Genetics and Genomic Medicine Center - GGMC

07/10/2025

🧠 𝐌𝐚𝐩𝐩𝐢𝐧𝐠 𝐭𝐡𝐞 𝐇𝐮𝐦𝐚𝐧 𝐁𝐫𝐚𝐢𝐧 𝐭𝐡𝐫𝐨𝐮𝐠𝐡 𝐒𝐢𝐧𝐠𝐥𝐞-𝐂𝐞𝐥𝐥 𝐓𝐫𝐚𝐧𝐬𝐜𝐫𝐢𝐩𝐭𝐨𝐦𝐢𝐜𝐬!

The human brain is one of the most complex biological systems, made up of diverse cell types that control our thoughts, emotions, and behavior. Through single-cell transcriptomics, scientists are now able to study each of these cell types at an unprecedented resolution, revealing how they function, interact, and contribute to neurological diseases.

Congratulations to the first author 𝐃𝐫. 𝐀𝐧𝐣𝐚𝐧𝐚 𝐒𝐨𝐨𝐫𝐚𝐣𝐤𝐮𝐦𝐚𝐫 and team for this impactful review highlighting how single-cell data are transforming brain research.

We are also proud of our founder, 𝐃𝐫. 𝐌𝐨𝐡𝐚𝐦𝐦𝐞𝐝 𝐔𝐝𝐝𝐢𝐧 𝐃𝐚𝐟𝐢𝐥, for his remarkable contributions to this study on brain cell diversity and disease mechanisms. His pioneering work in mapping genetic and cellular variations continues to shape brain research globally.

At 𝐍𝐞𝐮𝐫𝐨𝐆𝐞𝐧 𝐇𝐞𝐚𝐥𝐭𝐡𝐜𝐚𝐫𝐞 and Genetics and Genomic Medicine Center - GGMC, we take pride in being part of the global effort to decode the human brain, from understanding neurogenesis to identifying disease-linked cell types.

Full paper link: https://www.nature.com/articles/s41398-025-03562-6

04/10/2025

𝐎𝐜𝐭𝐨𝐛𝐞𝐫 𝐀𝐰𝐚𝐫𝐞𝐧𝐞𝐬𝐬: 𝐃𝐞𝐝𝐢𝐜𝐚𝐭𝐞𝐝 𝐁𝐑𝐂𝐀𝟏 & 𝐁𝐑𝐂𝐀𝟐 𝐆𝐞𝐧𝐞 𝐓𝐞𝐬𝐭𝐢𝐧𝐠 𝐏𝐚𝐧𝐞𝐥 𝐟𝐨𝐫 𝐁𝐫𝐞𝐚𝐬𝐭 𝐂𝐚𝐧𝐜𝐞𝐫 𝐑𝐢𝐬𝐤 🎗️ 🩸 🧬

🎗️ 𝐁𝐑𝐂𝐀𝟏 (𝐁𝐑𝐞𝐚𝐬𝐭 𝐂𝐀𝐧𝐜𝐞𝐫 𝐠𝐞𝐧𝐞 𝟏) 𝐚𝐧𝐝 𝐁𝐑𝐂𝐀𝟐 (𝐁𝐑𝐞𝐚𝐬𝐭 𝐂𝐀𝐧𝐜𝐞𝐫 𝐠𝐞𝐧𝐞 𝟐) are crucial genes for DNA repair. Harmful mutations in these genes increase the risk of 𝐇𝐞𝐫𝐞𝐝𝐢𝐭𝐚𝐫𝐲 𝐁𝐫𝐞𝐚𝐬𝐭 𝐚𝐧𝐝 𝐎𝐯𝐚𝐫𝐢𝐚𝐧 𝐂𝐚𝐧𝐜𝐞𝐫 (𝐇𝐁𝐎𝐂) and several other cancers.

🎗️ 𝑩𝑹𝑪𝑨1/𝑩𝑹𝑪𝑨2 mutation carriers may have a lifetime risk of 𝐛𝐫𝐞𝐚𝐬𝐭 𝐜𝐚𝐧𝐜𝐞𝐫 𝐮𝐩 𝐭𝐨 𝟖𝟒% 𝐚𝐧𝐝 𝐨𝐯𝐚𝐫𝐢𝐚𝐧 𝐜𝐚𝐧𝐜𝐞𝐫 𝐮𝐩 𝐭𝐨 𝟑𝟗%. (PMID: 25224030)

