ASXL Resource Library
The ASXL Resource Library includes free on-demand videos and articles on topics including understanding the genetics of ASXL-related disorders, managing medical care, and research updates. Presentations and articles are organized by category.
Additional information and research about each ASXL syndrome can be found on the ASXL Syndromes page.
Content categories
Introductory resources
Introductory resources
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Article: What causes ASXL-related disorders?
This article describes the genetic basics of ASXL-related disorders.
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Article: Epigenetics and ASXL-related disorders
This article explains the role that the ASXL genes play in the epigenetic regulatory system.
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Video: Introduction to ASXL-related disorders
This 19-minute video with Dr. Vishnu Cuddapah explains the basics of DNA, genes, and how a change to the ASXL genes causes neurodevelopmental disorders.
Introduction to ASXL-related disorders
Virtual presentation (August 23, 2021)
Vishnu Cuddapah, MD from the Children's Hospital of Philadelphia explains the genetic basics of ASXL-related disorders including what the ASXL genes are, what they do, and how changes to the ASXL genes can result in Bohring-Opitz Syndrome, Shashi-Pena Syndrome, or Bainbridge-Ropers Syndrome. Dr. Cuddapah explains what DNA and genes do, how gene expression works, the difference between de novo (new) and inherited genetic conditions, and provides an overview of each syndrome.
ASXL-related disorders introduction
Published symptoms and clinical features
The ARRE Foundation cataloged a list of all the symptoms reported in the medical literature about individuals with each ASXL-related disorder. This chart of symptoms across health domains is available in a downloadable PDF and is a helpful document to share with your loved one’s doctors.
It’s important to note that all the symptoms listed here are not present in every individual. This is a wide range of symptoms reported across multiple individuals who have varying severity of their condition. The intent of this document is to help you and your loved one’s doctors know what signs and symptoms to watch for.
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Chart: Published symptoms and clinical features of ASXL1-related disorder (Bohring-Opitz Syndrome)
This chart includes a list of clinical features of ASXL1-related disorder (Bohring-Opitz Syndrome) in 63 individuals who have been documented in the published research as of October 2023.
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Chart: Published symptoms and clinical features of ASXL2-related disorder (Shashi-Pena Syndrome)
This chart includes a list of clinical features of ASXL2-related disorder (Shashi-Pena Syndrome) in 14 individuals who have been documented in the published research as of October 2023.
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Chart: Published symptoms and clinical features of ASXL3-related disorder (Bainbridge-Ropers Syndrome)
This chart includes a list of clinical features of ASXL3-related disorder (Bainbridge-Ropers Syndrome) in 109 individuals who have been documented in the published research as of October 2023.
Guides for living with ASXL-related disorders
These guides offer overviews of the most common symptoms and their management for individuals with each of the three ASXL-related disorders. It’s important to note that all the symptoms listed here are not present in every individual. The various systems highlighted throughout these guides are closely interconnected, so treatment of one symptom may work to improve others. These guides are available in downloadable PDFs and can be helpful documents to share with your loved one’s healthcare providers. Financial support for developing and producing these guides was made possible by the American Legion Child Welfare Foundation.
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Guide: Living with Bohring-Opitz Syndrome
This guide provides an overview of the most common symptoms associated with Bohring-Opitz Syndrome and their management.
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Guide: Living with Shashi-Pena Syndrome
This guide provides an overview of the most common symptoms associated with Shashi-Pena Syndrome and their management.
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Guide: Living with Bainbridge-Ropers Syndrome
This guide provides an overview of the most common symptoms associated with Bainbridge-Ropers Syndrome and their management.
Additional resource guides
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ASXL-related Disorders: A Glossary
This glossary provides quick definitions of some of the key terms you may hear in visits with healthcare professionals across specialties.
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Guide: How to participate in research
This guide offers an overview of how to participate in research studies, including how to find and enroll in a study, the requirements for enrollment, and the process that follows participation.
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Educational guide for healthcare providers on ASXL-related disorders
This guide highlights key factors and important considerations for healthcare professionals involved in the care of individuals with ASXL-related disorders.
