realtor in Sacramento since 2006. She also holds a Governor appointed seat on California’s Interagency Coordinating Council on Early Intervention.

Saturday, October 29, 2022

9:15 AM to 10:15 AM

WSS Data Collection Program: It's More than the Numbers; It's our Lived

Experiences

Megan O’Boyle, moderated by Christina O’Keeffe with guest appearances by: Jillian Ahlgrim, Ashely McGuinn, Lisa & Thor Misko, Stacie Arnell, Ned & Allison Barnes, and Gauravi Deshpande

Session Description: Join us for an informative session on the WSS Data Collection Program (DCP), which launched September 1 in partnership with non-profit organization RARE-X. Over the past two months, the WSS community responded in a big way to enroll and complete surveys that provide CRITICAL data for research and the development of treatments. Like many rare diseases, families are the EXPERTS, and it’s important to share these lived experiences to raise awareness and increase knowledge for medical professionals. The story of WSS can't be told without YOU. This session features presentations from RARE-X on the latest updates with the DCP and individual stories from WSS families to highlight certain symptoms in the data findings, representing nearly 100 patients enrolled to date. Get ready for fun and inspiration!

Megan O’Boyle, BA is the Principal Investigator for the Phelan-McDermid Syndrome Data Network (PMS_DN, PCORnet) and the Phelan-McDermid Syndrome International Registry (PMSIR). She serves as a patient advisor on the NIH Council of Councils, the Simon’s Foundation – SPARK project, is a former advisor to the NCATS Advisory Council, and several PCORI awards including FasterCures and Academy Health. She advocates for data sharing, collaborating with other advocacy groups, sharing resources and streamlining IRB practices and policies. As the Patient Engagement Lead for RARE-X she brings her decade of experience in advocacy to help patient groups develop and govern their new Data Collection Efforts within RARE-X. Megan knows firsthand about the challenges that patients and patient communities face collecting and sharing their data. She is passionate about the need for the rare disease community as a whole to collect standardized data (ask the same questions) to allow for cross-disease research. She believes that having data collection developed and maintained at NO COST to the patients and patient communities is imperative to removing the barriers to finding treatments and cures for rare disease. Keeping the patient at the center of all decisions and efforts of RARE-X is Megan’s priority and mission.

10:30 AM to 11:45 AM

WSS Parents' Voices: What You Have Told Us About Your Experiences of

Diagnosis, Your Children's Behavior, and their Social Vulnerability

Dr. Camilla Elphick, Dr. Wendy Jones, Professor Nicola Yuill, Jessica Marshall,

Dr. Jane Waite & Dr Alison Davies, moderated by Annabel Corbett

Session Description: The WSS Psychology Lab (Twitter: @WSSpsychlab) was set up in 2019 to address the pressing need for psychological research into Wiedemann-Steiner Syndrome. The lab has had three dedicated members since the start: Dr Camilla Elphick (The Open University), who was first drawn to conduct this research as she has a beloved family member with WSS; Prof Nicola Yuill (The University of Sussex), who researches primarily in autism but became interested in WSS through Camilla, and now guides WSS student research projects and leads ongoing research in the lab; and Jessica Marshall (University of York), who won a scholarship to lead the first WSS research by the lab. The WSS psychology Lab members also work with other leading researchers including Dr Jane Waite (Aston University), who researches rare genetic syndromes, autism and intellectual disabilities; and Dr Wendy Jones (Great Ormond Street Hospital), who first genetically identified WSS and is a Consultant in Clinical Genetics.

In this session, the WSS Psychology Lab team will present three talks, summarizing their research to date. Prof Nicola Yuill will talk about our work on a Wiedemann-Steiner ‘Behavioral Phenotype’, which summarizes the characteristics that typify WSS. Identifying a behavioral phenotype has the potential to help children to be diagnosed and get the support they need earlier. Jessica Marshall will talk about ‘social vulnerability’ in WSS children, which compares social risks in WSS children with children with autism. Understanding social vulnerability can help adult carers to mitigate, and make others aware of, social vulnerability. Dr Camilla Elphick will discuss the experiences of parents whose child receives a WSS diagnosis. From this research, we provide considerations for clinicians that aim to improve the process.

