Latest news with #NextGenerationSequencing
Kuwait Times
01-06-2025
- Health
- Kuwait Times
Kuwait to introduce gene therapy for teens with blood disorders
Dr Ahmad Al-Awadhi KUWAIT: Minister of Health Dr Ahmad Al-Awadhi announced on Friday that more than 40 successful stem cell transplant operations have been performed in Kuwait for children suffering from thalassemia and sickle cell anemia, noting that 'these procedures are increasing due to advanced medical efforts and ongoing government support.' In his opening speech at the First Pan Arab Thalassemia and Sickle Cell Disease Awareness Conference, Dr Al-Awadhi also revealed that gene therapy for children over the age of 12 is under review in Kuwait as a promising treatment option for thalassemia and sickle cell anemia, and that it is expected to be available soon as part of the country's national health plans. 'This step will open new horizons for full recovery and improved quality of life,' he said, adding that it falls under a comprehensive national strategy aimed at easing the burden on patients and their families and enhancing their well-being. He expressed Kuwait's pride in its notable achievements in prevention, especially the premarital screening program, which has been implemented since 2009. He noted that more than 400,000 screenings have been conducted using the latest advanced diagnostic tools. In addition, a specialized genetic laboratory has been established to diagnose blood disorders using multiple modern genetic techniques, the latest of which is Next Generation Sequencing (NGS). He emphasized that the program's success was proven in a scientific study published in 2019, which showed a significant drop of over 50 percent in the number of cases at risk of transmitting hereditary blood diseases among engaged couples. This success has led to a noticeable decrease in new thalassemia cases diagnosed in newborns, children, and citizens in Kuwait. Consequently, the Ministry of Health decided to include residents in the premarital screening program. This resulted in a recently issued law mandating such screenings for residents prior to marriage. Dr Al-Awadhi stressed the ministry's strong commitment to enhancing services for these patients, including providing the latest internationally approved treatments for iron overload, a common complication from repeated blood transfusions. He reaffirmed the ministry's dedication to introducing the latest globally approved treatments that reduce dependence on blood transfusions by stimulating red blood cell production in patients. Dr Al-Awadhi concluded by stating that these diseases affect not only individuals' health but also impact families and society as a whole. 'We reaffirm our commitment to supporting every scientific or humanitarian initiative that helps raise awareness, improve patients' quality of life, and enhance efforts in early diagnosis and treatment,' he said. — KUNA
NDTV
23-05-2025
- Health
- NDTV
India To Lead Global Research On Environment And Health
New Delhi: India stands at the cusp of becoming a global leader in exposomics research, with the potential to reshape its understanding and prevent the disease, said Dr Kalpana Balakrishnan, Dean of Sri Ramachandra Institute of Higher Education and Research. Ms Balakrishnan, who was part of a recent forum on exposomics organised by the Johns Hopkins University in Washington DC, told PTI that India's unique blend of traditional and modern health risks makes it "a natural laboratory" for exposome science. The term "exposome" was coined by Dr Christopher Wild in 2005. It refers to the totality of environmental exposures that individuals experience throughout their lives, from conception to death. Unlike a genome, which is inherited and fixed, the exposome is dynamic, ever-shifting and deeply intertwined with health outcomes. Noting that genes and genetic susceptibility alone cannot explain why people develop a chronic disease, Ms Balakrishnan said, "Someone may not have the genetic markers for heart disease or diabetes, but still end up with them because of multiple environmental exposures experienced over a life course. That's the exposome." While the Human Genome Project advanced genetic science within a decade, diseases affecting the cardiovascular system, endocrine disorders and mental health issues remain poorly understood through genetics alone, she explained, emphasising the need for cutting-edge tools that can capture exposures from chemical, physical, biological and psychosocial hazards and their interactions with lifestyles or living conditions. When asked about what kind of tools and technologies