JK-DNA Talks...
features various scientific viewpoints in the domain of Biology, Biotechnology, precision medicine and genomics, from the region, in simple and layman’s terms, for the knowledge and awareness of common masses in Jammu and Kashmir. Our objective is to foster an interest in biology especially among children, enabling future generations to appreciate its significance and for the future. more details at https://jkdna.in
Friday, June 13, 2025
From Rote Learning to Real-World Application: Reforming Biology Education for Effective BioE3 Implementation
Wednesday, February 22, 2023
what are recessive genetic diseases?
We are more concerned about negative impact and specifically when both the copies of the gene have mutation. lets assume, there is a mutation in one copy of gene in mother, may be she has inherited it from either of her parents. As long as father and mother contributed normal copy of gene, kid is normal. If mother has inherited the mutated gene, the normal gene from the parents tries to compensate and disease may not appear and kid though is a carrier yet appears unaffected. Now lets expand the situation. If mother has a carrier cousin who has a carrier daughter and both families decide to marry their kids. Now if both the carriers inherited normal gene copy, kid is normal but if both inherited mutated copy, the severe disease appears and kid is affected and is the scenario called as recessive disorder.
Friday, August 19, 2022
Ayurvedome and Ayurvedomics: Exploring Indian Traditional Medicinal Practices the Genomics Way!
Dr. Swarkar Sharma (Coordinator, Human genetics Research Group)
Sunday, July 24, 2022
जम्मू और कश्मीर-भारत में दुर्लभ बीमारियां आम हैं और विशेष देखभाल की जरूरत है |
डॉ सावरकर शर्मा (ह्यूमन जेनेटिक्स रिसर्च ग्रुप)
जम्मू और कश्मीर मुख्य रूप से एक पहाड़ी इलाका है, इसलिए अधिकांश जनसंख्या समूह पूरे क्षेत्र में छोटे भौगोलिक क्षेत्रों में मौजूद हैं। भौगोलिक अलगाव के साथ और अधिकांश जनसंख्या समूह विशेष उपसमूहों के भीतर विवाह का अभ्यास और प्रदर्शन करते हैं, जिसके परिणामस्वरूप क्षेत्र में उच्च अंतःप्रजनन होता है। इसके अलावा, जम्मू और कश्मीर की बहुसंख्यक आबादी आम सहमति (अर्थात परिवार में विवाह) का पालन करती है। वैज्ञानिक प्रमाण अब इस बात की पुष्टि करते हैं कि उच्च रक्तसंबंध दुर्लभ आनुवंशिक विकारों की घटनाओं का कारण बनता है। जम्मू-कश्मीर में इस तरह की जनसंख्या संरचना के कारण , इस क्षेत्र में दुर्लभ आनुवंशिक विकारों की उच्च संभावना है। दुर्भाग्य से, अच्छे क्लीनिकल परीक्षण संसाधनों की कमी के कारण इनमें से कई का अभी तक निदान नहीं हो पाया है।
2013 से हम इस क्षेत्र की आबादी के जीनपूल को समझने के लिए काम कर रहे हैं। विभिन्न आनुवंशिक परीक्षण विधियों को लागू करते हुए, हम विभिन्न प्रकार के दुर्लभ आनुवंशिक विकारों की पहचान और लक्षण वर्णन में सफल रहे हैं और कार्य प्रतिष्ठित वैज्ञानिक पत्रिकाओं में प्रकाशित हुए हैं।
ऐसे कई विकारों में, जो कम उम्र में घातक नहीं होते हैं, व्यक्ति जन्म के समय सामान्य रहते हैं और बाद में उम्र में रोग के लक्षण होते हैं जो उम्र बढ़ने के साथ तेज होते रहते हैं, जिसके परिणामस्वरूप कभी-कभी जीवन की हानि होती है। इस तरह के विकार दुर्लभ दिखाई देते हैं, हालांकि, अगर नियत समय में उन पर ध्यान नहीं दिया गया तो यह बहुत बड़ी समस्या बन सकती है। दुनिया भर में, जेनेटिक्स ने स्वास्थ्य सेवाओं और दुर्लभ विकारों की जांच में महत्वपूर्ण स्थान हासिल करना शुरू कर दिया है और अनाथ दवाओं का विकास महत्व प्राप्त कर रहा है क्योंकि कुल मिलाकर ये स्वास्थ्य पर भारी बोझ डालते हैं। हालाँकि, भारत, विशेषकर जम्मू और कश्मीर में इस तरह की प्रथाओं का अभी भी अभाव है।
हालांकि इस तरह के विकारों की पहचान और लक्षण वर्णन जटिल है, यह पता लगाना अपेक्षाकृत आसान है कि कोई विकार आनुवंशिक और वंशानुगत है या नहीं। यदि किसी विकार का पारंपरिक रूप से निदान नहीं किया जा सकता है या सटीक कारण ज्ञात नहीं है, तो इसमें एक आनुवंशिक घटक शामिल हो सकता है। विस्तारित परिवार में एक से अधिक व्यक्ति प्रभावित होते हैं (जिसमें पैतृक और नाना-नानी, चाचा, चाची, चचेरे भाई आदि शामिल हैं)। ऐसे विकारों से पीड़ित मरीजों और परिवारों को ज्यादातर समय पारंपरिक चिकित्सा से राहत नहीं मिलती है। उपचार के बावजूद, केवल आंशिक रोगसूचक राहत होती है या लक्षण गायब नहीं होते हैं और फिर से प्रकट होते हैं। इस तरह के विकार विशेष दृष्टिकोण की मांग करते हैं, खासकर यदि लक्ष्य परिवार और आबादी से बीमारी का उन्मूलन है।