Video library
2024/2025 Webinar Series
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Benefits of massage for children with ASXL-related disorders and their families
Join Lesley Gould, a baby massage and baby yoga instructor, as she discusses the benefits of massage for babies and children with ASXL-related disorders.
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DIR Floortime: A relationship-based therapeutic approach
Occupational therapists Toni Tortora, MS, OTR/L and Brenna McNamee, MS, OTR/L give an introduction of DIRFloortime®, a developmental approach that emphasizes relationships over compliance. Jamie Ordower adds her perspective as a parent of a child who has benefited from the DIRFloortime® approach.
Recordings from 2024 ASXL Family Conference
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How the ASXL community is preparing for clinical trials
Hear from Natasha Ludwig, PhD of Kennedy Krieger Institute and Johns Hopkins School of Medicine and Bianca Russell, MD of UCLA as they discuss how the ASXL community is preparing for clinical trials.
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Engaging complex and palliative care in your child's care team
Gain insights from Dr. Heather Brown, a palliative care specialist at Kennedy Krieger Institute, as she gives an overview of what palliative care is and how to engage with a palliative care team in your child’s care. Listen to Laura Badmaev, ASXL1 parent, and Joanna Bailey, ASXL3 parent, as they share their experiences incorporating complex and palliative care services into their child’s care plan.
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Managing sleep disruptions
Learn from Valerie Paasch, PhD a pediatric psychologist and Director of Behavioral Sleep Services in the Sleep Disorder Clinic at Kennedy Krieger Institute, as she explains why sleep disruptions are common in neurodevelopmental disorders. Gain insight from Bob Walsh, ASXL3 parent, and Matina Trussell, ASXL2 parent, as they share their strategies for helping their children get better sleep.
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ARRE Foundation mission and updates
Discover what the ARRE Foundation is focused on as Amanda Johnson, executive director of the ARRE Foundation, gives an overview of the Foundation’s mission and the ongoing supporting work. This talk includes details of the current research roadmap.
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Understanding the ASXL genes
Learn from scientific advisor Stephanie Bielas, PhD from the University of Michigan as she breaks down the ASXL genes, including describing what we know about how they work and what still needs to be understood.
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Conference Q&A
Hear from Stephanie Bielas, PhD University of Michigan, Amanda Johnson of the ARRE Foundation, and Bianca Russell, MD UCLA as they answer questions from virtual and in person attendees at the 2024 ASXL Research Symposium and Family Conference.
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Strategies to assess & manage challenging behaviors
Gain insight as Julia O’Connor, PhD from Kennedy Krieger Institute and Johns Hopkins School of Medicine introduces different approaches for navigating and managing challenging behaviors.
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Care for developmental & behavioral issues related to GI health in neurodevelopmental disabilities
Learn from Andres Jimenez-Gomez, pediatric neurologist from Joe DiMaggio Children’s Hospital, as he explores the connections between gastrointestinal, developmental, and behavioral issues for kids with neurodevelopmental disabilities.
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Understanding cortical visual impairment (CVI)
Hear from Rebecca Hommer, EdD of the University of Maryland as she gives an introduction to cortical visual impairment (CVI). Her presentation covers the causes, characteristics, phases, diagnosis, and life impacts of CVI.
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Conference closing: Where do we go from here?
Where do we go from here and how can families support our community's progress as we learn more about ASXL-related disorders? Join Amanda Johnson, executive director of the ARRE Foundation as she explains next steps, foundation goals, calls to participate in research and wraps up the 2024 ASXL Research Symposium and Family Conference.
About ASXL1/Bohring-Opitz Syndrome
Bohring-Opitz Syndrome Awareness Day
Awareness campaign (March 29, 2022)
Learn about Bohring-Opitz Syndrome, a rare neurodevelopmental disorder caused by a change (mutation) in the ASXL1 gene, and meet some of the estimated 200 people worldwide who have Bohring-Opitz Syndrome. Bohring-Opitz Syndrome Awareness Day is on April 6.