are needed for exposome mapping, Ms Balakrishnan told PTI that High Resolution Mass Spectrometry (HRMS) that can simultaneously screen thousands of chemical compounds in air, water, soil and food is one of the key technologies. "You don't just test for what you expect - A, B, and C. You do untargeted analysis to discover D, E, F and beyond. Otherwise, you stay blind to the unknowns," she said. For biological responses, Next Generation Sequencing (NGS) and a suite of omics platforms, including metabolomics, proteomics, and genomics, are vital. "These help us understand how internal systems react to exposures," Ms Balakrishnan said, noting that samples from blood, urine and other tissues provide critical biological signatures. However, exposomics isn't confined to the laboratory. It now includes satellite-generated data for physical exposures like air pollution, urban heat islands, vegetation cover, and land-use changes. "We can map environmental factors at high spatial resolution for entire populations," she said, adding that this is especially critical for a country like India, where environmental risks vary drastically by region and socioeconomic status. Highlighting the complexity of exposomic data, Ms Balakrishnan, who is also the director at World Health Organisation (WHO) Collaborating Centre for Occupational Environmental Health, mentioned that mapping it requires deep learning and AI-powered pattern recognition beyond basic statistical methods. "These computational tools are crucial. We need them to make sense of massive, layered datasets across environmental samples, biological responses, and population demographics," Ms Balakrishnan told PTI. She further referred to the successful models in the North American and European exposome consortia, where patterns between pollution, green spaces, and genetic variants are predicting risks for diseases like diabetes and cardiovascular conditions. "Imagine if we could replicate and scale that here in India," she said. India's opportunity lies in its landscape, which includes traditional public health challenges like poor sanitation and lack of clean water. These challenges exist alongside modern hazards like ultra-processed food, air pollution and psychosocial stress. "We're seeing exposure overload from both ends," Ms Balakrishnan said. "That's why we need a holistic, integrative framework in the numerous ongoing cohorts in the country, and exposomics can give us that," she added. Stressing that India cannot rely on siloed scientific approaches, she further stated that it is not just the job of medical scientists. "We need engineers, economists, social scientists, and urban planners in the room - together with policymakers from the start," she emphasised. Adding an international perspective, Dr Rima Habre, associate professor of environmental health and spatial sciences at the University of Southern California and co-director of the NIH-funded NEXUS Center for Exposome Research Coordination, said India holds immense potential for global collaborations in exposomics. Speaking to PTI, Habre said, "I connected with Dr Balakrishnan around exposomics at a recent visit to Ahmedabad, India, where we were both invited speakers at an ICMR-NIOH conference. "I presented our vision in the NEXUS Center, which I co-lead with Dr. Gary Miller and Dr. Chirag Patel, to link US-based and international researchers and infrastructure for a truly global exposome initiative." She added that India's diversity of environmental and social stressors, shaped by unique regional policies and cultural practices, offers unparalleled insight into the totality of health-relevant exposures. "Dr Balakrishnan's work in establishing large, population-based cohorts in India is foundational for exposomics," Habre said, calling for a globally connected but locally governed framework to reduce the environmental burden of disease. Poornima Prabhakaran, Director of the Centre for Health Analytics Research and Trends (CHART), Ashoka University, echoed the sentiments. India's longitudinal research infrastructure provides a fertile ground to pioneer large-scale exposomics studies tailored to developing country contexts, she told PTI. "As a global effort to scale exposomics gathers momentum, we must account for a multitude of diverse exposures across geographies and populations spanning biomarkers, environmental risk factors and 'omics'," she said. This is in light of the recent Exposome Moonshot Forum hosted in Washington DC where there is already an effort across EU (EIRENE) and now US (NEXUS) and IREN to initiate this effort globally, Prabhakaran said.