Sunday, February 7, 2021
Precision Medicine: The future is here, where are we in Jammu and Kashmir?
With the exponential development in genomic approaches and advent of Next Generation Sequencing (NGS) and high end computational data analyses (big data in genomics), that has already facilitated screening of whole genome of an Individual in couple of hours itself, new domain in healthcare, “Precision Medicine” is emerging. With continuous improvement in the methodologies and, development and establishment of baseline datasets, in developed countries it has already secured its place in healthcare in various domains. In India, it is slowly making its way, primarily in Tier 1 cities. Precision Genomics offers healthcare providers important genomic information that can help personalize ones treatment, determine ones risk for certain genetic conditions, and even identify how well one may respond to certain medications and dosages. This helps reduce costs while providing a better experience overall. In addition, it has been observed that incorporation of genomics in healthcare, especially to address rare genetic conditions, has facilitated beyond limits in characterization, identification and therapeutic intervention.
It is important to mention that scientific evidences suggest that Indian populations have unique genepool that it has acquired over period of time due to different population specific natural selection scenarios and migrations etc. Over the period of time, due to our social practices, it may have resulted in unique population specific genetic signatures, many of which may be restricted to independent population groups (endogroups: based on religion, caste, language, ethnicity etc.). With upcoming research in the domain, these are being explored and many a such signatures are coming into light. Yet, a lot has to be done keeping in mind huge population diversity of the land and extensive geographical and social distribution of various endogroups countrywide.
The population structure of Jammu and Kashmir is also quite unique. J&K is mainly a hilly terrain, so majority of the population groups exist in small geographic pockets throughout the region and until recently these population groups have remained isolated which might have resulted in diverse but conserved gene pool over a period of time, as observed by various studies carried out by our research group. Subsequently, the health hazards and diseases in the region that affect the populations in the region, in addition to the common ones, hugely are different rare disorders, many remain uncharacterized, may be restricted to particular families or populations, yet to be understood and gain attention. In many of such disorders, that are not lethal in early age, individuals remain normal at birth and have disease symptoms later in age that keep on intensifying with advancement of age, sometimes resulting in loss of life. To highlight, geographic isolation and most of the population groups practicing and performing marriages preferentially within particular subgroups, result in high inbreeding. Adding to it, majority of population of Jammu and Kashmir practice consanguinity (i.e. marriage with in the family). It is a known fact that high consanguinity cause high incidence of rare genetic disorders. In light of such population structure in J&K, a high incidence of rare genetic disorders is expected in the region, to the extent, these rare disorders start to appear like an epidemic in isolated areas. Carrying this information to general public is an important component in the maintenance and control of such disorders. It is need of the day that not only population residing in urban areas but remote areas too are educated about genetic disorders as well as practice of high consanguinity especially, in situations when incidence of disorders is reported in families.
