CSNK2A1 FOUNDATION
1929 VAN NESS AVENUE, SAN FRANCISCO, CA 94109 www.csnk2a1foundation.org

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Organizations Filed Purposes: FOCUS ON FINDING A CURE FOR OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME AND ENSURING INDIVIDUALS HAVE THE OPPORTUNITIES AND SUPPORT NECESSARY FOR HAPPY AND FULL LIVES.

ON APRIL 5, 2016, LIVES WERE CHANGED FOREVER. 4 YEARS AGO, THE FIRST PAPER WAS PUBLISHED DESCRIBING A BRAND NEW SYNDROME CALLED OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME, ALSO KNOWN AS OCNDS. INITIALLY, THERE WERE 5 CHILDREN IDENTIFIED IN THE PAPER WITH OCNDS. SOON THESE 5 CHILDREN WOULD BE JOINED BY OTHERS AROUND THE WORLD. FAMILIES SEARCHING FOR YEARS FINALLY HAD AN ANSWER, A DIAGNOSIS FOR THE SYMPTOMS THAT PLAGUED THEIR LOVED ONE. HOWEVER, WHEN THEY SEARCHED THE INTERNET FOR INFORMATION ABOUT THEIR DIAGNOSIS, THEY WOULD ONLY FIND THE INITIAL PAPER. WE KNEW WE HAD TO CREATE SOMETHING FOR INDIVIDUALS TO EASILY UNDERSTAND THEIR DIAGNOSIS AND EMPOWER THEM TO BE THEIR OWN ADVOCATES. WE KNOW THAT THE MORE INFORMATION WE HAVE, THE MORE WE CAN CREATE A LIFE FOR OCNDS PATIENTS THAT IS VIBRANT, VITAL AND WORTHWHILE. IN JANUARY 2018, WE FORMED THE CSNK2A1 FOUNDATION (THE "FOUNDATION") WHICH IS FOCUSED ON FINDING A CURE FOR OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME ("OCNDS") AND ENSURING AFFECTED INDIVIDUALS HAVE THE OPPORTUNITIES AND SUPPORTS NECESSARY FOR HAPPY AND FULL LIVES. OCNDS IS CAUSED BY A MUTATION IN THE CSNK2A1 GENE WHICH IS LOCATED ON CHROMOSOME 20. THE GENE CSNK2A1 CREATES A PROTEIN CALLED CK2 WHICH PLAYS A CRUCIAL ROLE IN DEVELOPMENT. A MUTATION IN THIS GENE DISRUPTS NORMAL DEVELOPMENT. INDIVIDUALS LIVING WITH THIS SYNDROME MAY HAVE SPEECH DELAY OR THE INABILITY TO SPEAK, EPILEPSY, GLOBAL DEVELOPMENTAL DELAY, AUTISM SPECTRUM DISORDER TRAITS, STRUCTURAL ABNORMALITIES IN THE BRAIN, DIFFICULTY FEEDING AND HYPOTONIA. CSNK2A1 FOUNDATION JUST CELEBRATED THE COMPLETION OF OUR SECOND YEAR! WITH YOUR SUPPORT, WE MADE TREMENDOUS PROGRESS IN 2019. HERE ARE A FEW THINGS OUR YOUNG ORGANIZATION ACCOMPLISHED THIS YEAR!EVERY YEAR, RARE DISEASE DAY IS HELD ON THE LAST DAY OF FEBRUARY. RARE DISEASE DAY BRINGS AWARENESS TO COMMUNITIES LIKE OURS THAT ARE SMALL IN NUMBER WHO ARE OFTEN ISOLATED AND HIGHLIGHTS ISSUES THAT AFFECT THEM. IN