Time of India
23-05-2025
- Health
- Time of India
'Health isn't shaped by genes alone - it's in the air and all around us'
New Delhi: India stands at the cusp of becoming a global leader in exposomics research, with the potential to reshape its understanding and prevent the disease, said Dr Kalpana Balakrishnan , Dean of Sri Ramachandra Institute of Higher Education and Research. Balakrishnan , who was part of a recent forum on exposomics organised by the Johns Hopkins University in Washington DC, told PTI that India's unique blend of traditional and modern health risks makes it "a natural laboratory" for exposome science. The term "exposome" was coined by Dr Christopher Wild in 2005. It refers to the totality of environmental exposures that individuals experience throughout their lives, from conception to death. Unlike a genome, which is inherited and fixed, the exposome is dynamic, ever-shifting and deeply intertwined with health outcomes. Noting that genes and genetic susceptibility alone cannot explain why people develop a chronic disease, Balakrishnan said, "Someone may not have the genetic markers for heart disease or diabetes, but still end up with them because of multiple environmental exposures experienced over a life course. That's the exposome." While the Human Genome Project advanced genetic science within a decade, diseases affecting the cardiovascular system, endocrine disorders and mental health issues remain poorly understood through genetics alone, she explained, emphasising the need for cutting-edge tools that can capture exposures from chemical, physical, biological and psychosocial hazards and their interactions with lifestyles or living conditions. When asked about what kind of tools and technologies are needed for exposome mapping, Balakrishnan told PTI that High Resolution Mass Spectrometry (HRMS) that can simultaneously screen thousands of chemical compounds in air, water, soil and food is one of the key technologies. "You don't just test for what you expect - A, B, and C. You do untargeted analysis to discover D, E, F and beyond. Otherwise, you stay blind to the unknowns," she said. For biological responses, Next Generation Sequencing (NGS) and a suite of omics platforms, including metabolomics, proteomics, and genomics, are vital. "These help us understand how internal systems react to exposures," Balakrishnan said, noting that samples from blood, urine and other tissues provide critical biological signatures. However, exposomics isn't confined to the laboratory. It now includes satellite-generated data for physical exposures like air pollution, urban heat islands, vegetation cover, and land-use changes. "We can map environmental factors at high spatial resolution for entire populations," she said, adding that this is especially critical for a country like India, where environmental risks vary drastically by region and socioeconomic status. Highlighting the complexity of exposomic data, Balakrishnan, who is also the director at World Health Organisation (WHO) Collaborating Centre for Occupational Environmental Health, mentioned that mapping it requires deep learning and AI-powered pattern recognition beyond basic statistical methods. "These computational tools are crucial. We need them to make sense of massive, layered datasets across environmental samples, biological responses, and population demographics," Balakrishnan told PTI. She further referred to the successful models in the North American and European exposome consortia, where patterns between pollution, green spaces, and genetic variants are predicting risks for diseases like diabetes and cardiovascular conditions. "Imagine if we could replicate and scale that here in India," she said. India's opportunity lies in its landscape, which includes traditional public health challenges like poor sanitation and lack of clean water. These challenges exist alongside modern hazards like ultra-processed food, air pollution and psychosocial stress. "We're seeing exposure overload from both ends," Balakrishnan said. "That's why we need a holistic, integrative framework in the numerous ongoing cohorts in the country, and exposomics can give us that," she added. Stressing that India cannot rely on siloed scientific approaches, she further stated that it is not just the job of medical scientists. "We need engineers, economists, social scientists, and urban planners in the room - together with policymakers from the start," she emphasised. Adding an international perspective, Dr Rima Habre , associate professor of environmental health and spatial sciences at the University of Southern California and co-director of the NIH-funded NEXUS Center for Exposome Research Coordination, said India holds immense potential for global collaborations in exposomics. Speaking to PTI, Habre said, "I connected with Dr Balakrishnan around exposomics at a recent visit to Ahmedabad, India, where we were both invited speakers at an ICMR-NIOH conference. "I presented our vision in the NEXUS Center, which I co-lead with Dr. Gary Miller and Dr. Chirag Patel , to link US-based and international researchers and infrastructure for a truly global exposome initiative." She added that India's diversity of environmental and social stressors, shaped by unique regional policies and cultural practices, offers unparalleled insight into the totality of health-relevant exposures. "Dr Balakrishnan's work in establishing large, population-based cohorts in India is foundational for exposomics," Habre said, calling for a globally connected but locally governed framework to reduce the environmental burden of disease. Poornima Prabhakaran, Director of the Centre for Health Analytics Research and Trends (CHART), echoed the sentiments. India's longitudinal research infrastructure provides a fertile ground to pioneer large-scale exposomics studies tailored to developing country contexts, she told PTI. "As a global effort to scale exposomics gathers momentum, we must account for a multitude of diverse exposures across geographies and populations spanning biomarkers, environmental risk factors and 'omics'," she said. This is in light of the recent Exposome Moonshot Forum hosted in Washington DC where there is already an effort across EU (EIRENE) and now US (NEXUS) and IREN to initiate this effort globally, Prabhakaran said.