The presenters will be online via video link during the talks, so that conference participants can ask them questions via an online chat followed by a live Q and A session. The talks will be made available via YouTube following the conference, so that they can be accessed and shared widely.

Prof Nicola Yuill is a Professor of Developmental Psychology at the University of Sussex. She heads @chatlabuk, researching technology to support children's collaboration and social interaction and is co-director of @acornsussex, the Autism Community Research Network Sussex (https://profiles.sussex.ac.uk/p3045-nicola-yuill).

Jessica Marshall is a postgraduate student and a member of the WSS Psychology Lab. She won a Junior Research Assistant scholarship to investigate parents’ perspectives of WSS. She has gone on to research social vulnerability for her undergraduate dissertation and is keen to contribute to future WSS research.

Dr. Camilla Elphick is a lecturer in psychology at the Open University where she produces online materials for teaching psychological phenomena, promotes psychology research and teaching via social media; and conducts a range of innovative research (http://www.open.ac.uk/people/ceje3). She became interested in WSS as she is related to a child with WSS and initiated the WSS Psychology Lab.

Dr. Alison Davies is a Research Associate at the Open University where she supports research activity in the School of Psychology and the School of Health, Wellbeing and Social Care. Prompted by her own experience of being the mother of a son with ADHD, her research has included parents’ experiences of having a child with ADHD and, more recently, fathers’ relationships with their disabled children. She is also a psychotherapist.

Dr. Jane Waite is a Senior Lecturer and Clinical Psychologist at Aston University. Jane completed her PhD in 2012, which focused on the behavioural characteristics of people with Rubinstein-Taybi syndrome, prior to developing a research programme to further understand the needs of people with a range of rare genetic syndromes. Jane’s current research examines factors that influence outcomes across and within genetic syndromes, with a specific focus on anxiety, behaviours the challenge, emotional regulation and pain associated with health conditions. Jane is also Co-Lead for the Cerebra Network for Neurodevelopmental Disorders, which is a collaborative network of researchers that aims to improve knowledge of genetic syndromes to enhance outcomes for children with these conditions (https://www.cerebranetwork.com/)

Dr. Wendy Jones works in general Clinical Genetics at Great Ormond Street Hospital for Children. She has a specialist interest in Genomics, chromatin disorders including Wiedemann-Steiner syndrome, and disorders associated with hypertrichosis. Dr Jones received her MBBS from University College London, UK. After completing core medical training in London she undertook her training in Clinical Genetics at St George’s Hospital, London, and Great Ormond Street Hospital for Children. During her training, Dr Jones carried out a PhD at the University of Cambridge. Based at the Wellcome Trust Sanger Institute she researched in Wiedemann-Steiner syndrome and disorders associated with hypertrichosis. In addition, Dr Jones carried out some of the core genomic analysis for the Deciphering Developmental Disorders Study, a nationwide study into the genetic cause of developmental disorders.

1:00 PM to 2:00 PM

Therapeutic Development for WSS and Related Disorders: Promise and Pitfalls

Dr. Hans Bjornsson, moderated by Libby Woolford

Session Description: A Brief Overview of Possibilities of Therapeutic Development for WSS

Dr. Bjornsson is a professor of translational medicine and pediatrics at the University of Iceland. He is also an associate professor of genetics at the Johns Hopkins University in Baltimore. He founded the first Epigenetics and Chromatin Clinic at Hopkins in 2012 and has significant clinical and research experiences with WSS.

