Each year on June 9, Batten Disease Awareness Day invites us to pause and acknowledge the profound challenges faced by families affected by this devastating disorder. It is a moment not only for remembrance, but for collective resolve—to deepen awareness, accelerate research, and support those searching for answers in the face of overwhelming uncertainty.
At Genomenon, we believe that awareness is not a passive gesture—it is an active commitment. Through genomic intelligence, curated data, and scientific partnership, we are dedicated to enabling progress where it is needed most.
Understanding Batten Disease: A Genetic Disorder with Devastating Impact
Batten disease refers to a group of rare, inherited neurodegenerative conditions known as neuronal ceroid lipofuscinoses (NCLs). Typically presenting in early childhood, these disorders lead to a relentless progression of symptoms—vision loss, seizures, motor and cognitive decline, and, tragically, premature death.
Among the various forms of Batten disease, juvenile Batten disease is most commonly caused by pathogenic variants in the CLN3 gene. Yet due to its rarity and symptom overlap with more common neurological conditions, diagnosis is often delayed, depriving families of crucial time and clarity.
In such contexts, genetic testing is not merely informative—it is transformative. A precise genetic diagnosis can guide medical management, facilitate access to clinical trials, and provide families with critical insights for decision-making and emotional preparedness.
Our Contribution: Enabling Discovery Through Curated Variant Data
In recognition of Batten Disease Awareness Day, Genomenon is offering complimentary access to expertly curated variant data for the CLN3 gene—the primary gene implicated in juvenile Batten disease—through our Mastermind® Genomic Intelligence Platform until June 30.
This curated content includes:
- All published variants in CLN3, with associated clinical evidence
- Interpretation of pathogenicity aligned with ACMG/AMP guidelines
- Literature-supported insights to aid variant prioritization and mechanistic understanding
Our aim is to equip researchers and clinicians with the genomic clarity required to advance therapeutic development and deepen our understanding of this disease.
Bojana Mirosavljević: A Mother's Legacy of Advocacy
The human cost of Batten disease is incalculable—but within that loss, we often find extraordinary courage.
After losing her daughter Zoja to Batten disease, Bojana Mirosavljević—Director of Patient Advocacy Strategy at ICON—transformed her grief into powerful advocacy. Determined to change the diagnostic barriers her family had faced, she led a national campaign to improve access to genetic testing and rare disease diagnostics. Her tireless work culminated in the passing of “Zoja’s Law” in 2015.
This landmark legislation established legal provisions for early diagnostic testing, including the right to send genetic samples abroad when domestic resources are insufficient. Zoja’s Law now stands as a beacon of hope for countless families, exemplifying how one voice—guided by loss but driven by love—can reshape a nation's healthcare framework.
In Conversation with Bojana Mirosavljević
We were honored to ask Bojana a few questions about her journey, her advocacy, and the enduring impact of her daughter’s legacy.
Q: Your determination led to the passing of Zoja’s Law—legislation that has transformed access to rare disease diagnostics in Serbia. What has it meant to witness the real-world impact of that change?
A: Losing my daughter Zoya to Batten disease changed my life forever. Turning that pain into purpose through Zoja’s Law was my way of ensuring no other family would feel as lost and helpless as we did. Seeing over 4,000 children receive timely diagnostics because of this law is the greatest legacy I could imagine for my daughter. It means that stories like ours now have a different ending—one that begins with answers, not confusion. It gives meaning to our loss, and hope to others.
Q: With greater access to genetic insights and global awareness growing, what gives you the most confidence that change is possible for those facing Batten disease today?
A: What gives me hope is the incredible progress in science, and the global community rallying together. We are no longer isolated cases. Families, researchers, doctors, and advocates are uniting across borders. We are speaking louder, demanding more, and believing that treatments and support systems will come—not someday, but soon. Every new diagnosis made through early testing is a step forward, and every voice raised for Batten disease makes change more inevitable.
Q: What message would you offer to other families facing a Batten diagnosis today?
A: You are not alone. I know the fear, the heartbreak, and the weight of uncertainty. But I also know the strength that love gives us. Reach out. Connect with others. Share your story. There is a growing community of people who understand, who care, and who are fighting alongside you. Even in the darkest moments, there is still space for hope, for advocacy, and for small victories that matter more than words can say.
Q: Looking ahead, what do you believe is still needed—scientifically, systemically, or emotionally—for families affected by Batten disease to truly feel supported?
A: We need earlier diagnosis through newborn screening. We need access to clinical trials and therapies—regardless of geography or socioeconomic status. We need governments to recognize that even rare diseases deserve priority. And most importantly, we need emotional and psychological support systems for families who carry the daily burden of this disease. Science is moving fast, but systems and compassion must move with it. No parent should ever feel they are walking this path alone.
Why Awareness Matters
In the world of rare diseases, awareness is a catalyst. It shortens the diagnostic odyssey, fuels investment in research, and builds communities of knowledge and compassion. Batten disease may be rare, but the urgency it demands is not.
By offering access to curated variant data, sharing the lived experiences of advocates like Bojana Mirosavljević, and fostering global collaboration, we aim to contribute meaningfully to the search for answers—and the hope of a cure.
On this Batten Disease Awareness Day, we remember those we’ve lost, stand with those still fighting, and remain steadfast in our belief: genomic clarity can change everything.