With this background, Human Genetics Research Group at School of Biotechnology at Shri Mata Vaishno Devi University, Katra, with support from collaborators, has initiated a project called “Project JK-DNA” (www.jkdna.in). The purpose of the project is to provide an online open access resource with the goal of aggregating and harmonising both Human Exome and Genome sequencing data from population of J&K through its genome sequencing projects (Next Generation Sequencing), published resources or public datasets, and making summary data available for the use of wider scientific community especially medical researchers in J&K and India. HGRG SMVDU has plans to pool NGS datasets, generated with collaborators from Institute of Human Genetics and School of Biotechnology, University of Jammu, for better and higher genomic resolution. The portal will also feature various scientific outcomes in the domain, from the region, in simple and layman’s terms for the knowledge and awareness of the common masses.
About HGRG:
Human Genetics Research Group (HGRG) is established at the School of Biotechnology, Shri Mata Vaishno Devi University Katra, Jammu and Kashmir, India. HGRG team, comprised of researchers with enhanced skill sets, is working in the area of Human Evolutionary Genetics, Rare Undiagnosed Genetic Disorders and Complex Genetic disorders in the Human population of Jammu and Kashmir. The group has received research grants from various external Funding agencies: DST SERB GoI; UGC GoI, CSIR GoI; National Geographic Society, USA. Group has high-impact scientific research publications and patents to their credit.
Saturday, January 2, 2021
Jammu and Kashmir Healthcare System needs Genetic Counselling and Molecular Medicine integration.
Tuesday, February 5, 2019
Rare diseases otherwise, are common in Jammu and Kashmir, India
Jammu and Kashmir is mainly a hilly terrain, so majority of the population groups exist in small geographic pockets through out the region. With geographic isolation and most of the population groups practicing and performing marriages preferentially within particular subgroups, result in high inbreeding in the region. Adding to it, majority of population of Jammu and Kashmir practice consanguinity (i.e. marriage with in the family). Scientific evidences now confirm that high consanguinity cause high incidence of rare genetic disorders. In light of such population structure in J&K, a high incidence of rare genetic disorders is expected in the region. Unfortunately, due to lack of good clinical and diagnostic resources, many of these have not been diagnosed or misdiagnosed.
In many of such disorders, that are not lethal in early age, individuals remain normal at birth and have disease symptoms later in age that keep on intensifying with advancement of age, sometimes resulting in loss of life. These disorders as such appear rare however, if unattended in due course may turn out to be huge problem. Worldwide, Genetics has started to attain key position in healthcare services and rare disorders screening and Orphan drug development is attaining importance as altogether these pose huge health burdens. However, such practices are still lacking in India, especially Jammu and Kashmir.
Understanding the basics of inheritance is essential as it helps to figure out the plausibility of a disorder as an inherited disease or genetic disease. For a brief overview, Deoxyribonucleic Acid (DNA) contains biological instructions (called the genes) for the various functions in the human body. As DNA is inherited, these instructions are inherited from parents to children. Sometimes, if an error occurs in a gene (mutation), that could be by chance, the biological instructions are affected or changed, resulting in a disease situation. And once this change appears, may be inherited to next generation and in due course mutation and disease keeps accumulating in the family. It may attain alarming proportions if unchecked as we had seen in Arai Village. So, it is very critical to identify families where such disorders exist. Though identification and characterization of such disorders is complicated, it is relatively easy to find if a disorder is Genetic or hereditary. The rule of the thumb is, if a disorder could not be diagnosed conventionally or the exact cause is not known, might have a genetic component involved. Patients suffering from such disorders most of the times do not respond to conventional therapy or despite treatment, partial relief or symptoms do not vanish and reappear. The main key component: more than one person is affected in extended family (that involves, paternal and maternal grandparents, uncles, aunts, cousin etc). Such disorders ask for special approach and I invite sharing such information at swarkar.sharma@smvdu.ac.in or sawerkar@gmail.com, to help you or the family in better understanding.
Dr. Swarkar Sharma, Ph.D.,
Human Genetics Research Group,
Shri Mata Vaishno Devi University Katra, India.