Time of India
28-04-2025
- Health
- Time of India
AI-based Genomics sequencing and medicine centre operationalised at AIIMS Jammu
Jammu : The All India Institute of Medical Sciences ( AIIMS ) Jammu has officially initiated laboratory operations at its newly established Centre for Advanced Genomics & Precision Medicine for treating cancer patients . As per the hospital, the Centre, developed in collaboration with 4baseCare, is equipped with advanced Next Generation Sequencing (NGS) technology, for comprehensive genomic profiling of patients, that enables clinicians to design personalised, targeted treatment plans tailored to each patient's unique molecular profile. The Centre will accept samples from patients and healthcare providers across the country, ensuring that cutting-edge molecular diagnostics are accessible, regardless of geographical barriers, it added.
Hans India
28-04-2025
- Health
- Hans India
AIIMS Jammu launches centre for advanced genomics, precision medicine to boost cancer care
Jammu: The All-India Institute of Medical Sciences (AIIMS) Jammu on Monday launched the Centre for Advanced Genomics and Precision Medicine to boost affordable, precision-driven cancer care with advanced Next Generation Sequencing (NGS) technology. The Centre, developed in collaboration with oncology company 4baseCare, is equipped with the Illumina NextSeq 2000 sequencing machine, offering comprehensive genomic profiling for cancer patients. The powerful technology enables clinicians to design highly personalised, targeted treatment plans tailored to each patient's unique molecular profile. AIIMS Jammu announced its collaboration with 4baseCare in January. 'For every patient we treat, we are treating a mother, a father, a sister, or a brother. This partnership is our promise to every family who walks through our doors that we will do everything in our power to bring them the care they deserve,' Prof (Dr) Shakti Kumar Gupta, Executive Director and CEO, AIIMS Jammu. 'By integrating cutting-edge genomic data with AI-powered diagnostics, the Centre is poised to significantly improve early disease detection, refine therapy choices, and minimise ineffective treatments -- ultimately enhancing both patient outcomes and quality of life,' said Dr. Sudharshan Elangovan, Vice President – Global Operations at 4baseCare. Traditionally, access to such advanced genomic testing has been prohibitively expensive for many patients. However, with this initiative, high-quality NGS-based tests will now be made available at affordable costs, paving the way for greater inclusivity in precision oncology across India. Further solidifying its role as a national referral hub, the Centre will accept samples from patients and healthcare providers across the country, ensuring that cutting-edge molecular diagnostics are accessible, regardless of geographical barriers. The Centre will focus on targeted, biomarker-driven therapies, enabling personalised treatment plans to improve outcomes and quality of life of cancer patients. Using genomics the facility also aims to tackle rare diseases. And to boost healthier pregnancies, the centre will integrate cutting-edge genetic technologies such as Non-Invasive Prenatal Testing (NIPT), Preimplantation Genetic Screening (PGS), and Preimplantation Genetic Diagnosis (PGD).