2:10 PM-3:10 PM

Practical Functional Analysis- The ABA Approach That Finally Worked

Lucy Jones, Moderated by Diego Mahecha

Session Description: "When every other ABA treatment approach else fell short of what my WSS client actually needed, Practical Functional Analysis and Skills Based Treatment gave us a flexible, practical approach that could navigate challenging behavior that crossed multiple functions as well as the WSS-related anxiety attacks. Combined with Acceptance and Commitment Training, we left behind fruitless efforts to nail down a single function for every behavior and developed tools that would work with the natural flow of life with WSS and ASD." BCBA Lucy Kay Jones will share her experience in searching for a solution for severe behavior related to ASD/WSS, the key components of PFA that made it successful, and how to talk to your ABA team about this treatment as a solution for your child.

Lucy Kay Jones spent her childhood in Madison, MS; she received a B.A. in Religious Studies from Rhodes College in Memphis, TN, in 2014. In 2016, she enrolled at The University of Texas in Austin and went on to achieve her Master of Education in Early Childhood Special Education. Starting as an RBT at Blue Sky in July 2018, Lucy Kay soon completed her required experience hours and became a fully certified and licensed BCBA in November of 2019. Lucy Kay's passion for working with special needs individuals is rooted in her formative years spent at Camp Bratton-Green's special session program, totaling 14 years of experience with special needs populations in a variety of settings. While she works across age groups in the clinic, Lucy Kay has a particular affinity for working with elementary to teenaged learners with severe challenging behavior. Lucy lives in Jackson with her husband, daughter, Maggie (age 7), and son, Wyatt (age 2). Outside of work, Lucy enjoys board games, sewing, kayaking, Marvel superhero movies, and the Harry Potter books.

3:15 PM to 4:00 PM

Growth Hormone in Genetic Syndromes: What we Know so Far

Dr. Tala Dajani, moderated by Sara Shea

Session Description: Join Dr. Tala Dajani, pediatric and internal medicine trained clinician educator, and others from the WSS community in a rich discussion about growth hormones in children with genetic syndromes.

As a pediatric and internal medicine trained clinician educator with a passion for empowering families and optimizing well-being, Dr. Tala Dajani enjoys caring for children at Mission Children’s Hospital in Asheville, NC. She was a clinical educator at ATSU-SOMA from 2017-2021. She obtained her medical degree from the University of Texas Health Science Center in Houston in 1998, pediatric endocrinology fellowship training from Phoenix Children’s Hospital in 2005, and a Master’s in Public Health from the University of Arizona in 2005. She cared for children as an endocrinology faculty member at Phoenix Children’s Hospital (PCH) from 2005 to 2010. At PCH, she served as the founding medical director of the diabetes center and lipid clinic, leading the program to the first national accreditation and center of excellence status. Dr. Dajani operated and cared for patients at Pediatric Endocrinology of Phoenix from 2010 to 2017. She furthered her expertise and experience in the endocrine care of the survivor of childhood cancer, special needs population, transgender and those living with cystic fibrosis. In 2009, 2010, 2012, and 2015, her peers voted Dr. Dajani as a National Top Doctor. 2017-2021, Dr. Dajani participated in the planning and implementation the Osteopathic Wellness Lifestyle and Culinary Experiential Curriculum at the School of Osteopathic Medicine in Arizona. She cared exclusively for special children at Children’s Rehabilitative Services endocrine clinic weekly (2005-2021) and has been blessed with a special son, herself. Dr. Dajani enjoys playing viola, teaching yoga, exploring nature, and practicing mindfulness. Dr. Dajani is Reiki Master and believes in the body, mind, and spirit approach to healing.

3:15 PM to 4:00 PM

Anxiety and Stress

Lucy Jones, moderated by Krystal Thurman

Session Description: In this community session, participants will discuss anxiety and stress among WSS warriors. This is a chance to engage with an ABA professional who has extensive experience working with children with anxiety and stress disorders. Participants will have the opportunity to discuss experiences and lessons learned.

4:10 PM to 4:40 PM

Session Title: Accelerating Research Readiness for WSS – What’s Next?