FEBRUARY, WE LAUNCHED OUR FIRST RARE DISEASE DAY AWARENESS CAMPAIGN IN WHICH TERE CASAS, A WELL-KNOWN ARTIST FROM MEXICO, DONATED HER TIME TO HELP YOUTH IN OUR LOCAL COMMUNITY COME TOGETHER TO CREATE ONE LARGE PAINTING WHICH REPRESENTED THE KIDS' VISION OF COMMUNITY, ACCEPTANCE, INCLUSION, AND LOVE. TERE CASAS ALSO CREATED A SHORT BUT POWERFUL VIDEO OF THE EXTRAORDINARY PROCESS. WATCH AT HTTPS://WWW.CSNK2A1FOUNDATION.ORG/RARE-DISEASE-DAY-AWARENESS-PROJECT/. WE ALSO HOSTED A CELEBRATION, WHICH FEATURED THE COMMUNITY ART PIECE, ON RARE DISEASE DAY WITH OVER 100 PEOPLE IN ATTENDANCE TO BRING AWARENESS ABOUT OCNDS. ON APRIL 22, 2019, WE HOSTED THE DRIVE FOR DIAGNOSIS 2019 GOLF CLASSIC AT EL CABALLERO COUNTRY CLUB IN TARZANA, CALIFORNIA. 113 GOLFERS CAME OUT FOR OUR 1ST GOLF CLASSIC TO SUPPORT OUR COLLABORATIVE EFFORTS WITH TGEN'S CENTER FOR RARE CHILDHOOD DISORDERS TO DIAGNOSE AND CURE OCNDS. THIS TOURNAMENT PROVIDED AN INCREDIBLE OPPORTUNITY TO BRING AWARENESS TO INDIVIDUALS WHO HAD NEVER HEARD OF OCNDS AND TO INTRODUCE OUR GOLFERS TO THE GROUNDBREAKING WORK TGEN FOUNDATION IS DOING IN THE FIELD OF GENOMIC RESEARCH. WE RAISED $284,603. HALF OF THE NET PROCEEDS RAISED FUNDED THE OCNDS RESEARCH PROGRAM AT TGEN'S CENTER FOR RARE CHILDHOOD DISORDERS LED BY DR. VINODH NARAYANAN. TGEN IS AN ARIZONA-BASED NONPROFIT MEDICAL RESEARCH INSTITUTE DEDICATED TO CONDUCTING GROUNDBREAKING RESEARCH WITH LIFE-CHANGING RESULTS. TO LEARN MORE ABOUT TGEN VISIT HTTP://WWW.TGEN.ORG. THANK YOU TO OUR GOLF COMMITTEE FOR WORKING TIRELESSLY TO PUT TOGETHER SUCH A SUCCESSFUL TOURNAMENT: MICHEAL KAPLAN, JR (CO-CHAIR), J. MICHAEL GROSSMAN, JOEY BEHRSTOCK, MIKE GROSSMAN, AVISHA PATEL, AND JASON SILLS. THANK YOU TO OUR TITLE SPONSOR, PERFORMANCE TEAM, FOR LEADING THE WAY TO A RECORD-BREAKING FUNDRAISER. WE ARE INCREDIBLY GRATEFUL TO OUR MAJOR SPONSORS FOR THEIR SUPPORT AND GENEROSITY: THE DORRANCE FAMILY FOUNDATION, ALLEN & ANITA KOHL CHARITABLE FOUNDATION, DAVID & AMANDA LEBOWITZ FAMILY FOUNDATION, ANDY & ASHLEY LEBOWITZ FAMILY FOUNDATION, PINNACLE CONTRACTING CORPORATION, THE KARSH FAMILY FOUNDATION AND JOAN & CHARLIE DAVIS.OUR RESEARCH WILL ALLOW US TO MAKE A MEANINGFUL CHANGE IN MANY PEOPLE'S LIVES. CSNK2A1 GENE HAS LINKS TO DEVASTATING CHILDHOOD CANCERS, AUTISM, PARKINSON'S AND ALZHEIMER'S DISEASE. AS WE WORK AROUND THE CLOCK ON