Family Meeting: Unite & Learn with SKDEAS Community

FAMILY MEETING

The SKDEAS Family Meeting is not just an event; it's a movement. Every two years, families, researchers, and supporters from around the globe come together to share, learn, and inspire. This year, we gathered in Philadelphia to continue our journey toward understanding and advocating for Skraban-Deardorff Syndrome.

Welcome to the SKDEAS Family Meeting video series!

Below, you will find insightful presentations from our esteemed speakers, each an expert in their field, sharing valuable knowledge and advancements related to Skraban-Deardorff Syndrome. These videos are a testament to the dedication and collaborative efforts within our community to improve the lives of those affected.

Discover more about each speaker in the biographies provided below the videos.

Current Clinical Understanding of Skraban-Deardorff Syndrome

Moving the Needle: From Diagnosis to Treatment

Genetics Concepts

Genetic Counseling for Skraban-Deardorff Syndrome

Initial Findings from Caregiver-Reported Neurobehavioral Measures in Skraban-Deardorff Syndrome

Challenges in Therapy for Neurodevelopmental Disorders

What the Fruit Fly has to say about Human Neurodevelopmental Disorders

WDR26 and the GID Complex

Toilet Training Strategies for Individuals with SKDEAS

Download presentation slides here

SKDEAS Sleep Patterns

Parent Discussion: Alternative Therapies

Parent Discussion: ABA Therapy

Parent Discussion: Speech Therapy Techniques

Welcome from Italy: SorrisInvincibili - Sindrome Skraban Deardorff APS

Our Speakers

Cara Skraban, MD

I am a clinical geneticist at the Children’s Hospital of Philadelphia and Associate Professor of Clinical Pediatrics at the Perelman School of Medicine at the University of Pennsylvania. I work as a full-time clinician and spend most of my days working with patients and families, teaching, and training the next generation of clinical geneticists. Originally from South Florida, I completed my undergraduate degree at Rollins College. I then went to medical school at the University of Virginia where I did my residency training in Pediatrics. Following residency, I came to Philadelphia for my Medical Genetics training at the Children’s Hospital of Philadelphia (CHOP).

As part of my genetics training at CHOP, I conducted research in the laboratory of Dr. Matt Deardorff. During that time, we stumbled onto a patient with a change in the gene WDR26 that eventually brought us to the initial description of the condition, now known as Skraban-Deardorff syndrome, in 2017. Since that time, I have continued to work with these amazing individuals. They are truly awe-inspiring. Their resilience, infectious energy, and pure joy for life makes it easy to instantly fall in love with them and motivates me to want to continue striving to find ways to improve their lives. All it takes is to see them smile and you’re hooked. Their families are the most dedicated and motivated group of people that I have ever had the privilege with which to work, and it is no secret that they are the force behind the success of the Skraban-Deardorff Syndrome Foundation. Without them, none of this would be possible. A sincere thank you to them for everything they do and for the honor of being part of their children’s lives.

Katie Grand, MS, LCGC

I am a genetic counselor in the Department of Pediatrics at Cedars-Sinai Medical Center Los Angeles, California. I was born and raised in Harrison Township, Michigan, which is a suburb of Detroit, and did my undergraduate education at the University of Michigan (go Blue!). After undergrad, I attended Arcadia University and graduated with my Masters of Science in Genetic Counseling. Prior to moving to Los Angeles, I worked at the Children’s Hospital of Philadelphia with Matt Deardorff and Cara Skraban where I was lucky enough to start working with the SKDEAS population. It has been surreal to compare when we first started this journey to now. My favorite part of working with the SKDEAS population is by far interacting with the kids and their families. The kids are some of the most joyous, loving, and inspiring kids that I have ever met and their parents are supporting them in every way. When I am not working, I enjoy walking with my dog, Darla, traveling, and being outside.

Matt Deardorff, MD, PhD

I am a clinical geneticist and physician-scientist and serve as the Director of Personalized Care at the Children’s Hospital Los Angeles as well as a Professor of Clinical Pathology and Pediatrics at the Keck School of Medicine of the University of Southern California. In a nutshell, I spend my time trying to figure out how to more quickly diagnose children with genetic disorders and figure out the best ways to help them.

I grew up on a farm in Central Pennsylvania, and after attending Bucknell University, spent nearly 30 years in Philadelphia. This started at the University of Pennsylvania (Penn) doing my medical degree and a PhD in molecular and developmental biology. I then shifted to Children’s Hospital of Philadelphia (CHOP) for my residencies in Pediatrics and Clinical Genetics. Following that, I got my “first real job” (according to my late father) at CHOP and Penn seeing children with rare disorders in clinic and working to better understand their cause in my research lab. As with many of the important projects in my lab, our introduction to WDR26 came from seeing a young girl in clinic. At that time, we knew very little about the WDR26 gene and even less about what the clinical effects of changes in the gene might be. This encounter, now more than 10 years ago, has developed into a much, much broader effort with dozens of families and a growing list of scientific collaborators. However, the encounters with every individual child, as well as the inspiration from families when they get together, have served to push us to ask the hard, but critical questions that will hopefully one day lead us to better treatments.