🔴 𝐖𝐡𝐲 𝐭𝐡𝐢𝐬 𝐭𝐞𝐬𝐭?
Mutations in BRCA1/BRCA2 genes can:
🧍‍♀️ Significantly increase the risk of breast & ovarian cancer in women
🧍‍♂️ Raise the risk of prostate, pancreatic & male breast cancer in men
🩺 Influence treatment decisions (e.g., eligibility for PARP inhibitors)

🔴 𝐖𝐡𝐨 𝐬𝐡𝐨𝐮𝐥𝐝 𝐜𝐨𝐧𝐬𝐢𝐝𝐞𝐫 𝐭𝐞𝐬𝐭𝐢𝐧𝐠?
👉 Individuals diagnosed with breast or ovarian cancer at a young age
👉 Families with multiple cases of breast, ovarian, prostate, or pancreatic cancer
👉 Relatives of confirmed BRCA mutation carriers (for cascade testing)

🔴 𝐁𝐞𝐧𝐞𝐟𝐢𝐭𝐬 𝐨𝐟 𝐭𝐞𝐬𝐭𝐢𝐧𝐠:
👉 Helps design personalized screening & prevention strategies
👉 Guides decisions on risk-reducing surgery
👉 Supports selection of targeted therapy
👉 Facilitates family testing & genetic counseling

► At GGMC, every step is performed with meticulous care and expertise — from sample preparation to sequencing, data analysis, and final reporting.
📊 With 10 years of experience, GGMC has completed 1000+ genetic tests and 800+ rare disease diagnoses, ensuring reliable results at every step.

📞 NeuroGen Healthcare
🌐 www.neurogenbd.com

📱 Phone: 01787662575
📍 Eastern Dolan, Level - 4 (3rd Floor),
152/2-H, Bir Uttam Kazi Nuruzzaman Sarak,
West Panthapath, Green Road, Dhaka - 1205, Bangladesh

28/09/2025

Our brilliant 𝗦𝗰𝗶𝗲𝗻𝘁𝗶𝗳𝗶𝗰 𝗢𝗳𝗳𝗶𝗰𝗲𝗿, 𝐀𝐭𝐡𝐨𝐢 𝐆𝐚𝐧𝐠𝐮𝐥𝐲 has been awarded 𝐂𝐡𝐚𝐦𝐩𝐢𝐨𝐧 𝐢𝐧 𝐏𝐨𝐬𝐭𝐞𝐫 𝐏𝐫𝐞𝐬𝐞𝐧𝐭𝐚𝐭𝐢𝐨𝐧 𝐚𝐭 𝐭𝐡𝐞 𝐆𝐍𝐎𝐁𝐁 𝟔𝐭𝐡 𝐈𝐧𝐭𝐞𝐫𝐧𝐚𝐭𝐢𝐨𝐧𝐚𝐥 𝐂𝐨𝐧𝐟𝐞𝐫𝐞𝐧𝐜𝐞 𝐨𝐧 𝐁𝐢𝐨𝐭𝐞𝐜𝐡𝐧𝐨𝐥𝐨𝐠𝐲 𝐢𝐧 𝐇𝐞𝐚𝐥𝐭𝐡 & 𝐀𝐠𝐫𝐢𝐜𝐮𝐥𝐭𝐮𝐫𝐞 𝟐𝟎𝟐𝟓, held at Sher-e-Bangla Agricultural University (SAU). 🎉🌍🧬

Her poster on “𝑫𝒆𝒕𝒆𝒄𝒕𝒊𝒐𝒏 𝒐𝒇 𝑵𝒆𝒖𝒓𝒐𝒅𝒆𝒗𝒆𝒍𝒐𝒑𝒎𝒆𝒏𝒕𝒂𝒍 𝑫𝒊𝒔𝒐𝒓𝒅𝒆𝒓-𝒂𝒔𝒔𝒐𝒄𝒊𝒂𝒕𝒆𝒅 𝑫𝒆 𝒏𝒐𝒗𝒐 𝒂𝒏𝒅 𝑹𝒂𝒓𝒆 𝑽𝒂𝒓𝒊𝒂𝒏𝒕𝒔 𝒕𝒉𝒓𝒐𝒖𝒈𝒉 𝑻𝒓𝒊𝒐-𝑾𝒉𝒐𝒍𝒆 𝑬𝒙𝒐𝒎𝒆 𝑺𝒆𝒒𝒖𝒆𝒏𝒄𝒊𝒏𝒈” received high recognition. 👨‍👩‍👦

