P.O. Box 50030 London, ON N6A 6H8 info@rett.ca (519) 474-6877

2022 Research Grant Awarded

The Ontario Rett Syndrome Association (O.R.S.A.) Board of Directors has unanimously approved the funding of one research grant totaling $50,000 from The Hope Fund for 2022. The Hope Fund has funded over $678,000 in Canadian research to date.

Grant applications were received and evaluated by O.R.S.A.’s Research Advisory Committee which is comprised of impartial and prominent neurologists, geneticists and scientists from across Canada. O.R.S.A. would like to thank all those individuals that applied for this grant.

The Hope Fund was established in 2014. The funds for this research grant were raised through donations and fundraising activities. O.R.S.A. continues to support research excellence and the development of a wide scope of Rett syndrome research across Canada.

We are pleased to award $50,000 plus indirect costs to Dr. Ellis and Dr. Zani to support their research titled: Astrocyte-derived Extracellular Vesicles to Rescue Rett Syndrome Neurons

Lay Summary:

Rett syndrome (RTT) neurons have shorter extensionscalled dendrites, and fewer synapses that interconnect neurons.RTT astrocytes are less ableto support maturation of these dendrites and synapses. Astrocytes release small dropletscalled exosomes containingmessages in the form of genetic material called microRNA.Exosomesdeliver thecargo to nearby neurons or into the bloodstream, and limitedevidence (PNAS2019) suggeststhathealthy exosomes rescueRTT neurons. However, it is not known if theexosomes are fromastrocytes, and their microRNA cargo was not examined.We willpurify exosomes from human astrocytes andtest their ability to rescue the shapeand activity of RTT neurons. First, we will produceastrocytes fromhealthy and RTT patient induced pluripotent stem cells (iPSC). Exosomes will be isolated, and theirqualitydetermined by electron microscopyandprotein markers.The microRNA cargo will be sequencedand the exosomes testedfor rescue of RTT neuron shapeand activity. We expect to findonly healthyexosomes are able to rescue, and that specificmicroRNAs are responsible. Our findings will advance the understanding of astrocyte biology,and will define a role forastrocyte microRNAs for rescuing RTT neuronsas a step towardsa potentialexosome mediatedtreatment.

James Ellis, PhD 

Hospital for Sick Children, Toronto Canada 

Dr. Ellis completed his BSc at McGill University and his PhD at the University of Toronto with Dr. Alan Bernstein developing retrovirus vectors for gene targeting. His Post-Doctoral Fellowship studying the beta-globin Locus Control Region was mentored by Dr. Frank Grosveld in London UK. Dr. Ellis established his own research team at the Hospital for Sick Children in Toronto in 1994 with a focus on gene therapy for Sickle Cell Anemia. He subsequently developed MECP2 vectors for Rett syndrome, and vectors with reporter genes that mark specific cell types. For example, the EOS vectors express specifically in pluripotent stem cells and facilitate generation of patient induced Pluripotent Stem (iPS) cells. The Ellis lab currently uses these iPS cells in collaborative research teams to model Rett syndrome, Autism Spectrum Disorders and cardiomyopathies. New research directions concentrate on post-transcriptional regulation during human neurodevelopment, and the transfer of microRNA via extracellular vesicles. Dr. Ellis is Research Integrity Advisor at the Hospital for Sick Children. 

Ellis Lab website http://lab.research.sickkids.ca/ellis/ 

Augusto Zani, MD, PhD 

Hospital for Sick Children, Toronto Canada 

Dr. Zani is a Neonatal and Paediatric Surgeon at the Hospital for Sick Children in Toronto, Associate Professor at the Department of Surgery, University of Toronto, and Scientist in the Development and Stem Cell Biology Program at the Peter Gilgan Centre for Research and Learning, SickKids, Toronto, Canada. His clinical interests are congenital anomalies and minimally invasive surgery, and his research focuses on neonatal and pediatric conditions with high morbidity and mortality rates. The Zani lab studies extracellular vesicles (EVs), which are nanoparticles released by all cells for intercellular communication. As EVs carry cargo similar to their cells of origin, EVs can be pathogenesis mediators, biomarkers of disease severity, and therapeutic agents. Among various EV-based projects, the Zani lab has recently been investigating the signatures of EVs isolated from induced plurip 

Zani Lab website: https://lab.research.sickkids.ca/zani/ 

Taysha Gene Therapy Clinical Trial Cleared by Health Canada

Taysha Gene Therapies has announced that Health Canada has sent a “No Objections Letter” for the Phase 1/2 clinical trial of TSHA-102, their investigational gene therapy for adult females with Rett syndrome. This clears the way for commencement of a clinical trial in Canada.

