Osmosis from Elsevier - I Know a Zebra - ANKRD17-related neurodevelopmental syndrome, Chopra-Amiel-Gordon Syndrome (CAGS)
The speaker explains that ANKRD17-related neurodevelopmental syndrome, also known as KAGS, is a rare condition associated with symptoms like intellectual disability, autism, epilepsy, and more. The speaker's son, diagnosed with KAGS, experienced his first tonic-clonic seizure at six years old, leading to a diagnosis through whole exome sequencing. The speaker emphasizes the rarity of KAGS, with fewer than 70 known cases globally, and the need for increased awareness and genetic testing to identify more cases. They advocate for collaboration with researchers and the use of AI to discover new mutations and develop therapies. The speaker, who works for a company involved in finding cures, stresses the personal impact of the syndrome and the importance of raising awareness to drive medical advancements.
Key Points:
- KAGS is a rare neurodevelopmental syndrome with symptoms like intellectual disability and epilepsy.
- Diagnosis often involves genetic testing, such as whole exome sequencing.
- There are fewer than 70 known cases of KAGS globally, highlighting its rarity.
- Raising awareness and encouraging genetic testing can help identify more cases.
- Collaboration with researchers and AI can aid in discovering new mutations and developing therapies.
Details:
1. 🧠 Understanding KAGS and ESES
1.1. KAGS Overview
1.2. ESES Overview
2. 📋 Symptoms and Risks Associated with KAGS
2.1. Intellectual and Developmental Challenges
2.2. Physical Health Concerns
2.3. Infection and Immunity Issues
3. 👶 Discovering My Son's Condition
3.1. Diagnosis Journey
3.2. Emotional Impact and Family Adjustment
3.3. Understanding KAGS and Its Implications
4. 🔍 Raising Awareness for a Rare Syndrome
- KRD Neurodevelopmental Syndrome, also known as CAGS Epilepsy with ESES, is a recently recognized condition, highlighting the need for increased public awareness and education.
- The syndrome's symptoms include developmental delays and epilepsy, which can significantly impact the quality of life for affected individuals and their families.
- Raising awareness is crucial because many people, including those within the medical community, may not be familiar with the syndrome due to its recent recognition.
- Educational initiatives and advocacy are needed to improve diagnosis, support research, and provide resources for families dealing with the syndrome.
- Potential treatments focus on managing symptoms, but ongoing research is essential to develop more effective therapies.
- Statistics indicate that rare syndromes like KRD often face challenges in funding and research attention, underscoring the importance of advocacy and awareness campaigns.
5. 🌍 Global Impact and the Importance of Genetic Testing
- Raise awareness for KAGS, a new genetic syndrome with currently fewer than 50-70 diagnosed patients globally, indicating its ultra-rare status.
- Encourage individuals seeking answers to pursue genome testing, as new mutations and syndromes are being discovered rapidly, emphasizing the importance of early and accurate diagnosis.
- Collaboration with researchers and utilizing emerging AI tools can accelerate the discovery of cures or therapies, highlighting the potential of technology in advancing medical research.
6. 🚀 Personal Motivation and the Path Forward
- The speaker's engagement with Relics Company is driven by both professional involvement and a personal connection through their son's diagnosis, deepening their understanding and commitment to the company's mission to find a cure.
- Osmosis's 'Year of the Zebra' initiative aims to elevate rare disease awareness, with the speaker expressing strong support and eagerness to contribute.
- A belief is emphasized that significant medical breakthroughs are imminent, underscoring the critical role of increased awareness and research in achieving these advancements.