This study explored the genetic causes of Neurodevelopmental Disorders (NDDs) using 𝐓𝐫𝐢𝐨-𝐖𝐡𝐨𝐥𝐞 𝐄𝐱𝐨𝐦𝐞 𝐒𝐞𝐪𝐮𝐞𝐧𝐜𝐢𝐧𝐠 (𝐖𝐄𝐒). By analyzing 14 families, the research identified both de novo and rare inherited variants, achieving a 𝐝𝐢𝐚𝐠𝐧𝐨𝐬𝐭𝐢𝐜 𝐲𝐢𝐞𝐥𝐝 𝐨𝐟 𝟔𝟒.𝟑%. These findings highlight the effectiveness of trio-WES in uncovering the genetic basis of NDDs and refining variant interpretation for clinical accuracy.
𝘾𝒐𝙣𝒈𝙧𝒂𝙩𝒖𝙡𝒂𝙩𝒊𝙤𝒏𝙨, 𝑨𝙩𝒉𝙤𝒊! 💐
We are truly proud of your hard work and dedication, and grateful that you showcased NeuroGen and GGMC's research so confidently on such a prestigious platform. 💙

At NeuroGen Healthcare and Genetics and Genomic Medicine Center - GGMC, we aspire to bring forward more such impactful studies in the field of genetics. With the growing interest in human genetics among clinicians, scientists, and science enthusiasts, we are committed to contributing meaningfully to this evolving field. 🌍🧬

21/09/2025

𝐃𝐢𝐠𝐢𝐭𝐚𝐥 𝐌𝐚𝐫𝐤𝐞𝐭𝐢𝐧𝐠 & 𝐆𝐫𝐚𝐩𝐡𝐢𝐜𝐬 𝐃𝐞𝐬𝐢𝐠𝐧 𝐒𝐩𝐞𝐜𝐢𝐚𝐥𝐢𝐬𝐭
📍 Job Location: Eastern Dolan, Level - 4 (3rd Floor), 152/2-H, Bir Uttam Kazi Nuruzzaman Sarak, West Panthapath, Green Road, Dhaka - 1205, Bangladesh

🧬𝐉𝐨𝐢𝐧 𝐭𝐡𝐞 𝐟𝐫𝐨𝐧𝐭𝐢𝐞𝐫 𝐨𝐟 𝐍𝐞𝐮𝐫𝐨𝐆𝐞𝐧 𝐇𝐞𝐚𝐥𝐭𝐡𝐜𝐚𝐫𝐞 𝐋𝐭𝐝:
Our company is part of the fast-growing health tech company transforming the landscape of rare disease and cancer diagnosis using AI-powered genomic insights. We are looking for a creative and driven Digital Marketing & Graphics Design Specialist to help us communicate our innovations to the world.

𝐉𝐨𝐛 𝐑𝐞𝐬𝐩𝐨𝐧𝐬𝐢𝐛𝐢𝐥𝐢𝐭𝐢𝐞𝐬:
· Design engaging visual content: images, infographics, short-form videos, and presentations that reflect our mission and platform capabilities.
· Develop brand-consistent graphics for website, email, and social media.
· Translate complex genomic and AI concepts into simple, visually appealing graphics.
· Support internal teams with creative materials (brochures, decks, banners, etc.).
· Plan and execute campaigns across LinkedIn, Twitter/X, Instagram, Google Ads, and YouTube.
· Manage website content, newsletters, and social channels with a consistent brand voice.
· Create copy and visuals for ads, posts, and client communications.
· Reach out to potential clients and collaborators with clear, concise, and compelling messaging.

𝐑𝐞𝐪𝐮𝐢𝐫𝐞𝐦𝐞𝐧𝐭𝐬:
-Bachelor’s degree in Marketing, Design, Communication, or a related field.
-Strong visual storytelling and design skills (Adobe Creative Suite, Canva, Figma or similar).
-Experience in creating short-form videos, reels, motion graphics and image-based marketing content
-Excellent written and spoken English; able to explain technical ideas clearly to a broad audience.
-Comfortable reaching out to clients or researchers to explain platform and solutions.
-Passionate about science, healthcare, or technology.
-The ability to handle dozens of opportunities in parallel.

𝐒𝐭𝐚𝐫𝐭𝐢𝐧𝐠 𝐒𝐚𝐥𝐚𝐫𝐲: 𝟐𝟎𝐊

𝐓𝐨 𝐀𝐩𝐩𝐥𝐲:
Tell us on why you’re the right person for the job: send your resume and the reasons why we should hire you to 𝒄𝒂𝒓𝒆𝒆𝒓@𝒏𝒆𝒖𝒓𝒐𝒈𝒆𝒏𝒃𝒅.𝒄𝒐𝒎

21/09/2025

𝐋𝐢𝐛𝐫𝐚𝐫𝐲 𝐏𝐫𝐞𝐩𝐚𝐫𝐚𝐭𝐢𝐨𝐧 𝐢𝐧 𝐌𝐆𝐈 𝐃𝐍𝐁𝐒𝐄𝐐-𝐆𝟓𝟎 𝐏𝐥𝐚𝐭𝐟𝐨𝐫𝐦 𝐟𝐨𝐫 𝐖𝐡𝐨𝐥𝐞 𝐄𝐱𝐨𝐦𝐞 𝐒𝐞𝐪𝐮𝐞𝐧𝐜𝐢𝐧𝐠!