Sainte-Justine Mother and Child University Hospital Center in Montreal, Quebec has been selected as the initial clinical site under the direction of Dr. Elsa Rossignol, principal investigator.

O.R.S.A. will continue to provide updates as progress is made towards enrolling the first patient in this trial.

Download Taysha Community Update PDF – March 30, 2022

March 30, 2022

Dear Rett Community,

We are pleased to share that upon review of the Clinical Trial Application (CTA) for the Phase 1/2 clinical trial of TSHA102, our investigational gene therapy for adult females with Rett syndrome, Taysha has received notification of a “No Objections Letter” from Health Canada. This means that Taysha is cleared to proceed with the clinical trial.

As you are aware, in most patients with Rett, there is a mutation in the MECP2 gene that tells cells how to make a protein called Methyl-CpG-binding protein 2 (MeCP2). This protein plays an important part in the development of the brain throughout childhood, in maintaining normal brain function and communicating between nerve cells. In Rett patients with a MECP2 gene mutation, the body does not make enough or properly make MeCP2.

TSHA-102 is designed to deliver a functional MECP2 gene to the brain in patients with Rett syndrome using a novel technology platform, called miRARE, developed by Drs. Sarah Sinnet and Steven Gray of UT Southwestern Medical Center. TSHA-102 will be tested in a Phase 1/ 2 trial to determine whether the functional MECP2 gene can be packaged with our technology to replace MeCP2 and safely control the level of MeCP2 protein expression.

Approval of the TSHA-102 clinical trial plans by Health Canada is an important milestone, and we are encouraged by the progress made towards initiating a clinical trial.

“Today’s CTA clearance is a pivotal moment for the Rett community, and it would not have been possible without the tireless work of my Taysha Colleagues, our partners at UTSW, the Rett Clinical and Scientific experts with whom we collaborate, and most importantly the Rett syndrome community. Initiation of a clinical trial is a formative moment, and we are motivated by the patients and families whom we serve and the potential of TSHA-102. Thank you to the patient advocacy leaders for your partnership and the patients and caregivers for your continued support.”

Suyash Prasad, MBBS, M.Sc., MRCP, MRCPCH, FFPM,
Pediatrician, Chief Medical Officer and Head of Research & Development at Taysha Gene Therapies

We are grateful for the continued support of the Rett syndrome community and our Rett advocacy partners. We understand that you may have many questions about the trial and plans for future studies. We look forward to providing further updates about the TSHA-102 clinical trial to the global patient organizations as new information becomes available.

The Taysha Team

16th Annual Rett Classic

Saturday June 11th, 2022 – 12:00 PM

Registration:  Beginning at 10:30 a.m.
Tee-Off:  12:00 p.m.
Dinner: To be served following shotgun tournament
Format:  4 Player Scramble
The Greens at Renton
969 Concession 14
Simcoe, ON  N3Y 4K3

Online Registration

Online Dinner Only Registration

Registration Form

Sponsorship Information

Purchase Sponsorship or Donate Online

Deadline for registration is May 27th.

Cash donations and prizes/silent auctions items are greatly appreciated!

Thank you for your support!

Communication Webinars 2022

In collaboration with the other Canadian Rett syndrome organizations, we are presenting a series of free webinars on the topic of communication and AAC.

PODD: How to apply to everyday life and literacy

Jenn Markosky and Julia Drabble

February 13th 2022 (Video available below)

Are you interested in learning about PODD? Do you already know a bit about it but aren’t sure how to use it effectively to create communication and literacy opportunities for your child? Join us as we talk about PODD and learn how it might be useful for your child. Much of the information will also be transferable to other types of vocabulary systems and communication devices.

