Return to flip book view

ANNUAL REPORT22002233

Letter from the Board of DirectorsBoard of DirectorsPresidentPaul JacobiFriendVice PresidentDeborah CurryGrandparentSecretaryCatherine TolmanParentTreasurerKaren KeyParentDirectorsAdero AllisonFriendAdam BatchelorParentLaura ChrysostomoParentKatie FinebergParentFelisha NorringtonFriendSandor PiszarParentJohn SellParentAl TriunfoGrandparent

In April 2023, a 40-year-old suburban momchallenged herself to make 1,000 free throwsfor MWS. The event was held in Woodstock,GA, and raised over $20K!Ultra Niagara 500-Mile Challenge - anincredible journey that took place in theSummer. Seven dedicated cyclists rodefrom Niagara Falls to Brewster, NY, overfive days, covering up to 100 miles eachday. This inspiring 500-mile bike rideraised over $18K!Rock Town Racers raised over $2K at the LoveRun Philly half marathon and dedicated everymile to Harper Batchelor and family.Run any distance, anywhere!Annual Awareness & Fundraising EventDuring the month of October 2023,many families around the world heldfundraising walks and runs and togetherthey raised over $11K.Going the Distance for MWSContact MWSF at jeanettemay@mowat-wilson.org if you are interested in hosting an event in 2024.

MWSF Funded Research UpdateWith support from community fundraisers, MWSF has awarded over $143,000 to selectedresearch projects. In 2024, the foundation will award an additional $50,000 as well. We arepleased to provide the update below.Genetic and cellular interactions in Mowat-Wilson Syndromepatients with and without Hirschsprung disease This grant aims to understand the genetic basis of the cellularchanges observed in patients with Mowat Wilson syndrome (MWS)who also have Hirschsprung disease (HSCR) and other digestiveissues. During the research, which is believed to have beenperformed for the first time for ZEB2 mutations, researchers createdthe MWS specific ZEB2 mutation (Lys284Asnfs* 30) in the humanES cells and have derived enteric neurons. The data suggest thatnormally ZEB2 expresses mostly in the nitrergic neurons but havingthe specific MWS mutation leads to the gene being expressed incholinergic neurons. Thus, there is a shift in where the geneexpresses leading to disruption in the enteric nervous system Epilepsy and MWSAim 1 – Track the occurrence of electrical status epilepticus ofsleep (ESES) and seizures in patients with MWS according to ageAim 2 – Examine developmental outcomes in patients with MWSby ageAim 3 – Evaluate associations between ESES and seizures,developmental outcomes, and response to therapyResearchers have successfully enrolled and obtained informedconsent from a total of 28 people diagnosed with Mowat-Wilsonsyndrome, including international patients. Researchers arecurrently in the process of screening and obtaining consents fromparticipants for their participation and submitted medical data,EEG data, and Vineland data into the Redcap database.

ZEB2 and Vocal LimitationThe researchers work has demonstrated high levels of ZEB2protein in key brain areas for songbird vocal communications,which share many parallels with the brain circuitry for humanspeech (Figure 1). Disruption of ZEB2 in Mowat-WilsonSyndrome patients can lead to great difficulty in the productionof learned speech sounds, and we hypothesized that ZEB2could serve a similar role in the brains of young songbirds. Totest this idea, the researchers set out to develop a viral vector-based knockdown approach to disrupt ZEB2 expression in thedeveloping zebra finch and assess effects on song production,neural connectivity, and gene expressionExamining neurological disability in Mowat-Wilsonsyndrome using brain organoids The goal of this research is to establish a brain organoid system for thestudy of neurological disability in Mowat-Wilson syndrome. Through thisproject, the researchers aim to couple Mowat-Wilson syndrome patientinduced pluripotent stem cells with brain organoids to examine themolecular changes during brain development in Mowat-Wilsonsyndrome. This novel project is expected to form a strong basis forfederal grant applications.In the prior reporting period, after testing several commercially available antibodies, researchersdetermined that one reliably detects ZEB2 protein in zebra finch brain samples, a key step for verifyingwhether or not they are capable of knocking down its expressionIn the past year, the researchers demonstrated that a human neuronal-like cell line, termed SY5Ycells, robustly expresses readily detectable levels of ZEB2, providing a more easily propagatedbiological source than the B2B cells with which to validate their constructs prior to designing a virus forin vivo knockdown. The researchers have now tested 3 targeting antisense constructs and one nontargeting construct in two separate experiments using lipofection to introduce the plasmids into theSY5Y cells. Each time, the first of the 3 targeting constructs, construct #1, substantially attenuatedZEB2 levels in SY5Y cells relative to controls and the other constructs.