𝐖𝐡𝐲 𝐢𝐭 𝐢𝐬 𝐝𝐨𝐧𝐞: Library preparation is the first and most critical step in sequencing. In this process, genomic DNA is fragmented and specialized adapters are attached. These adapters allow the sequencer to recognize, amplify, and accurately read the genetic material.

𝐖𝐡𝐲 𝐆𝐞𝐧𝐞𝐭𝐢𝐜 𝐓𝐞𝐬𝐭𝐬 𝐭𝐚𝐤𝐞 𝐭𝐢𝐦𝐞: Many people wonder why genetic tests take longer than routine tests. One major reason is the careful preparation and precision required before sequencing even starts. Each sample goes through multiple preparation and quality-control stages. This attention to detail is essential to deliver reliable, clinically valid results, so the process naturally takes more time.

✨ At NeuroGen Healthcare’s Genetics and Genomic Medicine Center - GGMC, our 𝐒𝐜𝐢𝐞𝐧𝐭𝐢𝐟𝐢𝐜 𝐎𝐟𝐟𝐢𝐜𝐞𝐫 & 𝐐𝐮𝐚𝐥𝐢𝐭𝐲 𝐂𝐨𝐧𝐭𝐫𝐨𝐥 𝐌𝐚𝐧𝐚𝐠𝐞𝐫, 𝐅𝐚𝐫𝐣𝐚𝐧𝐚 𝐁𝐢𝐧𝐭𝐚 𝐎𝐦𝐚𝐫, is handling these steps with great care and efficiency on a regular basis, ensuring the accuracy and reliability of our sequencing results. Currently, in Bangladesh, genetic testing is available only at our GGMC laboratory.

18/09/2025

Today at Genetics and Genomic Medicine Center - GGMC, we had the honor of welcoming esteemed guests from the 𝐏𝐞𝐝𝐢𝐚𝐭𝐫𝐢𝐜 𝐆𝐚𝐬𝐭𝐫𝐨𝐞𝐧𝐭𝐞𝐫𝐨𝐥𝐨𝐠𝐲 𝐃𝐞𝐩𝐚𝐫𝐭𝐦𝐞𝐧𝐭 𝐨𝐟 𝐁𝐚𝐧𝐠𝐥𝐚𝐝𝐞𝐬𝐡 𝐌𝐞𝐝𝐢𝐜𝐚𝐥 𝐔𝐧𝐢𝐯𝐞𝐫𝐬𝐢𝐭𝐲.

Our respected 𝐃𝐢𝐫𝐞𝐜𝐭𝐨𝐫, 𝐃𝐫. 𝐇𝐨𝐬𝐧𝐞𝐚𝐫𝐚 𝐀𝐤𝐭𝐞𝐫, delivered a wonderful presentation on “𝑮𝒆𝒏𝒐𝒎𝒊𝒄 𝑴𝒆𝒅𝒊𝒄𝒊𝒏𝒆 𝒊𝒏 𝑮𝒂𝒔𝒕𝒓𝒐𝒆𝒏𝒕𝒆𝒓𝒐𝒍𝒐𝒈𝒚: 𝑪𝒖𝒓𝒓𝒆𝒏𝒕 𝑻𝒓𝒆𝒏𝒅𝒔 𝒂𝒏𝒅 𝑭𝒖𝒕𝒖𝒓𝒆 𝑷𝒆𝒓𝒔𝒑𝒆𝒄𝒕𝒊𝒗𝒆𝒔.” She highlighted how 𝟐𝟎–𝟑𝟎% 𝐨𝐟 𝐩𝐞𝐝𝐢𝐚𝐭𝐫𝐢𝐜 𝐠𝐚𝐬𝐭𝐫𝐨𝐢𝐧𝐭𝐞𝐬𝐭𝐢𝐧𝐚𝐥 𝐝𝐢𝐬𝐨𝐫𝐝𝐞𝐫𝐬 𝐡𝐚𝐯𝐞 𝐚 𝐠𝐞𝐧𝐞𝐭𝐢𝐜 𝐛𝐚𝐬𝐢𝐬, underscoring the value of genetic evaluation for early diagnosis and intervention.

