June 19 is observed as World Sickle Cell Day, which was initially proposed as a resolution by the United Nations in 2008. IGIB has been active in CRISPR based diagnostics and therapeutics for SCD and other hemoglobinopathies. Sangam Goswami is one of the researchers at the institute who works on genetic correction of hemoglobinopathies. He is pursuing his PhD in Dr. Sivaprakash Ramalingam’s lab. We talked to him to know the current status of SCD research and the challenges in SCD research that still exist globally and in the country.
- Prabhleen Kaur: We would love to know what your PhD project has been. What aspect of the disease did you work on?
Sangam Goswmai: My PhD Project focused on devising a therapeutic strategy for Sickle Cell Disease and beta-thalassemia. Employing a CRISPR/Cas9-based genome editing approach, I aimed to reactivate Fetal Hemoglobin (which is advantageous) while simultaneously eliminating Adult Hemoglobin (specifically, defective forms like HbS and truncated Hemoglobin) in Hematopoietic Stem Cells-derived erythroid cells derived from patients. The outcomes of my study demonstrated a substantial reactivation of beneficial Fetal Hemoglobin, leading to a notable reduction in disease-specific phenotypes.
P: What is the current state of research on SCA in our country?
S: India has been gaining attention and momentum in recent years. India has a significant population affected by Sickle Cell Disease, particularly in states such as Maharashtra, Gujarat, Madhya Pradesh, Chhattisgarh, Odisha, and parts of northeastern India.
In India, research efforts have primarily focused on understanding the prevalence of the disease, identifying genetic variations specific to the Indian population, and studying the clinical manifestations and complications associated with Sickle Cell Disease. There has been a growing emphasis on improving diagnosis, management, and access to quality healthcare services for individuals with the disease.
Collaborations between research institutions, government agencies, non-profit organizations, and patient advocacy groups have played a crucial role in advancing Sickle Cell Disease research in India. These collaborations aim to enhance awareness, share knowledge, and develop tailored interventions that address the specific challenges faced by the Indian population.
In recent years, there has also been progress in conducting clinical trials and exploring novel therapeutic approaches for Sickle Cell Disease in India. This includes studies on hydroxyurea therapy, stem cell transplantation, and the potential role of traditional herbal medicines in managing symptoms.
World Sickle Cell Day, which was initially proposed as a resolution by the United Nations in 2008, is observed annually on June 19 in all nations. The purpose of this day is to raise awareness about sickle cell anaemia as a public health issue and to encourage education about it.
P: How do you expect your research to benefit the Indian population? And how financially accessible do you think the emerging therapy will be to the public?
S: The project has the potential to greatly benefit the Indian population affected by Sickle Cell Disease and beta-thalassemia, prevalent in certain regions of India. By using CRISPR/Cas9-based genome editing to reactivate Fetal Hemoglobin and eliminate defective Adult Hemoglobin, it aims to provide a targeted and potentially curative treatment approach. However, ensuring financial accessibility of these interventions is crucial. Collaborations, government support, and insurance coverage can help reduce costs. Efforts should be made to establish sustainable pricing models and prioritize equitable access, particularly for underprivileged populations. Continued research, advocacy, and policy initiatives are needed to overcome these challenges and make genome editing therapy financially accessible to the Indian population.
P: Can you tell us your views on the global state of the disease research.
S: The global research landscape for Sickle Cell Disease has seen significant progress in recent years, driven by growing recognition of the disease’s impact and the urgent need for effective treatments. There has been an increased focus on understanding the underlying mechanisms of the disease, exploring potential therapeutic targets, and developing innovative interventions.
One positive development is the rise of collaborative efforts and partnerships between researchers, healthcare professionals, patient advocacy groups, and policymakers. These collaborations have facilitated the sharing of knowledge, resources, and patient data, leading to a more comprehensive understanding of the disease and faster progress in research.
Moreover, advancements in technology, such as the revolutionary CRISPR/Cas genome editing system, have opened up new possibilities for targeted interventions. Researchers are exploring the potential of genome editing techniques to correct the genetic mutation responsible for Sickle Cell Disease, offering the promise of a potential cure.
In terms of clinical trials, there has been a steady increase in the number of studies evaluating novel therapeutic approaches, including gene therapies, stem cell transplantation, and small molecule inhibitors targeting specific pathways involved in the disease. These trials are essential for assessing safety, efficacy, and long-term outcomes, and they provide hope for improved treatment options in the future.
However, it’s important to acknowledge that there are still significant challenges to overcome. Sickle Cell Disease research often faces limited funding, especially compared to other diseases with a higher prevalence. Additionally, access to quality healthcare and specialized resources for diagnosis and management remains a concern, particularly in regions with a high disease burden.
To address these challenges, it is crucial to continue raising awareness about Sickle Cell Disease, advocating for increased funding and support for research, and fostering collaboration among stakeholders on a global scale. By working together, we can accelerate progress, improve patient outcomes, and ultimately find a cure for this complex genetic disorder.
Prabhleen Kaur
Prabhleen Kaur is a biology enthusiast currently pursuing her PhD in Dr. Sauvik Maiti's lab. Her focus largely entails the fields of CRISPR and RNA biology. She houses a compulsive need to multi- task and learn something new every possible way.