Jenn Markosky attended Minot State University and has been a speech language pathologist for over 20 years. She has worked for non profit organizations as well as healthcare and recently moved into full time private practice. She specializes in promoting communication for children and adults with complex communication needs. She enjoys coaching and supporting families and teams who use AAC.

Julia Drabble has been a speech-language pathologist for over 20 years. She holds Bachelor and Master degrees in Speech-Language Pathology from Minot State University and has worked in health, education, and the private sector. For the past 18 years, Julia has been employed as a school SLP, working with children from preschool through adulthood. Julia is particularly interested in the area of augmentative and alternative communication (AAC) and believes every person should have an opportunity to find their voice.

The Demanding Device: The lived experience of aided communicators

Kathy Howery

February 18th 2022 (Audio available below)

This presentation will explore the many demands that Speech Generating Devices make of the people with speech impairment that seek to use them to share their voices audibly in the world. The overarching question explored is what does the device demand? What are the cognitive, technological, and physical demands that must be met by the user to express themselves through audible voice? How are these demands experienced in the day to day lives of people who use SGDs? Also brought to light are other demands, demands that are perhaps more subtle and more societal but demands that nonetheless will be shown to shape if, when, and how devices are used. Exploration of Ableism and it’s role in the Demands of the Device will be explored.

Dr Kathy Howery received her PhD in Special Education from the University of Alberta in 2017. She is currently an educational consultant and a sessional lecturer at several Universities in Alberta. Her doctoral research drew upon hermeneutic phenomenology to seek to understand what is it like for young people with complex communication needs (CCN) to speak with speech generating devices.

Kathy has presented at scores of educational conferences at both the national and international level including the International Society for Augmentative and Alternative Communication (ISAAC) Conference, the Assistive Technology Industry Association (ATIA) Conference, and the Council for Exceptional Children (CEC) Conference. Kathy has also presented her research in the area of CCN, and in the area of Universal Design for Learning (UDL), at numerous conferences in Alberta, British Columbia, and Quebec.

Shared Reading and AAC – Supporting Language AND Literacy

Caroline Musslewhite

February 24th 2022 (Video available below)

Shared reading is one component of comprehensive emergent literacy instruction.  The focus is on reading with learners, not to them.  This workshop will suggest ways to fully include students with physical impairments and students who use AAC (with primary focus on individuals with Rett Syndrome).  The session will cover classroom, small group, and 1:1 instruction.  Targets include interactive, engaging supports for goals such as vocabulary growth, text-to-self connections, and attending to print. 

Dr. Caroline Musselwhite is an assistive technology specialist with more than 45 years of experience working with children and adolescents with significant disabilities in a variety of settings, including Head Start, clinics, developmental day programs, homes, and the public schools. Dr. Musselwhite has written a number of textbooks and “how-to” books on a range of topics, and has authored many books and software programs for youth with disabilities. She has taught courses at several universities and presented thousands of workshops throughout North and South America, Australia, Europe, and Africa.  She has also supported Communication Circles and Balanced Literacy Clubs in multiple cities in the US and Canada. Honors include: Foundation Fellowship (West Virginia University), Educator of the Year 

(Association for Retarded Citizens, North Carolina), Honors of the Association, (North Carolina Augmentative Communication Association), DiCarlo Outstanding Clinician Award (North Carolina Speech-Language-Hearing Association), and ISAAC Fellow.  

Supporting Communication and Independence with Grid

Chris Gibbons and Melanie Gylling

February 25th 2022 (Video available below)

As an AAC platform, Grid software offers every chance to participate, learn, and express yourself. Join us to learn about our symbol-based communication pathways, core word strategies, and adapted keyboards. We’ll demonstrate basic editing and how every grid set is accessible from touch to eye gaze. You’ll also see how we honor every form of communication by providing access to social media, email, text, phone, web browsing, and our unique Symojis for spontaneous expression.