Dr. Hosneara Akter also presented the various genetic diagnostic approaches that can help identify these conditions at an early stage, allowing timely management and better outcomes.

In our GGMC lab, we have so far observed genetic involvement in the following cases:
𝟓𝟔% 𝒐𝒇 𝑯𝒆𝒑𝒂𝒕𝒐𝒎𝒆𝒈𝒂𝒍𝒚 𝒄𝒂𝒔𝒆𝒔
𝟑𝟏% 𝒐𝒇 𝑺𝒑𝒍𝒆𝒏𝒐𝒎𝒆𝒈𝒂𝒍𝒚 𝒄𝒂𝒔𝒆𝒔
𝟐𝟓% 𝒐𝒇 𝑷𝒂𝒏𝒄𝒓𝒆𝒂𝒕𝒊𝒕𝒊𝒔 𝒄𝒂𝒔𝒆𝒔

This seminar created a meaningful platform to discuss how integrating genomic medicine into pediatric gastroenterology can transform patient care and improve long-term health outcomes.

13/09/2025

𝐂𝐡𝐚𝐥𝐥𝐞𝐧𝐠𝐢𝐧𝐠 𝐋𝐢𝐦𝐢𝐭𝐬: 𝐀 𝐋𝐚𝐰𝐲𝐞𝐫 𝐰𝐢𝐭𝐡 𝐃𝐨𝐰𝐧 𝐒𝐲𝐧𝐝𝐫𝐨𝐦𝐞!

Ana Victoria, a 25-year-old from Zacatecas, Mexico, has achieved the milestone of becoming the world’s first lawyer with Down syndrome. She earned her law degree through determination, tailored educational support, and a strong network of mentors, breaking barriers and setting an example in a profession where few with genetic disorders have walked before.

Her journey is a powerful reminder that having Down syndrome does not limit one’s potential. With proper guidance, accommodations, and belief in their abilities, individuals with genetic disorders can reach extraordinary goals. Ana Victoria’s success exemplifies how inclusive education and support can make what once seemed impossible, possible.

Learn more: https://blcn.com.br/en/2024/12/03/meet-ana-victoria-espino-de-santiago-the-worlds-first-lawyer-with-down-syndrome/

https://thebigsmoke.com.au/2024/09/05/redefining-possible-ana-victoria-espinos-triumph-as-the-first-lawyer-with-down-syndrome/

07/09/2025

🌍𝗪𝗼𝗿𝗹𝗱 𝗗𝘂𝗰𝗵𝗲𝗻𝗻𝗲 𝗔𝘄𝗮𝗿𝗲𝗻𝗲𝘀𝘀 𝗗𝗮𝘆 | 𝗦𝗲𝗽𝘁𝗲𝗺𝗯𝗲𝗿 𝟳
Duchenne Muscular Dystrophy (DMD) is one of the most devastating genetic disorders worldwide. On this day, we highlight some critical facts that must not be ignored:
🔹 𝐃𝐌𝐃 𝐑𝐞𝐬𝐞𝐚𝐫𝐜𝐡 𝐅𝐨𝐜𝐮𝐬:
➡ Among genetic disorders, DMD has received the highest level of global drug research efforts. Yet, real progress in treatment is still limited. Every country should prioritize proper diagnosis and work towards bringing personalized medicine for their own patients.
🔹 𝐂𝐚𝐫𝐫𝐢𝐞𝐫 𝐓𝐞𝐬𝐭𝐢𝐧𝐠 𝐌𝐚𝐭𝐭𝐞𝐫𝐬:
➡ Identifying carriers before marriage or pregnancy is crucial to reducing the risk of passing on this disorder to the next generation.
🔹 𝐂𝐡𝐚𝐥𝐥𝐞𝐧𝐠𝐞𝐬 𝐢𝐧 𝐔𝐫𝐛𝐚𝐧 𝐀𝐫𝐞𝐚𝐬:
➡ In many urban settings, misdiagnosis is common. Sometimes mild CPK elevation or myopathy-like symptoms are prematurely labeled as DMD.
➡ We must remember: many other conditions mimic DMD but are not actually DMD.
🔹 𝐈𝐦𝐩𝐨𝐫𝐭𝐚𝐧𝐜𝐞 𝐨𝐟 𝐏𝐫𝐨𝐩𝐞𝐫 𝐆𝐞𝐧𝐞𝐭𝐢𝐜 𝐃𝐢𝐚𝐠𝐧𝐨𝐬𝐢𝐬:
➡ Only through accurate genetic testing can we distinguish DMD from other similar conditions.
➡ Correct diagnosis may even reveal target-based treatments for other muscular disorders.

