A Genetic Answer for a Rare Disease: Tuberous Sclerosis Complex Case from Indonesia
For many families living with rare diseases, the journey to diagnosis can be long, emotionally exhausting, and filled with uncertainty. Patients may visit multiple specialists, undergo repeated medical examinations, and still struggle to obtain a clear explanation for their symptoms. In many cases, the absence of a definitive diagnosis can delay appropriate treatment and increase […]
Haemophilia: When a Small Cut Won’t Stop Bleeding
Imagine a small papercut that refuses to stop bleeding, or a bruise that appears for no reason at all. For most of us, blood clotting is an invisible shield, a rapid-response team that patches up our injuries without a second thought. But for those with Haemophilia, that shield is missing a vital part of its […]
[WORLD DOWN SYNDROME DAY] Smart Pregnancy Planning: Detecting Down Syndrome Before and During Pregnancy
Every year on World Down Syndrome Day, we are reminded of the importance of awareness, understanding, and early support for individuals born with this genetic condition. Down syndrome, also known as Trisomy 21, occurs when a baby has an extra copy of chromosome 21. Normally, a baby inherits 46 chromosomes, 23 from each parent. Think […]
A Call to Action for International Rare Disease Day 2026
Advancing Equity Through Early Detection, Genomic Innovation, and Collective Action International Rare Disease Day 2026 serves as a critical reminder that rarity does not diminish impact. Although each rare disease affects a small number of individuals, collectively these conditions represent a major global health challenge requiring scientific commitment, policy prioritization, and equitable access to diagnostics […]
When “Clumsiness” is More: A Parent’s Guide to Understand Muscle Weakness in Children
Children’s Clumsiness or Trusting Your “Parental Instinct” Children often trip or fall during their process of learning to walk and which is totally normal since their balance and coordination skills are still in an early developmental stage. However, parents may notice that some children present several struggles for running, climbing stairs, getting up from the […]
Recurrent Miscarriage Diagnosis: A Clinical Perspective and Solutions
Recurrent pregnancy loss (RPL) remains one of the most challenging conditions in reproductive medicine, affecting approximately 1–2% of couples worldwide. Among all etiologies, chromosomal abnormalities in the embryo, including aneuploidies, structural rearrangements, and pathogenic copy number variations (CNVs), constitute the largest identifiable cause, particularly during the first trimester, when over 80% of miscarriages occur. Chromosomal […]
PGT-M (Preimplantation Genetic Testing for Monogenic Diseases): Definisi dan Tujuan Pengujian
Ingin memastikan buah hatimu terlahir sehat dan bebas dari penyakit genetik yang serius? Teknologi modern seperti PGT-M bisa jadi jawaban untuk mengurangi risiko penularan penyakit bawaan sejak sebelum kehamilan dimulai. Yuk, cari tahu selengkapnya!
5 Jenis Vaksin Sebelum Menikah yang Wajib Kamu Pertimbangkan
Sebelum kamu dan pasangan melangkah ke jenjang pernikahan, ada satu hal penting yang sering terlupakan, yaitu vaksinasi. Lalu, vaksin apa saja yang harus dilakukan sebelum menikah dan apa fungsinya? Berikut penjelasannya!
Apa itu DiGeorge Syndrome? Kenali Lebih Dekat Penyakit Langka Ini!
Pernahkah kamu mendengar tentang DiGeorge syndrome? Meski tidak sepopuler penyakit lain, kondisi ini ternyata bisa berdampak besar pada kesehatan seseorang sejak lahir. Yuk, kenali bersama!
Benarkah Kunyit Dapat Memperlancar Haid?
Kunyit merupakan herbal yang sering digunakan sebagai obat berbagai macam keluhan kesehatan, termasuk haid yang tidak lancar. Benarkan kunyit memiliki manfaat untuk memperlancar haid? Yuk simak artikel berikut untuk mengetahui jawabannya!