Bohring-Opitz Syndrome Awareness Day
2021 ASXL Family Conference: ASXL1/Bohring-Opitz Syndrome session
Virtual 2021 ASXL1 Family Conference (July 25, 2021)
Experts Bianca Russell, MD (University of California Los Angeles) and Wen-Hann Tan, BMBS (Boston Children's Hospital) provide a research and clinical overview of Bohring-Opitz Syndrome for families. This session is part of the virtual 2021 ASXL Family Conference hosted by the ASXL Rare Research Endowment Foundation.
2021 ASXL Family Conference: ASXL1/Bohring-Opitz Syndrome
About ASXL2/Shashi-Pena Syndrome
What is Shashi-Pena Syndrome?
Awareness campaign (September 22, 2022)
Shashi-Pena Syndrome is an ultra-rare neurodevelopmental disorder caused by a change, or mutation, in the ASXL2 gene. There are an estimated 40-45 individuals diagnosed with Shashi-Pena Syndrome globally. Common features of Shashi-Pena Syndrome include distinct facial features (large head, wide-set eyes, birthmarks), low muscle tone (hypotonia) developmental delay, difficulty controlling blood sugar, orthopedic complications (bone density, advanced bone age, scoliosis), heart defects, behavioral and sensory challenges, constipation, and seizures. There are no treatments to address the underlying cause of Shashi-Pena Syndrome. Treatment includes managing individual symptoms.
What is Shashi-Pena Syndrome?
The Faces of Shashi-Pena Syndrome
Awareness campaign (September 14, 2022)
Families share their experiences living with Shashi-Pena Syndrome, an ultra-rare neurodevelopmental disorder caused by a change in the ASXL2 gene.
The Faces of Shashi-Pena Syndrome
2021 ASXL Family Conference: ASXL2/Shashi-Pena Syndrome session
Virtual Family Conference (July 18, 2021)
Experts Loren Peña, MD, PhD (Cincinnati Children's Hospital) and Vandana Shashi, MD (Duke University) provide a research and clinical overview of Shashi-Pena Syndrome for families. This session is part of the virtual 2021 ASXL Family Conference hosted by the ASXL Rare Research Endowment Foundation.
About ASXL3/Bainbridge-Ropers Syndrome
What is Bainbridge-Ropers Syndrome?
Awareness campaign (November 22, 2022)
Bainbridge-Ropers Syndrome is an ultra-rare neurodevelopmental disorder caused by a change, or mutation, in the ASXL3 gene. There are an estimated 300 individuals diagnosed with Bainbridge-Ropers Syndrome globally. Common features of Bainbridge-Ropers Syndrome include global developmental delay, intellectual disability, low muscle tone (hypotonia), feeding difficulties, gastrointestinal issues, speech delay or absent speech, behavioral and sensory challenges, dental and palate complications, and seizures. There are no treatments to address the underlying cause of Bainbridge-Ropers Syndrome. Treatment includes managing individual symptoms.
Bainbridge-Ropers Syndrome awareness video
ASXL3/Bainbridge-Ropers Syndrome family updates
Virtual presentation (April 24, 2023)
Dr. Meena Balasubramanian (Sheffield Children's NHS Foundation Trust), a clinical expert in ASXL3-related disorder (Bainbridge-Ropers Syndrome) provides an update on the latest understanding of Bainbridge-Ropers Syndrome, shares findings from a recent research paper about inheritance of Bainbridge-Ropers Syndrome, and answers family questions.
2023 ASXL3/Bainbridge-Ropers Syndrome
2021 ASXL Family Conference: ASXL3/Bainbridge-Ropers Syndrome session
Virtual Family Conference (July 17, 2021)
Experts Stephanie Bielas, PhD (University of Michigan) and Wendy Chung, MD, PhD (Columbia University) provide a research and clinical overview of Bainbridge-Ropers Syndrome for families. This session is part of the virtual 2021 ASXL Family Conference hosted by the ASXL Rare Research Endowment Foundation.
2021 ASXL: Family Conference ASXL3/Bainbridge- Ropers Syndrome session
Managing medical care
Proactive strategies for managing respiratory virus season
Recorded webinar (October 23, 2024)
Even common, typically mild respiratory viruses can cause serious respiratory symptoms and complications in young children with ASXL-related disorders. In this recorded webinar, pediatric pulmonologist Joshua Needleman, MD (Maimonides Health) and ASXL parent Laura Badmaev discuss preventative and proactive strategies for managing respiratory viruses in children with ASXL-related disorders.
