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2021 Progress Report

2021 Progress Report - Page 1


STAR: SUPPORTING AWARENESS & RESEARCH IN PURSUIT OF SALLA TREATMENT Salla Treatment and Research Foundation was founded in 2018 as a nonprofit organization dedicated to supporting and advancing Salla disease treatments, research, education, awareness, and family networks. The Foundation supports collaborative scientific research in order to accelerate the prospects for effective medical treatments for those affected with Salla. The Salla Treatment and Research Foundation is driven by an unwavering belief that no disease is too rare to fight, and that with sufficient support, hope, and faith, a small team of committed researchers, families, supporters, and advocates can create meaningful solutions for those impacted by this disease. SALLA TREATMENT AND RESEARCH FOUNDATION 2

THANK YOU! Since our launch in 2018, the Salla Treatment and Research Foundation has made tremendous progress in advancing awareness and scientific research into the ultra orphan rare disease, Salla. With the support of families and friends across the globe, we have raised over $450,000 dollars to directly support research by a growing team of researchers at preeminent institutions. To our Supporters: THANK YOU! Thank you for your words of encouragement and acts of kindness over the past 3 years. Because of you, we have made incredible strides forward to treat this disease! JESSICA FOGLIO PRESIDENT & CO-FOUNDER, We must not lose hope, but persevere amidst the chaos and uncertainty that life can hold, SALLA TREATMENT AND knowing that we are uplifted and supported by all of you. RESEARCH FOUNDATION “The man who moves a mountain begins by carrying away small stones.” - Confucius (551-479 BC) May we continue to move this mountain, one stone at a time! With deepest gratitude, JESSICA FOGLIO SALLA TREATMENT AND RESEARCH FOUNDATION ANNUAL REPORT 2021 - WWW.SALLARESEARCH.ORG SALLA TREATMENT AND RESEARCH FOUNDATION 3

RECENT HIGHLIGHTS IN 2021 We have provided direct funding to Our Research preeminent institutions Consortium researching Salla has grown from 13 to over 41 active FAMILIES ACROSS researchers THE WORLD Have organized to raise money and awareness about Salla disease SALLA TREATMENT AND RESEARCH FOUNDATION 4

SINCE 2018, STAR HAS SUPPORTED RESEARCH AT THESE THREE INSTITUTIONS NATIONAL INSTITUTES OF HEALTH ALBERT EINSTEIN Under the direction of Dr. William Gahl, Dr. Marjan COLLEGE OF Huizing, and Dr. David Adams MEDICINE Under the direction of Dr. Steven Walkley, Dr. PARIS DESCARTES Kostantin Dobrenis, and Dr. Melissa Wasserstein UNIVERSITY Under the direction of Dr. Bruno Gasnier SALLA TREATMENT AND RESEARCH FOUNDATION 5

NEW PARTNERSHIPS, MORE SCIENCE Upon the guidance from our Scientific Advisory Board, STAR recently made a $20,000 grant to fund the groundbreaking work at Greenwood Genetics Center (GGC). At GGC, they will measure the concentration of sialic acid in patients and animal models; giving them the needed biomarker in which to base efficacy of treatments. Their work will be shared with our entire consortium of 41 Doctors, and we truly feel this is a fantastic opportunity to fast-track our work! Explanation via Dr. Steve Walkley, Director of the Rose F. Kennedy Center, Albert Einstein College of Medicine SALLA TREATMENT AND RESEARCH FOUNDATION 6

OUR SCIENCE GOALS Our immediate goal is to find a treatment for free sialic acid storage disorder (FSASD) within the next 5 years. Our ultimate hope is to fully eradicate Salla disease through the use of groundbreaking gene editing technology. In April and May, the National Institutes of Health will take six Salla children to create an official natural history study. This work is crucial to create the necessary biomarkers to study therapy options and efficacy in patients. 7

STAR FAMILIES, WORKING TOGETHER In September, STAR celebrated its 3rd birthday! Families from all over the world participated by having a walk, party, activity, or simply sharing their story online. Due to COVID restrictions, some families had to get creative! Together, STAR raised almost $35,000 and it went DIRECTLY to our scientists! Our birthday celebration helped us fund the research at Greenwood Genetics Center! Thank you! DEVAN'S WALK IN TEXAS KORI & JAYLEN'S WALK IN TEXAS VIRTUAL WALK IN SWEDEN Hosted by Neil and Dipal Ratanji Hosted by the Young family Hosted by Ann and Matts Persson SALLA TREATMENT AND RESEARCH FOUNDATION 8