The Medical Advisory Board of the Mowat-Wilson Syndrome Foundation is a group of clinical researchers who are amongthe most respected and experienced in their fields. All are currently practicing physicians who can also be affiliated withan academic institution. Members of the Medical Advisory Board are appointed by the Boards of Directors and act in anadvisory capacity in medical matters related to Mowat-Wilson Syndrome.Medical Advisory Board2023-2024 Officers Community Advisory BoardJoy Pachucki - Chair“I volunteer with the CAB because spreading awareness of MWS andconnecting with our MWSF community is the key to a better future for ourMWS kiddos.” Carrie Dolwick“I volunteer for the Community Advisory Board to provide the voice andexperience as a MWS parent to the foundation as they continue to centerfamilies in the work.”Shelley Clarke“I volunteer for MWS CAB because it connects me to the rest of the MWSworld and allows me to feel I am helping to make a difference.”Jennifer Farrell“I volunteer for the CAB because I love being a part of a group whose lives aresimilar to mine and who get what all of this is like.”Kim Mellenthin“After raising my daughter for more than 20 years with out appropriatesupports from those with first hand knowledge and expertise, I don't wantothers to have to endure the same experience. CAB gives me ability to sharemy experiences, perspectives, and the knowledge I have gained raising Lizwith others to hopefully make their journey a little lighter, and increase theamount of time they have to create joy in their lives.”Shelley Veats“The reason that I volunteer with MWSF is because I am continuouslylearning (from our 39-year-old son) about his experience living withMWS. Joining this committee gives me the ability to share thisexperience with others while learning how to better promote theawareness of this rare condition.”Melissa Batchelor“I volunteer because I cannot imagine any better way to spend mytime than serving as a volunteer for the most important organization inmy family's life.”Carolina Foresti“To give back to our community and help more families like us.”Katie Fineberg“I have been on the board now since 2015 and the reason I truly lovebeing a part of this board because we are doing so many good thingsand continue to try and figure out what we can do better or what wecan improve. Being the parent of a special needs child is not easy andbeing on this board gives me a comfort that I/we are not alone, and weare all in this journey together.”Why do you volunteer your time to MWSF?Erin Hawthorne“The feeling of knowing that we are improving the community andproviding support to the families.”Meredith Wilson, MDClinical Associate ProfessorCHW Department of Clinical GeneticsThe Children’s Hospital at WestmeadHawkesbury Rd., & Hainsworth St.Westmead NSWMerlin Butler, MD, PHd, FFACMG - ChairProfessor of Psychiatry, Behavioral Sciences and PediatricsABMG Certified Clinical Geneticist and Clinical CytogeneticistDepartments of Psychiatry & Behavioral Sciences and PediatricsKansas University Medical CenterBelinda Dickie, MD, PhDAssistant in Surgery, Co-Director, Colorectaland Pelvic Malformation CenterPediatric SurgeonAssistant Professor, Harvard Medical SchoolJose M. Garza, MD, MSGI Care for KidsMedical Director, Neurogastroenterology and MotilityChildren’s Healthcare of AtlantaMargaret Adam, MD, FAAP, FACMGAssociate Professor of PediatricsDivision of Medical GeneticsUniversity of Washington School of MedicineDavid Mowat, MBBS, MRCGP, DRACOG, FRACPSenior Staff SpecialistClinical GeneticistSydney Children’s HospitalJay L. Vivian, PhDAssociate Research ProfessorDepartment of Pathology and Laboratory MedicineUniversity of Kansas Medical CenterJohn M. Schreiber, MD, FAESChild Neurologist, Neurophysiologist, and EpileptologistChildren’s National Health System and Pediatric SpecialistsJohn Graham, MDPediatrician and Medical GeneticistProfessor of Pediatrics Emeritus Lifetime AppointmentDavid Geffen School of Medicine, UCLA

Mowat-Wilson Syndrome FoundationIncome Total = $197,567Non-Designated Donations: $45,289Promotional Sales: $507RunforMWS Fundraiser: $4,537In Memoriam: $3,046MWS Research: $5,924Giving Tuesday Fundraiser: $71,033Rare Disease Day Fundraiser: $384Run for MWS Fundraiser: $3,345Logan’s Free Throws: $32,637Rock Town Racers for MWSF: $3,177Rare Disease Day Campaign: $1,536Ride for MWS Fundraiser: $18,562Marathon Fundraiser: $3,812MWSF Endowment Campaign: $3,778Operating: $48,230Fundraising: $6,991Professional Fees: $11,998Travel: $582Expenses Total = $67,800IncomeExpenses

Donate Today!Join us in making a difference! Your support can change lives. DonateJoin us in making a difference! Your support can change lives. DonateJoin us in making a difference! Your support can change lives. Donatetoday to the Mowat-Wilson Syndrome Foundation and help enhancetoday to the Mowat-Wilson Syndrome Foundation and help enhancetoday to the Mowat-Wilson Syndrome Foundation and help enhancethe lives of those affected by this condition. Together, we can providethe lives of those affected by this condition. Together, we can providethe lives of those affected by this condition. Together, we can providevital family support, raise awareness, and fuel crucial research andvital family support, raise awareness, and fuel crucial research andvital family support, raise awareness, and fuel crucial research andeducation initiatives. Every contribution counts towards creating aeducation initiatives. Every contribution counts towards creating aeducation initiatives. Every contribution counts towards creating abrighter future for individuals with Mowat-Wilson Syndrome.brighter future for individuals with Mowat-Wilson Syndrome.brighter future for individuals with Mowat-Wilson Syndrome. Together, we are stronger!Together, we are stronger!Together, we are stronger!