BREAKTHROUGHS, WE MAY HAVE THE ABILITY TO ALSO IMPACT THE LIVES OF THOSE WHO ARE SUFFERING FROM CANCER, AUTISM, PARKINSON'S AND ALZHEIMER'S. IN APRIL, WE WERE INVITED TO REPRESENT OCNDS AT THE WORLD ORPHAN DRUG CONFERENCE USA IN MARYLAND. THE WORLD ORPHAN DRUG CONGRESS USA FOCUSES ON THE MOST PRESSING CHALLENGES FOR RARE DISEASES. IT PROVIDED US THE OPPORTUNITY TO DISCUSS WITH OTHER RARE DISEASE LEADERS HOW TO BRING RARE DISEASE THERAPIES TO PATIENTS FASTER. IN ATTENDANCE WERE 1,200 LEADERS IN ORPHAN DRUGS FROM 50 COUNTRIES. IN SEPTEMBER, AS A MEMBER OF THE GLOBAL GENES RARE FOUNDATION ALLIANCE, WE ATTENDED THE GLOBAL GENES PATIENT ADVOCACY SUMMIT IN SAN DIEGO. THIS EVENT PROVIDED US WITH OPPORTUNITIES TO CONNECT AND ENGAGE WITH OTHER RARE DISEASE LEADERS. WE GAINED INSIGHTS ABOUT THE LATEST IN RARE DISEASE INNOVATIONS, BEST PRACTICES FOR ADVOCATING ON AN INDIVIDUAL AND ORGANIZATIONAL LEVEL, AND ACTIONABLE STRATEGIES WE CAN IMPLEMENT IMMEDIATELY TO ACCELERATE CHANGE.IN OCTOBER, WE ATTENDED THE NORD RARE SUMMIT IN WASHINGTON D.C. THE 2019 NORD RARE SUMMIT BROUGHT RARE DISEASE LEADERS TOGETHER TO DISCUSS PRIORITIZING ACTION IN ORDER TO DEVELOP STRONGER RESOURCES, BUILD BETTER OUTCOMES AND FIND CURES FOR THE MILLIONS OF PEOPLE LIVING WITH RARE DISEASES.IN 2018, DR. WENDY CHUNG AND DR. VOLKAN OKUR PROVIDED OUR COMMUNITY WITH ANSWERS TO THE MOST COMMON QUESTIONS ABOUT OCNDS. FROM THIS, WE CREATED A PRINTABLE ONE PAGE DOCUMENT CONTAINING THE MOST COMMON OCNDS QUESTIONS TO MAKE IT EASY FOR FAMILIES TO SHARE THE INFORMATION WITH FRIENDS, PROVIDERS, TEACHERS AND DOCTORS. CURRENTLY VERY LITTLE IS KNOWN ABOUT OCNDS SO THIS DOCUMENT SERVES AS A LIFELINE TO THOSE SUFFERING FROM OCNDS AND THEIR FAMILIES. IT HELPS PATIENTS AND THEIR FAMILIES EASILY UNDERSTAND THE DIAGNOSIS AND PROVIDES RECOMMENDATIONS FOR CARE. THIS YEAR, WE TRANSLATED THIS ONE PAGE DOCUMENT INTO 4 LANGUAGES: GERMAN, FRENCH, ITALIAN AND SPANISH WHICH ARE AVAILABLE ON OUR WEBSITE - HTTPS://WWW.CSNK2A1FOUNDATION.ORG/FAQS/ THANK YOU TO DR. HEIKE REBHOLZ AND DR. JESUS SAUCEDO FOR TRANSLATING THIS INCREDIBLY IMPORTANT INFORMATION FOR OUR COMMUNITY. IN DECEMBER, WE TRAVELED TO FRANCE TO VISIT DR. HEIKE REBHOLZ, WHO IS LEADING OUR MULTI YEAR BIOCHEMISTRY STUDY AT THE INSTITUTE DE PSYCHIATRIE ET NEUROSCIENCES DE PARIS. WE VISITED HER IN THE LAB TO GET AN