In 2020, I was recruited to come to Children’s Hospital Los Angeles to identify ways to diagnose and propose therapies for children at a health system-wide level. To help me with this, I have had the good fortune of many amazing meaningful encounters with families and family support foundations. These experiences serve as a constant anchor when trying to navigate change in a large health system for children with rare disorders!

Christopher Gray, MS, LCGC

I have been a genetic counselor in the Roberts Individualized Medical Genetics Center and the Division of Human Genetics at Children’s Hospital of Philadelphia since 2018. I provide genetic counseling to patients who have been referred for the diagnosis and management of many pediatric genetic disorders. As part of my work, I consider it a great privilege to be able to participate in the care of our SKDEAS population here at CHOP. When I am not seeing patients, I enjoy contributing to the work of the SKDEAS Foundation alongside an amazing team of impassioned families, clinicians, and scientists, all working together to expand our understanding of this diagnosis and connect our growing global community.

I am originally from just outside of Toronto, Ontario, Canada. I received my Bachelor of Science (Hons.) in Biology and Molecular Genetics from Queen’s University in Kingston, Ontario, before obtaining my Master of Science in Genetic Counseling from the University of Toronto. During my clinical training at the Hospital for Sick Children in Toronto, I grew a particular affinity for working with undiagnosed and rare disease populations. The tenacity of these patients and the motivation of their parents/guardians left a profound impact on me. In my personal life, I enjoy baking bread on weekends, running, and enjoying the outdoors with my dog, Rudy!

Thomas Frazier, PhD

Dr. Frazier is a licensed clinical psychologist who received his PhD from Case Western Reserve University in 2004. He joined the Cleveland Clinic in 2006 and from 2013-2017 was the director of the Cleveland Clinic Center for Autism and the Lerner School providing assessment and behavioral intervention to children and young adults. He was the Chief Science Officer at Autism Speaks from 2017 to 2021 and is currently the national board chair. He is also a Professor of Psychology at John Carroll University and a Research Professor in Pediatrics and Psychiatry at SUNY-Upstate.

Over the last decade, Dr. Frazier has maintained active clinical research programs focused on the evaluation and treatment of autism and related neurogenetic syndromes. He has published more than 150 scientific papers and his recent work has focused on measuring key neurobehavioral processes relevant to early identification and monitoring response to intervention.

Jon Wilde, PhD

Jonathan Wilde, PhD is the Senior Director of Discovery Research at Emugen Therapeutics, a private biotechnology company based in Woburn, MA that is developing next-generation gene therapies for neurodevelopmental and neurodegenerative diseases. Dr. Wilde has a Bachelor of Science degree in Biotechnology from The Pennsylvania State University and a PhD in Cell Biology, Stem Cells, and Development from University of Colorado Anschutz Medical Campus where he identified novel mechanisms regulating vitamin A’s functions during early brain development. During his postdoctoral fellowship with Dr. Guoping Feng at The McGovern Institute for Brain Research at MIT he developed cutting-edge genome editing approaches and engineered primate and mouse models of neurological disorders. Following his postdoc, Dr. Wilde was a group leader at the McGovern Institute where he continued to improve genome editing approaches and developed tools to assess their safety and efficacy in non-human primates. His multidisciplinary expertise spans the fields of molecular genetics, cellular and molecular neuroscience, developmental biology, and genome editing. Dr. Wilde is a founding scientist at Emugen Therapeutics, having overseen its early-stage research & development since the company’s launch in 2021.

Yuanquan Song, PhD

Dr. Yuanquan Song received his Bachelor’s degree in Biotechnology from Shanghai Jiao Tong University and his PhD in Neuroscience from the University of Pennsylvania. He did his postdoctoral training in the Jan lab at UCSF, where he started the journey in neuroregeneration. In 2016, Dr. Song established his own lab at the University of Pennsylvania and Children’s Hospital of Philadelphia. His lab aims to understand the cellular and molecular basis governing the formation, maintenance and function of neural circuits under physiological and pathological conditions. He has been collaborating with CHOP colleagues to determine the pathogenicity of genetic variants found in patients with neurodevelopmental disorders and uncover the underlying mechanism.

Vishnu Anand Cuddapah, MD, PhD

Vishnu Anand Cuddapah, MD, PhD is a clinical neurogeneticist at the Texas Children’s Hospital and Baylor College of Medicine. Dr. Cuddapah’s research program is focused on understanding why, despite a diversity of genetic causes, neurodevelopmental disorders are associated with sleep disturbances and seizures. As a post-doctoral research fellow in the laboratory of Amita Sehgal, PhD at the University of Pennsylvania, Dr. Cuddapah developed the fly model system to understand why poor sleep increases seizure risk. Dr. Cuddapah’s research has been supported by a Neuroscience Research Training Scholarship from the American Academy of Neurology, Taking Flight Award from CURE Epilepsy, and a K08 Career Development Award from the National Institutes of Health.