Results of the ASXL Puberty Survey with puberty Q&A
Recorded webinar (November 7, 2023)
In this recorded webinar, student researcher Amanda Piring, endocrinologist Rebecca Hicks, MD, and clinical geneticist Bianca Russell, MD (all from the University of California Los Angeles) share the results of the ASXL Puberty Survey that was conducted in early 2023. The research team discusses the major findings of the ASXL Puberty Study and takes questions from families about puberty-related issues including precocious puberty (early puberty), emergence of seizures with puberty, advanced bone age and bone density, and menstrual management.
To enroll in the ASXL Patient Registry, please contact asxl-chromatin-registry@mednet.ucla.edu.
Sharing the results of the ASXL Puberty Survey
Kidney abnormalities in genetic conditions
Recorded webinar (September 28, 2023)
Dr. Michael Rauchman, a nephrologist (kidney specialist) at Washington University of St. Louis shares information for families about kidney development in genetic conditions in this recorded webinar. In this presentation he gives an overview of different types of congenital anomalies that affect the kidney and urinary tract; describes clinical manifestations and treatments for these birth defects, and explain how they may be clinically silent and why it is important to identify them; and provides a brief description of how we study these disorders and how this research could impact patients in the future.
To take the survey mentioned in this webinar, please contact the ASXL Patient Registry at asxl-chromatin-registry@mednet.ucla.edu.
Kidney abnormalities in genetic conditions
Brain and body in motion: Why movement matters in neurogenetic and neurodevelopment conditions
2022 ASXL Family Conference (July 21, 2022)
Rujuta Wilson, MD, a behavioral neurologist at UCLA, describes the science between the brain/body connection, how movement and mobility impacts other body systems, and how families can help maximize their child's independence across a spectrum of skills and abilities. This presentation was given at the 2022 ASXL Family Conference.
Brain and body in motion
Communication: tools, methods, and strategies for all abilities
2022 ASXL Family Conference (July 21, 2022)
Parents of children with ASXL-related disorders share their experiences with different approaches to communication including sign language, augmentative and alternative communication (AAC) devices, yes/no buttons, and interpreting non-verbal cues. Panelists include: • Caitlin Calder, Bainbridge-Ropers Syndrome parent • Michelle Koo, Bainbridge-Ropers Syndrome parent • Lauren O'Neil, Bohring-Opitz Syndrome parent • Joanna Bailey, Bainbridge-Ropers Syndrome parent This presentation was given at the 2022 ASXL Family Conference.
Communication: tools, methods and strategies for all abilities.
Urinary incontinence: From toilet training to medical intervention
2022 ASXL Family Conference (July 21, 2022)
Parents of children with ASXL-related disorders share their perspectives on toilet training and managing urinary health. These include strategies for working toward independence with toileting and managing more complex challenges related to urinary health including infections, kidney disease, and catheterization. Panelists include: • Laura Badmaev, Bohring-Opitz Syndrome parent • Sheri Bermejo, Bohring-Opitz Syndrome parent • Alyssa Berry, Bainbridge-Ropers Syndrome parent • Sarah Scott, Shashi-Pena Syndrome parent
Urinary incontinence.
Managing chronic gastrointestinal troubles: cyclic vomiting and constipation
2022 ASXL Family Conference (July 21, 2022)
Dr. Saumya Pathak, a pediatric gastroenterologist, describes common gastrointestinal challenges in individuals with neurodevelopmental disorders like ASXL syndromes. Her presentation includes management strategies for chronic constipation and cyclic vomiting, and an overview of different surgical and feeding interventions including feeding tubes.