CONGRATS TO MAYRA SABIR AND OUR TEAM AT THE NATIONAL INSTITUTES OF HEALTH! Mayra’s work on Free Sialic Acid Storage Disorder and creating the Salla mouse model has garnered her the prestigious “Young Investigators” award. She will be presenting at the World Symposium of Rare Diseases in San Diego on February 8th, 2022, and officially placing STAR on an International Stage! Please CLICK HERE for more information SALLA TREATMENT AND RESEARCH FOUNDATION 9

OUR GROWING LIST OF RESEARCHERS # of FSASD Center Location Researchers Albert Einstein College of Medicine Bronx, NY 5 NIH-NIHGR (Human Genome) Bethesda, MD 12 NIH - NCATS (Translational Sciences) Bethesda, MD 3 NIH - NIMH (Mental Health) Bethesda, MD 2 NIH - NIDDK (Kidney Disease) Bethesda, MD 1 CHOC (Children's Hospital of Orange Orange County, CA 5 County) GGC (Greenwood Genetic Center) Greenwood, SC 2 Neural Ltd. Oulu, Lapland (Finland) 1 Universite de Paris Paris, France 2 University of Oxford Oxford, United Kingdom 1 University of California at Berkeley Berkeley, CA 2 Yale School of Medicine New Haven, CT 3 Stanford University Palo Alto, CA 1 Casma Therapeutics Cambridge, MA 1 Total Investigators 41 SALLA TREATMENT AND RESEARCH FOUNDATION 10

IN MEMORIAM: JAKE RYAN WHENHAM BY ALEASHA WHENHAM Our son Jake Ryan Whenham, who had Salla disease, died on November 8, 2021, when he was 15 years old. We would be honoured by any donations made to the STAR Foundation in Jake’s memory. After months of pain and 3 years of a slow decline in ability, Jake died peacefully at his home in Alexander, MB Canada on November 8, 2021. He was surrounded by family and love the last 2 days of his life. He lived the best life his body and mind would allow. Jake was born in Thompson, MB Canada on January 13, 2006. He moved with his family to Mitchell, MB in 2008 and then to Alexander, MB in November 2020. In his younger years there wasn’t a Tim Horton’s or pay phone that escaped his attention. His nicknames included Little Man; Butt Munch; Rooster; Mr. Jake; Jake-Jaker and ‘Just Jake’. He had a fear of missing out (FOMO) and we often told him how nosey he was. He loved to dress up in a suit. He loved the ladies and liked guy time. He loved meeting people, shaking hands and saying hi. Often, he would take the hand of 2 different people and put them together. He craved connection. We often joked that Jake was the mayor of Mitchell. He enjoyed a good party but was very clear when it was time to leave (would wave/say good-bye or get his hat). Whenever a new girlfriend or boyfriend came into the family, there was an unwritten test called the “Jake test”. If Jake approved, they were in. He was perceptive. Jake was the guy at church who noticed the nervous newcomers. He would walk to them, sit down beside them and quietly hold their hand. His work included volunteering at the compost bin in Steinbach, the annual Fall Food Drive with the Youth Group and The Manitoba Riding For Disability Flea Market, Bud Spud and Steak Night and Physiofit run. Although he didn’t have a job outside the house, he helped his dad mow the lawn and helped with household chores (especially when his aunty Roxanne was around). He was involved in Move and Groove, Steinbach United Church, Challenger Baseball, Manitoba Riding For Disability Association, Cooking Club and Music Therapy. His interests included people; family; wrestling with his parents; game shows; watching sports (despite his parents not being as interested); truck rides; side by side rides; being a wing man for his cousin; looking for deer; swimming; school; family games and eating (especially cookies, donuts and smoothies). Jake was a good sport. His parents dragged him on all sorts of adventures. These included skating on a sleigh; meeting the Governor General twice; camping; Jets games and baseball/soccer games. He travelled to British Columbia; Saskatchewan; Alberta; Ontario; North Dakota, the Ice Castles in Winnipeg, Corn Mazes and went on a Disney Cruise. SALLA TREATMENT AND RESEARCH FOUNDATION 11

CONTACT US POSTAL ADDRESS: STAR Foundation P.O. Box 115 Golden’s Bridge, New York 10526 Email: [email protected] SOCIAL MEDIA: Facebook: Instagram: LinkedIn: research-foundation Twitter: SALLA TREATMENT AND RESEARCH FOUNDATION 12