Chris Gibbons has worked in a variety of AAC clinical, research, and industry settings as a private practitioner, assistive technology specialist, and policy level consultant. For more than 20 years he has focused solely on advocating for and contributing to SGD user success through increased access efficiencies and by working to improve funding for SGDs. Chris is the Head of Smartbox, Inc.

Melanie Gylling (she/her) is an ASHA certified Speech-Language Pathologist with extensive experience working in a variety of settings including outpatient rehabilitation, schools, and long-term care facilities. She is passionate about AAC and providing education and support to SGD users and their support teams. Melanie is employed full-time for Smartbox Inc., the developers of Grid 3 software and speech generating device svery form of communication by providing access to social media, email, text, phone, web browsing, and our unique Symojis for spontaneous expression.

AAC: Where do I start?

Jennifer Wiegert and Corinna Duffitt

February 27th 2022 (Video available below)

If you have just received a diagnosis of Rett Syndrome for your child, or if you have taken your first steps in acquiring an AAC device and need guidance, this webinar is for you!  Join us as we discuss how to best introduce and implement AAC  – from low-tech to high tech – on a day to day basis! 

Corinna completed her graduate studies at the University of British Columbia in Vancouver, B.C., and has been a speech language pathologist for 24 years.  She has worked in health unit, public and private school settings, and has recently moved into full time private practice, Chickadee AAC, with Jennifer Wiegert as her partner.  She specializes in AAC and works almost exclusively with children and young adults with complex communication needs.  

Jennifer competed her graduate studies in speech-language pathology at Western Washington University in Bellingham, Washington.  Over the past 25 years she has provided therapy services to children and families in public and private schools (preschool through high school), a private clinic setting, and most recently on the augmentative and alternative communication (AAC) team in the Surrey School District.  Corinna and Jennifer’s passion for providing home-based services for families and their loved ones with complex communication needs, resulted in their joint private practice Chickadee AAC Communication services. 

AAC in School: Tips for Parent Advocacy

Karen Congram

March 7th 2022 (Video available below)

Are you tired of explaining Rett syndrome and AAC to each new teacher and each new support worker? Do you have a child starting school soon? Are you worried about a transition to a new school? Join us for tips and tricks for effectively communicating with school staff to help them to understand what works best for your child.

Karen Congram has years of experience as a parent of someone with Rett syndrome, advocating for best practices in schools. She is also an Ontario teacher and the Head of Special Education at Stratford District Secondary School. Previously, she was a Learning for All Coach for the Avon Maitland District School Board, providing professional development on inclusive education and universal design for learning. This year, Karen will complete her Graduate Certificate in Teaching Students with Complex Communication Needs at the University of Alberta.

Advanced Access with Eye Gaze

Charles Popperman (Tobii Dynavox)

March 11th (Video available below)

Listen and explore with the pioneers of modern eye tracking! In this session we will cover topics such as desktop accessibility, accessible applications, environmental controls, available supports, and more! Come learn about eye tracking for communication and beyond – as a tool for life. 

Charles Poeppelman works as a Solutions Consultant for the Canadian Division within Tobii Dynavox North America.  In this role, he covers a wide range of AAC-related interests for Tobii Dynavox from coast to coast across Canada and the United States.  This includes presenting at public and private trainings, supporting AAC users and their teams, and working directly with provincial and federal funding sources and our clinical partners in Canada.  By background, Charles is a certified speech-language pathologist with clinical experience working in AAC across the lifespan.

The Evolution of Inclusion

Shelly Moore

March 15 (Video available below)

In this session we will look at how the goals of inclusion have continued to shift and evolve, as we learn more about diversity and identity.

Originally from Edmonton, and now based in Vancouver, British Columbia, Shelley Moore is a highly sought-after teacher, researcher, speaker and storyteller and has worked with school districts and community organizations around the world, in supporting and promoting equity for all learners. Her first book entitled, “One Without the Other” was released in July 2016 to follow up her TEDx talk. Shelley completed an undergraduate degree in Special Education at the University of Alberta, her masters at Simon Fraser University, and is currently a PhD candidate at the University of British Columbia.

Scentsy Party

Consultant Cindy Belland-Steele has generously offered to donate her commission to O.R.S.A. if you order through her party.

It is a great way to brighten up 2022!