Karmen Trzupek, Moderated by Christina O’Keeffe

Session Description: Since its founding in 2016, the WSS Foundation has initiated several critical research initiatives to better understand the impacts of the gene mutation that causes WSS. These tools include creating a mouse model, participating in patient registries, and exploring natural history studies or cell lines. During this time, the field of genetics has also evolved rapidly with new innovation, and various industry partners are prioritizing more on rare diseases. A strategy is needed for guiding the next investments by the WSS Foundation that can accelerate the new research required for WSS to achieve drug development and treatments more quickly. Please join us for an exciting announcement on a partnership with RARE-X, and the benefits for our patient community!

Karmen Trzupek first learned about RARE-X while serving on the Board of Directors for the rare patient advocacy organization, the Usher Syndrome Coalition. The organization had spent several years exploring registry platforms but found they were either too expensive or required patients to surrender the rights to their health data and permit the platform owners to monetize the information.

“RARE-X solved all of these problems and pushed us to rethink the whole model,” said Trzupek. “We should not be thinking about monetizing patients in partnership with industry. Instead, advocacy organizations should think about their end goal. If the goal is the development of meaningful therapies for the patient community, then let’s work together to achieve that goal. And let’s do it arm-in-arm with other similar disease groups and patient advocacy organizations to move forward together.”

Trzupek was so impressed with RARE-X’s approach that when she later saw the organization was seeking someone to head scientific programs she saw it as an opportunity to build on her more than 20 years of experience in rare genetic disorders.

In her new role as Senior Director of Scientific Programs for RARE-X, Trzupek will be responsible for guiding RARE-X’s programs related to the collection, storage, sharing, and analysis of patient-reported, clinical, and molecular genetic data.

“The vast majority of rare diseases are genetic. A common question that patient advocacy organizations ask is, “Can we upload our genetic data? Is that genetic data going to be curated?” said Trzupek. “This is a key objective: determining how we’re going to collect genetic data, how we will curate it in a useful way, and then how we are going to make that data available for analysis.”

The other central charge for Trzupek will be to lead product and scientific strategy for RARE-X. This will involve bringing together pharmaceutical and other industry partners with patient groups and scientific advisors to address gaps in the research readiness roadmap.

One example of a collaborative project is a study RARE-X is working on in partnership with Children’s Hospital Colorado and four rare disease advocacy groups, Project 8p, Ring14 USA, SLC6A1 Connect and STXBP1 Foundation. In this study, a subset of patients across these four rare neurodevelopmental diseases enrolled in the RARE-X platform are also evaluated onsite by a clinical research team. The resulting dataset includes clinical, molecular, and patient-reported outcome data critical to advancing the research aims of each of those four disease groups.

Previously, Trzupek served as the Director of Clinical Trial Services at InformedDNA, a telehealth genomics services company. There she created partnerships between biotech companies, patient advocacy groups, and academic and community clinics to help patients with genetic diseases navigate clinical trial eligibility and enrollment.

“Karmen brings a depth of knowledge and experience working with rare disease patients and their families as a genetic counselor, and she also has a track record of forging partnerships between biotech sponsors and patient advocacy organizations,” said Charlene Son Rigby, CEO of RARE-X. “She’s demonstrated an ability to take small pilot programs and scale them through long-term collaborations; that’s one of the things we’ll be looking for her to do at RARE-X.”

As a clinical genetic counselor, Trzupek developed the first nationwide telemedicine program for rare disease genetic counseling and testing and co-developed the first pharma-sponsored genetic testing program in the United States. She holds a B.S. in Microbiology and Chemistry from the University of Illinois and an M.S. in Genetic Counseling from Northwestern University.

Trzupek said that while biopharma investment in rare disease drug development has grown significantly over the last ten years, it still is only directed at a small portion of the rare disease community.

“The vast majority of rare disease patient populations don’t have clinical trials available or even on the near horizon. They don’t have relationships with industry. They don’t have the knowledge or connections to forge relationships with biopharma companies,” she said. “It’s exciting to be part of an organization where we can start to change that model and help rare patient populations work together to use patient-owned data to advance research and development leading to meaningful therapies.”