💡 𝐀𝐭 𝐍𝐞𝐮𝐫𝐨𝐆𝐞𝐧 𝐇𝐞𝐚𝐥𝐭𝐡𝐜𝐚𝐫𝐞’𝐬 𝐆𝐆𝐌𝐂, 𝐰𝐞 𝐡𝐚𝐯𝐞 𝐬𝐞𝐞𝐧 𝐬𝐞𝐯𝐞𝐫𝐚𝐥 𝐬𝐮𝐜𝐡 𝐜𝐚𝐬𝐞𝐬 𝐰𝐡𝐞𝐫𝐞 𝐠𝐞𝐧𝐞𝐭𝐢𝐜 𝐭𝐞𝐬𝐭𝐢𝐧𝐠 𝐜𝐨𝐫𝐫𝐞𝐜𝐭𝐞𝐝 𝐭𝐡𝐞 𝐝𝐢𝐚𝐠𝐧𝐨𝐬𝐢𝐬 𝐚𝐧𝐝 𝐩𝐫𝐨𝐯𝐢𝐝𝐞𝐝 𝐧𝐞𝐰 𝐭𝐫𝐞𝐚𝐭𝐦𝐞𝐧𝐭 𝐝𝐢𝐫𝐞𝐜𝐭𝐢𝐨𝐧𝐬.
📢 That’s why awareness must be built from all angles—research, diagnosis, testing, and public understanding.

Image source: https://dmdwarrior.com/world-duchenne-awareness-day-2025/

World Duchenne Awareness Day will be observed globally on September 7, 2025, with the theme “Make Cures Affordable for Duchenne.” This important day raises

03/09/2025

🔬𝐆𝐆𝐌𝐂 𝐂𝐚𝐬𝐞 𝐑𝐞𝐩𝐨𝐫𝐭: 𝐏𝐫𝐢𝐦𝐚𝐫𝐲 𝐇𝐲𝐩𝐞𝐫𝐨𝐱𝐚𝐥𝐮𝐫𝐢𝐚 𝐭𝐲𝐩𝐞 𝟏 — A Rare Metabolic Disorder Affecting Kidneys..
A 2-month-old boy, born to consanguineous parents, presented with renal insufficiency, high creatinine, painful urination, vomiting, and abdominal distension.

𝐏𝐫𝐨𝐟. 𝐃𝐫. 𝐒𝐡𝐢𝐫𝐞𝐞𝐧 𝐀𝐟𝐫𝐨𝐳𝐞, a leading 𝐩𝐞𝐝𝐢𝐚𝐭𝐫𝐢𝐜 𝐧𝐞𝐩𝐡𝐫𝐨𝐥𝐨𝐠𝐢𝐬𝐭 𝐨𝐟 𝐁𝐚𝐧𝐠𝐥𝐚𝐝𝐞𝐬𝐡, clinically suspected to be a congenital kidney disorder. The case was referred for 𝐖𝐡𝐨𝐥𝐞 𝐄𝐱𝐨𝐦𝐞 𝐒𝐞𝐪𝐮𝐞𝐧𝐜𝐢𝐧𝐠 (𝐖𝐄𝐒) at GGMC.

𝐖𝐄𝐒 𝐅𝐢𝐧𝐝𝐢𝐧𝐠𝐬:
👉Missense homozygous likely pathogenic variant in the 𝑨𝑮𝑿𝑻 gene.
👉Variants in 𝑨𝑮𝑿𝑻 are associated with Primary Hyperoxaluria type 1 (PH1).
𝗢𝘂𝘁𝗰𝗼𝗺𝗲: 𝗨𝗻𝗳𝗼𝗿𝘁𝘂𝗻𝗮𝘁𝗲𝗹𝘆, 𝘁𝗵𝗲 𝗰𝗵𝗶𝗹𝗱 𝗱𝗲𝗰𝗲𝗮𝘀𝗲𝗱 𝗮𝘁 𝟮.𝟱 𝗺𝗼𝗻𝘁𝗵𝘀.