Managing chronic gastrointestinal troubles
Specialized therapies: Family experiences with non-traditional therapies
2022 ASXL Family Conference (July 21, 2022)
Parents Nikki Crews (ASXL3/Bainbridge-Ropers Syndrome), Julie Lopez (ASXL1/Bohring-Opitz Syndrome), and Jamie Ordower (ASXL1/Bainbridge Ropers Syndrome) share their experiences with therapies outside of the traditional physical and occupational therapies. They discuss equine (horse) therapy, music therapy, and a therapy focused on the brain-body connection called the Anat Baniel Method. They discuss how they accessed these therapies and how these therapies have benefitted their children's development. This session was recorded at the 2022 ASXL Family Conference in July 2022 in Los Angeles.
Specialized therapies
Transitions through puberty
2022 ASXL Family Conference (July 21, 2022)
Dr. Rebecca Hicks, a pediatric endocrinologist at UCLA, discusses changes to expect in individuals with neurodevelopmental disorders (such as ASXL syndromes) as they go through puberty. She discusses typical changes that occur in puberty, signs of precocious (early) puberty, and other changes for families to be aware of, such as changes in seizure activity. This session was recorded at the 2022 ASXL Family Conference in July 2022 in Los Angeles.
Transitions through puberty
Managing self-injurious behavior
2022 ASXL Family Conference (July 21, 2022)
Parents Amy Brady (Bainbridge-Ropers Syndrome), Kathleen Paden (Bohring-Opitz Syndrome), and Paula Phelps (Bohring-Opitz Syndrome) share their experiences with their children's self-injurious behavior that includes self-injury, including hair pulling, biting, punching, and head banging. Their experiences range from occasional self-injury to pervasive self-injury. They discuss helpful equipment and management strategies for home, school, and in other social settings. This session was recorded at the 2022 ASXL Family Conference in July 2022 in Los Angeles.
Managing self-injurious behavior
Sensory sidebar: Integrating sensory supports
2022 ASXL Family Conference (July 21, 2022)
Shelby Surfas, OTD, OTR/L, BCP and Winny Soenaryo, OTD, OTR/L, occupational therapists at the USC Center for Excellence in Developmental Disabilities, provide practical examples of how to support your sensory-seeking or sensory-avoiding loved one. This session was recorded at the 2022 ASXL Family Conference in July 2022 in Los Angeles.
Sensory sidebar: Integrating sensory supports
Genetic Epilepsy
Virtual presentation (October 2, 2022)
Dr. Julie Ziobro presents how epilepsy manifests in genetic syndromes like ASXL. She discusses the causes of epilepsy, types of seizures, diagnosis, and seizure management through medications and alternative therapies.
Genetic Epilepsy
Family experiences with orthopedic surgeries
Virtual roundtable discussion (March 25, 2022)
This session includes the perspective of parents of children with ASXL syndromes who have had experience with major orthopedic surgeries, including spinal fusions, and foot/ankle reconstruction. Panelists include parents of children who had surgery recently and children who had surgery years ago. The panelists share their perspective on why they chose surgery for their children and their experiences recovering from surgery.
Family experiences with orthopedic surgeries.
Music therapy: Incorporating musical play into therapies for children
Recorded webinar (October 14, 2022)
Music therapist Kate Beever, MA, MT-BC (Maine Music and Health) provides an overview of what music therapy is and what a session looks (and sounds!) like, why music therapy is beneficial, and how to incorporate music into other therapies. For lots more about music therapy, visit Kate's blog: mainemusicandhealth.com/blog
Resources for caregivers
Caregiver webinar series
Part 1: Caregiver well-being: Roundtable discussion with ASXL parent leaders
Recorded webinar (June 11, 2024)
Four ASXL parents share practical tips and advice from their own personal experience finding ways to care for their mental and physical wellbeing while also caring for a child with complex needs.
