Latest news with #WholeExomeSequencing
Time of India
3 days ago
- Health
- Time of India
Infant with rare genetic disorder gets life saving treatment
Vadodara: An infant boy from Panchmahal district got a new lease of life after he was diagnosed with an extremely rare hormonal disorder. The child was suffering from Aldosterone Synthase Deficiency (ASD), specifically the Corticosterone Methyl Oxidase Type II (CMO II), which slows down growth. The baby was presented with symptoms of poor feeding, frequent vomiting and developmental delays when it was five months old. The weight of the baby was 5kg and was not increasing. After observing the baby for some time, the doctors advised the parents to get genetic testing done. The report came in when the boy was seven months old and revealed that he had ASD. The condition affects the body's ability to retain salt and maintain normal blood pressure. Dr Bhargav Patel, a paediatrician at MT Mirani Hospital, which is run by the Sad Vichar Parivar in Godhra, said tests initially showed electrolyte imbalance and low aldosterone levels, prompting further genetic testing. He added that the condition, caused by mutations in the CYP11B2 gene, is so rare that only a handful of cases have been reported worldwide. "In this infant, the Thr185Ile mutation was identified. It is the first such case reported not only in Gujarat but across India, marking a rare genetic discovery," said Patel. He added that the diagnosis was confirmed through Whole Exome Sequencing. Treatment was initiated with fludrocortisone and salt supplementation, which led to visible improvements in just a few weeks. The child will have to keep taking hormones orally for life. "His feeding improved, weight increased and developmental milestones that had stalled began progressing again," said Dr Patel. He emphasized the need for awareness and genetic testing for rare paediatric disorders.
Morocco World
22-04-2025
- Health
- Morocco World
Advanced Genetic Test Now Available in Morocco
Rabat – Morocco has taken a major step forward in medical genetics with the introduction of Whole Exome Sequencing (WES), a thorough diagnostic tool that is reshaping genetic testing on a global scale. This advanced method, known as Next-Generation Sequencing (NGS), can detect up to 85% of genetic mutations linked to complex and inherited diseases. It is expected to significantly enhance the accuracy and speed of diagnosis for a wide range of medical conditions. WES is now available at the Anoual Center Laboratory in Casablanca, making it the first facility in Morocco to offer the test. The center is internationally accredited, meeting global standards for quality and performance. Although new to Morocco, WES was developed around 2009 and has since gained traction in clinical and research settings worldwide. The technique emerged after scientists discovered that the majority of genetic diseases stem from changes in a small portion of our DNA known as the 'exome'— the part responsible for telling the body how to produce proteins. While the exome only makes up about 1–2% of the human genome, it holds the majority of the crucial information for diagnosing genetic conditions. Rather than sequencing all of a person's DNA, WES focuses solely on this key section, making the process quicker, more affordable, and highly effective in uncovering the root causes of many diseases. The technology can analyze over 20,000 genes in one go, using a simple sample of saliva, blood, or other DNA-rich material. Unlike traditional methods that assess genes individually, WES offers a comprehensive view of the genome in a single, fast analysis. In addition to reducing diagnostic time and cost, WES also supports healthcare providers in choosing more precise and effective treatments, helping to avoid unnecessary or inappropriate therapies. The launch follows a successful pilot phase carried out through the lab's GENOMAf platform (Genome of Africa), a program focused on molecular biology research. Genetic diseases are a significant public health concern in Morocco, often linked to both genetic diversity and social practices such as consanguineous marriages. These unions, which involve relatives, increase the risk of children inheriting the same defective gene from both parents. Among the most common genetic conditions in Morocco is alpha-thalassemia, a blood disorder prevalent in the northern regions that affects the body's ability to produce hemoglobin. Sickle cell disease is also present and causes red blood cells to adopt an abnormal shape, leading to complications like anemia and chronic pain. To better understand and manage these conditions, the Moroccan Genetic Disease Database (MGDD) has documented over 425 mutations associated with 259 genetic disorders. This resource plays a key role in supporting research, diagnosis, and public awareness of genetic health challenges in the country. Tags: DNA testsmorocco health care