🧬 𝐏𝐫𝐢𝐦𝐚𝐫𝐲 𝐇𝐲𝐩𝐞𝐫𝐨𝐱𝐚𝐥𝐮𝐫𝐢𝐚 𝐭𝐲𝐩𝐞 𝟏 (𝐏𝐇𝟏) – 𝐏𝐚𝐭𝐡𝐨𝐩𝐡𝐲𝐬𝐢𝐨𝐥𝐨𝐠𝐲
👉𝑨𝑮𝑿𝑻 gene defect → excess oxalate production.
👉Oxalate + calcium → calcium oxalate crystals.
👉Crystals deposit in kidneys → nephrolithiasis and nephrocalcinosis.
👉Progressive kidney damage → CKD (Chronic Kidney Disease) → finally ESRD (End-Stage Renal Disease).

✅ 𝐏𝐨𝐬𝐭 𝐆𝐞𝐧𝐞𝐭𝐢𝐜 𝐂𝐨𝐮𝐧𝐬𝐞𝐥𝐢𝐧𝐠:
👉Parents underwent carrier screening for the 𝑨𝑮𝑿𝑻 gene at NeuroGen Healthcare through Sanger Sequencing and were found to be carriers.
👉They are now planning for their next child with preconception genetic counseling and intend to use CVS (Chorionic Villus Sampling) to ensure early detection.

𝐀𝐰𝐚𝐫𝐞𝐧𝐞𝐬𝐬 𝐍𝐨𝐭𝐞:
National Kidney Awareness Week, observed from September 2–6, reminds us of the importance of kidney health. Although congenital kidney disorders like PH1 are rare, they can be extremely serious and life-threatening. For families with a history of genetic conditions, preconception genetic counseling is essential to understand potential risks and make informed decisions in a timely manner.

31/08/2025

Many people still think that genetic testing is not possible in Bangladesh.
To them, we want to say – a complete genetic testing setup is now available right here in the country at NeuroGen Healthcare.

Renowned Neurologists, Pediatricians, Nephrologists, and Cardiologists of Bangladesh have visited our Genetics and Genomic Medicine Center (GGMC) Lab. They have witnessed firsthand how, with advanced technology, our in-house lab is performing –
🔹 𝑾𝒉𝒐𝒍𝒆 𝑬𝒙𝒐𝒎𝒆 𝑺𝒆𝒒𝒖𝒆𝒏𝒄𝒊𝒏𝒈 (𝑾𝑬𝑺)
🔹 𝑪𝑵𝑽 𝑨𝒏𝒂𝒍𝒚𝒔𝒊𝒔
🔹 𝑴𝒊𝒕𝒐𝒄𝒉𝒐𝒏𝒅𝒓𝒊𝒂𝒍 𝑫𝑵𝑨 𝑺𝒆𝒒𝒖𝒆𝒏𝒄𝒊𝒏𝒈

They also observed how bioinformatics analysis is conducted and how comprehensive clinical reports are prepared.

Our mission is to gradually establish even more advanced genetic tests within Bangladesh so that people no longer need to depend on laboratories abroad.

NeuroGen Healthcare
🌐 www.neurogenbd.com
📞 +8801787662575
📍 Eastern Dolan, Level – 4, 152/2-H, Bir Uttam Kazi Nuruzzaman Sarak, West Panthapath (Former Green Road), Dhaka – 1205, Bangladesh

24/08/2025

🔬 𝗚𝗚𝗠𝗖 𝗖𝗮𝘀𝗲 𝗥𝗲𝗽𝗼𝗿𝘁! 🧬
A 2.6-year-old boy, born to consanguineous parents, presented with 𝐫𝐞𝐜𝐮𝐫𝐫𝐞𝐧𝐭 𝐫𝐞𝐬𝐩𝐢𝐫𝐚𝐭𝐨𝐫𝐲 𝐢𝐧𝐟𝐞𝐜𝐭𝐢𝐨𝐧𝐬, 𝐩𝐨𝐨𝐫 𝐰𝐚𝐥𝐤𝐢𝐧𝐠 𝐛𝐚𝐥𝐚𝐧𝐜𝐞, 𝐚𝐧𝐝 𝐟𝐫𝐞𝐪𝐮𝐞𝐧𝐭 𝐟𝐚𝐥𝐥𝐬. His elder brother also showed a similar phenotype.

Child specialist 𝐃𝐫. 𝐒𝐡𝐚𝐨𝐥𝐢 𝐒𝐚𝐫𝐤𝐞𝐫 𝐚𝐭 𝐍𝐞𝐮𝐫𝐨𝐆𝐞𝐧 𝐇𝐞𝐚𝐥𝐭𝐡𝐜𝐚𝐫𝐞 𝐜𝐥𝐢𝐧𝐢𝐜𝐚𝐥𝐥𝐲 𝐬𝐮𝐬𝐩𝐞𝐜𝐭𝐞𝐝 𝐀𝐭𝐚𝐱𝐢𝐚-𝐓𝐞𝐥𝐚𝐧𝐠𝐢𝐞𝐜𝐭𝐚𝐬𝐢𝐚 (𝐀𝐓) and referred the case for 𝐖𝐡𝐨𝐥𝐞 𝐄𝐱𝐨𝐦𝐞 𝐒𝐞𝐪𝐮𝐞𝐧𝐜𝐢𝐧𝐠 (𝐖𝐄𝐒) 𝐚𝐭 𝐆𝐆𝐌𝐂.