Caregiver webinar series
Part 2: Caregiver well-being workshop
Recorded webinar (August 6, 2024)
Join clinician Abigail Moretti, MA (Rowan University Department of Psychology), as she shares several exercises, practical tips, and tools for navigating the journey of being a caregiver and an individual. Her presentation includes:
An exercise to identify core family values of yours and turn those values into daily actions and goals
Centering exercises -Ideas for creative/unique times to practice mindfulness
Techniques for defusion and a guided defusion exercise
ASXL research updates
Finding answers through research
Awareness campaign (November 22, 2022)
What if your loved one had a genetic disorder so rare that no one had ever heard of it before -- let alone knew how to treat it? For many families with Bohring-Opitz Syndrome, Shashi-Pena Syndrome, and Bainbridge-Ropers Syndrome, this is their reality. The ASXL Rare Research Endowment Foundation is trying to change that. Your contribution helps support research and education that improves the quality of life for families living with an ASXL syndrome. From research grants for scientists to educational events for families, your gift to the ARRE Foundation is supporting a brighter future full of knowledge and hope.
Finding answers through research video
Fireside chat: Updates from the ARRE Foundation with Laura Badmaev and Amanda Johnson
Organizational update (November 17, 2023)
ARRE Foundation founder, chair, and Bohring-Opitz Syndrome parent Laura Badmaev shares a fireside conversation with ARRE Foundation Executive Director Amanda Johnson. This video update for ASXL families includes discussion of family resources, the state of ASXL research including the drug development process, and how families can get involved in research.
Updates from the ARRE Foundation with Laura Badmaev and Amanda Johnson
Research Roadmap updated (September 2022)
Update video on strategic planning process (September 23, 2022)
ARRE Foundation executive director Amanda Johnson provides an update on the Research Roadmap strategic planning process following the strategic planning meeting in July 2022. The Research Roadmap is strategic plan to guide the ARRE Foundation's future investments in research and partnerships that will bring life-improving treatments to families as quickly and efficiently as possible. The development of this strategic plan started in early 2022 and is ongoing into 2023.
Research Roadmap update
Research update: DNA methylation patterns associated with Bohring-Opitz Syndrome
Virtual research update (April 5, 2022)
In April 2022, a collaborative team from the Hospital for SickKids and the University of California Los Angeles published a paper in the European Journal of Human Genetics titled, "DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes." In this video, lead researcher Zain Awamleh, PhD explains what a DNA methylation pattern is and that the research team found a distinctive pattern associated with Bohring-Opitz Syndrome. This pattern can be used to improve diagnoses and can be used as a biomarker, or measurement tool, to test the effectiveness of future therapies. This work was funded in part by the ARRE Foundation with contributions from families living with ASXL syndromes. We thank all of the families who have contributed to research, both financially and by providing biological samples to make this work possible. Read the full article: https://www.nature.com/articles/s4143...
Research update
Ask-a-Researcher: Valerie Arboleda, MD, PhD
Virtual Presentation (December 16, 2021)
Valerie Arboleda, MD, PhD from the University of California Los Angeles presents her team's work, "Multi-omic studies in ASXL syndromes: Deciphering the gene-regulatory role of ASXL gene family" in simple scientific terms. With funding support from the ARRE Foundation, Dr. Arboleda and her team are attempting to establish biomarkers for BOS, which are measurable indicators of disease. This is critical, foundational work that paves the way for being able to test drugs on BOS cells to see if there is improvement at the cellular level. Dr. Arboleda answers questions from participants at the end of the session.
Ask-a-Researcher: Valerie Arboleda, MD, PhD
Ask-a-Researcher: Dr. Rosanna Weksberg and Zain Awamleh, PhD
Virtual Presentation (September 23, 2021)
Dr. Rosanna Weksberg and Zain Awamleh, PhD from the Hospital for Sick Kids and the University of Toronto present their work, "ASXL-related neurodevelopmental disorders: the role of epigenetics" in simple scientific terms. With funding support from the ARRE Foundation, Dr. Weksberg and her team are studying the patterns of DNA methylation, or signatures, associated with changes in these genes. Their research into these signatures has promise to improve our ability to diagnose ASXL-related syndromes and improve our understanding of the functions of ASXL genes. Dr. Weksberg and Dr. Awamleh answer from participants at the end of the session.
Ask-a-Researcher: Dr. Rosanna Weksberg and Zain Awamleh, PhD
Hope through research
Virtual research video (December 21, 2021)
We don’t have many answers now. But there is tremendous hope through research. Please support ASXL research with your gift to the ARRE Foundation today at www.arrefoundation.org/donate.
Hope through research