UPDATE ON HER CURRENT OCNDS RESEARCH PROJECT. WE ALSO HAD THE PLEASURE OF MEETING SOME FRENCH OCNDS FAMILIES. WE THEN TRAVELED TO THE NETHERLANDS AND THE UNITED KINGDOM TO MEET WITH OCNDS FAMILIES. WHILE IN THE NETHERLANDS, WE ALSO MET WITH EXCEPTIONAL DOCTORS WHO ARE COMMITTED TO HELPING OCNDS PATIENTS AND THEIR FAMILIES. READ MORE ABOUT OUR VISIT HERE: HTTPS://WWW.CSNK2A1FOUNDATION.ORG/6-DAYS-IN-THE-LIFE-OF-OUR-FOUNDATION-AND-OUR-QUEST-FOR-ANSWERS/ THESE VISITS PROVED TO BE AN INCREDIBLY VALUABLE LEARNING LESSON. AS WE HEARD ABOUT CHALLENGES AND STRUGGLES OUR FAMILIES ARE ENDURING, WE REALIZED THAT SOME STRUGGLES ARE SPECIFIC ONLY TO CERTAIN COUNTRIES OR REGIONS. FOR EXAMPLE, WE LEARNED ABOUT THE DISABLED TOILET KEY IN THE UK. DISABLED TOILETS ARE COMMONPLACE IN THE UK BUT OFTEN THEY ARE KEPT LOCKED TO ENSURE THEY CAN ONLY BE USED BY PEOPLE WHO NEED THEM. THIS CAN BECOME A PROBLEM IF A MEMBER OF STAFF IS NOT ON HAND WITH THE KEY WHEN YOU NEED IT OR THE STAFF MEMBER CAN'T FIND THE KEY. SOME OF OUR PATIENTS STRUGGLE WITH TOILETING AND REQUIRE ASSISTANCE. SOME FAMILIES STAY HOME FOR FEAR OF HAVING TO FACE THESE ISSUES. OTHERS HAVE PURCHASED A DISABLED TOILET KEY WHICH CAN BE FOUND ON AMAZON. WE LEARNED SOME FAMILIES MAY NOT KNOW THAT THE KEY CAN BE PURCHASED ON AMAZON. WE DECIDED WITH OUR FAMILIES IN THE UK, NETHERLANDS AND FRANCE TO LAUNCH A WORLDWIDE PROGRAM OF RESOURCE AMBASSADORS WHICH WILL BE IN CHARGE OF GATHERING RESOURCES FOR EACH COUNTRY, LENDING A LISTENING EAR TO THE FELLOW COUNTRYMEN AND ORGANIZING INFORMAL ANNUAL GATHERINGS FOR FAMILIES TO STAY CONNECTED. WE NEED RESOURCE AMBASSADORS TO HELP EDUCATE AND GUIDE OUR FAMILIES AS THEY HAVE BEEN UNEXPECTEDLY THROWN INTO THIS WORLD OF RARE DISEASE. WE ARE EXCITED TO WORK ON THIS PROGRAM IN 2020.DR. WENDY CHUNG, WHO SERVES ON OUR SCIENTIFIC ADVISORY BOARD, SUGGESTED WE COLLABORATE WITH PATIENTS WHO HAVE A MUTATION ON THE CSNK2B GENE AS EACH GROUP'S RESEARCH COULD BE MUTUALLY BENEFICIAL. WHILE VISITING THE NETHERLANDS, WE MET WITH SOME FAMILIES AFFECTED BY A MUTATION IN THE CSNK2B GENE TO LEARN MORE ABOUT THEIR SYMPTOMS, THEIR GOALS AS A GROUP AND POSSIBLE WAYS WE CAN COLLABORATE. IT WAS A FRUITFUL FIRST MEETING AND WE ARE LOOKING FORWARD TO COLLABORATING IN THE FUTURE. GIVING TUESDAY IS THE FIR

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