WES identified a 𝐡𝐨𝐦𝐨𝐳𝐲𝐠𝐨𝐮𝐬 𝐬𝐭𝐨𝐩𝐠𝐚𝐢𝐧 𝐩𝐚𝐭𝐡𝐨𝐠𝐞𝐧𝐢𝐜 𝐯𝐚𝐫𝐢𝐚𝐧𝐭 𝐢𝐧 𝐭𝐡𝐞 𝑨𝑻𝑴 𝐠𝐞𝐧𝐞 (𝐜.𝟐𝟔𝟕𝟐𝐂>𝐆; 𝐩.𝐒𝐞𝐫𝟖𝟗𝟏𝐓𝐞𝐫), confirming the diagnosis of 𝐀𝐭𝐚𝐱𝐢𝐚-𝐓𝐞𝐥𝐚𝐧𝐠𝐢𝐞𝐜𝐭𝐚𝐬𝐢𝐚.

🧬Ataxia-Telangiectasia (AT) is a rare autosomal recessive neurodegenerative disorder, characterized by cerebellar ataxia, telangiectases, immunodeficiency, and an increased risk of malignancy and diabetes.

✅ Early genetic diagnosis is crucial for planning the child’s management and guiding the family’s future decisions. The family has already received genetic counseling, and further parental as well as elder sibling analysis has been advised.

✨ This case highlights the power of 𝐖𝐡𝐨𝐥𝐞 𝐄𝐱𝐨𝐦𝐞 𝐒𝐞𝐪𝐮𝐞𝐧𝐜𝐢𝐧𝐠 𝐢𝐧 𝐝𝐢𝐚𝐠𝐧𝐨𝐬𝐢𝐧𝐠 𝐜𝐨𝐦𝐩𝐥𝐞𝐱 𝐜𝐡𝐢𝐥𝐝𝐡𝐨𝐨𝐝 𝐝𝐢𝐬𝐨𝐫𝐝𝐞𝐫𝐬.

19/08/2025

𝐁𝐮𝐢𝐥𝐝𝐢𝐧𝐠 𝐆𝐞𝐧𝐨𝐦𝐢𝐜 𝐄𝐱𝐜𝐞𝐥𝐥𝐞𝐧𝐜𝐞 𝐢𝐧 𝐁𝐚𝐧𝐠𝐥𝐚𝐝𝐞𝐬𝐡 🧬🔬🇧🇩

At NeuroGen Healthcare, we are regularly performing 𝐖𝐡𝐨𝐥𝐞 𝐄𝐱𝐨𝐦𝐞 𝐒𝐞𝐪𝐮𝐞𝐧𝐜𝐢𝐧𝐠 (𝐖𝐄𝐒) 𝐚𝐧𝐝 𝐌𝐢𝐭𝐨𝐜𝐡𝐨𝐧𝐝𝐫𝐢𝐚𝐥 𝐃𝐍𝐀 (𝐦𝐭𝐃𝐍𝐀) 𝐚𝐧𝐚𝐥𝐲𝐬𝐢𝐬 in our in-house laboratory, GGMC, using the 𝐌𝐆𝐈 𝐃𝐍𝐁𝐒𝐄𝐐-𝐆𝟓𝟎 𝐩𝐥𝐚𝐭𝐟𝐨𝐫𝐦. 💉🏥

From sequencing to analysis and reporting, the entire process is carried out locally, proving that such advanced technologies can indeed be established within Bangladesh. 🇧🇩 🇧🇩 🇧🇩

We are also working on bringing more next-generation technologies in the future to build a complete genomic setup in our lab. 🧬


#𝐖𝐡𝐨𝐥𝐞𝐄𝐱𝐨𝐦𝐞𝐒𝐞𝐪𝐮𝐞𝐧𝐜𝐢𝐧𝐠 #𝐌𝐢𝐭𝐨𝐜𝐡𝐨𝐧𝐝𝐫𝐢𝐚𝐥𝐃𝐍𝐀𝐚𝐧𝐚𝐥𝐲𝐬𝐢𝐬