Lyndsay Wheeler, M.Ed., BCBA, LBA

Lyndsay Wheeler, a licensed and board-certified behavior analyst, has dedicated her life to this field. Her passion was ignited at an early age, influenced by her childhood and her family’s exposure to children with autism and other developmental disabilities. These experiences inspired her to focus on interventions and education that would support individuals and families from infancy through adulthood. Lyndsay’s academic journey includes a Bachelor of Science degree in Communication Sciences and Disorders from the University of Oklahoma Health Sciences Center, where she studied speech-language pathology. She furthered her education with an M.Ed. in Special Education, specializing in autism intervention. Her pursuit of excellence led her to complete graduate coursework through the Florida Institute of Technology to obtain her certification in Applied Behavioral Analysis.

Lyndsay has over 17 years’ experience in applied behavior analytic intervention and implementation. Her areas of expertise include functional assessment, antecedent, and replacement behavior interventions, reduction of problem behavior and stereotypical behaviors and increasing social significant skills, functional communication training, toilet and sleep training, multiple communication modality training, parent training, Verbal behavior, and the use of naturalistic teaching strategies, executive functioning, working memory, reading readiness and transition skills. She currently serves as the Executive Treatment Operations Director of Therapy and Beyond and oversees regional clinics in Oklahoma, Texas and Colorado.

Brenda Schulman, PhD

Professor Brenda A. Schulman is a biochemist, structural biologist, and cell biologist. Her lab elucidates fundamental principles underlying cellular regulation by small proteins known as ubiquitin and ubiquitin-like proteins.

She was a faculty member at St. Jude Children’s Research Hospital, from 2001 – 2017, an Investigator of the Howard Hughes Medical Institute from 2005 – 2017 and has been a Director at the Max Planck Institute of Biochemistry in Martinsried, Germany since 2017, leading the Molecular Machines and Signaling Group.

Professor Schulman has been honored with numerous awards for her research including the United States Presidential Early Career Award for Scientists and Engineers (2004), election to the American Academy of Arts and Sciences (2012) and the National Academy of Sciences USA (2014).

Kristina Sobko, MS

Kristina Sobko is a recent graduate of Keck Graduate Institute (California) and holds a Master of Science degree in Genetic Counseling. During her studies, she pursued a project that investigated sleep patterns in individuals with SKDEAS. Prior to becoming a genetic counselor, Kristina received a Masters Degree in Clinical Psychology and practiced as a mental health professional in the state of California for many years. In her spare time, Kristina is passionate about dance and helping less fortunate furry companions find homes.

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Attendees by Country

United States 134

Brazil 13

Canada 10

England 8

Germany 7

Italy 7

Australia 6

France 4

Thailand 4

Ukraine 4

Ireland 3

Switzerland 3

India 2

Norway 2

Poland 2

Russia 2

Spain 2

Locations in Attendance

Alabama Huntsville

Arizona Phoenix | Tucson

Arkansas Benton

Australia Brisbane | Queensland

Brazil Santos | Minas Gerais | Sao Paulo

Canada British Columbia | Ontario | Quebec

Connecticut Trumbull

England Manchester | Surrey

Florida Jupiter | St. Cloud | Wellington

France Lamballe

Germany Bavaria | Mecklenburg Vorpommern | Frankfort

Hawaii Honolulu

India Karnataka

Indiana Fort Wayne

Ireland Cork

Italy Genoa | Lombardia | Roma

Louisiana Sulphur

Maine Hartland

Massachusetts Boston | Wrentham

Missouri St. Charles

New Jersey Egg Harbor Twp. | Mantua | Princeton | Randolph

North Carolina Charlotte | Monroe | Raleigh

Norway

Ohio Bowling Green | Georgetown

Oklahoma Oklahoma City

Poland

Russia

Spain Barcelona

Switzerland St. Gallen

Tennessee Knoxville

Texas Houston

Thailand Bangkok

Ukraine Lviv

Virginia Oak Hill | Woodbridge

Washington Redmond | Seattle

Wisconsin Sun Prairie | Waukesha

Thank You

The SKDEAS Foundation would like to extend a heartfelt thank you to the sponsors whose generous support has been vital to the success of this event. Their dedication and commitment have made a significant impact, enriching the experience for each attendee. We deeply appreciate their partnership and contribution.

How to Show Your Support

Your continued support remains essential as we build on the success of our recent Family Meeting. Every contribution, no matter its size, helps us sustain and expand our efforts. Here's how your generosity makes a difference:

Event Follow-Up: Enhancing post-event materials and resources, ensuring all participants can revisit the valuable insights shared.
Ongoing Research and Education: Supporting continuous education and the dissemination of the latest research findings to our community.
Community Support: Providing ongoing resources and assistance to families, helping them navigate daily challenges with confidence.
Future Planning: Preparing for future meetings and events to keep our community connected and informed.

By donating, you play a crucial role in our journey, helping to ensure that every family touched by Skraban-Deardorff Syndrome has the resources and support they need to thrive.

Make a Donation