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5-year-old ‘butterfly’ boy at PGI for treatment

posted Apr 13, 2018, 10:34 PM by Vinod Scaria   [ updated Apr 13, 2018, 10:38 PM ]

By Shimona Kanwar 
CHANDIGARH: A five-year-old suffering from dystrophic Epidermolysis Bullosa (EB), a painful and rare genetic skin disease, is being treated in PGI. Kids with EB are often referred to as ‘butterfly children’.
The kid has a new genetic alteration, which caused the rare skin disease. A collaborative research between the Institute of Genomics and Integrative Biology (IGIB), New Delhi, and PGI has been able to uncover some novel variants in India causing EB. Consequently, molecular diagnosis and prenatal screening have recently helped one such case to terminate the pregnancy as the feotus was found to have a genetic mutation for the rare genetic condition, which makes the skin extremely fragile, almost like a butterfly’s wing. The ‘butterfly kids’ are prone to blisters.

In the area of genetic skin diseases, IGIB has been collaborating with the department of dermatology, PGI, and has been able to solve a number of cases of such diseases with molecular diagnosis. PGI has 40 families affected by this rare skin disease.

In this rare condition, the skin becomes fragile and breaks down in case of any minor pressure or trauma. EB is caused due to mutations, which affect the proteins involved in the architecture and anchoring of the skin layers. The disease has multiple levels of severity (less to moderately severe i.e. dystrophic). People with severe form EB can ultimately die.

“In the recent paper, we described the utility of genomics approach (whole exome sequencing). This approach makes it cost-effective, time-effective and efficient for clinical applications,” said Dr Vinod Scaria, senior scientist, IGIB.

The authors including Dr Rahul Mahajan and Dr Sanjeev Handa from the dermatology department, PGI, have described how this genomic approach could enable diagnosis, prognosis as well as prevention of the disease through appropriate prenatal testing, using the case example of two families.

“In case of both the families, the identification of the genetic variants confirmed clinical diagnosis. In the second family, the identification of novel variants also offered them a possibility to avail prenatal genetic testing,” said Dr Scaria.

TNN | Updated: Apr 12, 2018, 11:13 IST

An anomaly that could kill - AS Jayanth in The Hindu

posted Jul 25, 2017, 8:21 PM by Vinod Scaria   [ updated Jul 25, 2017, 8:21 PM ]

Primary immune deficiency disorder could spark prolonged or frequent illness among children

“It is quite normal for a child to develop upper respiratory infections if he or she is exposed to a new atmosphere, like school. However, if the child doesn’t become normal even after repeated courses of medication or if frequent health issues due to infection are noticed, it could be a case of primary immune deficiency disorder,” says Dr. Geeta.

One of the reasons for this is the high incidence of marriages consanguineous marriages, especially in Malabar, she says. The parents of the boy from Malappuram were relatives and their elder son had died in similar conditions earlier. The problem could not be diagnosed then.

Of late, more children are recognised to have such disorders. According to doctors, 70 such cases were diagnosed from the Malabar in the past three years. It could also render children susceptible to malignancies such as cancer and autoimmunity issues.

The awareness about it, however, remains less, says Mohandas Nair, associate professor, Department of Paediatrics, medical college. “Doctors need to know when they should suspect a case of primary immune deficiency disorder. If the disorder is not diagnosed in the first instance, the children don’t stand a second chance,” he says.

http://www.thehindu.com/todays-paper/tp-national/tp-kerala/that-infection-in-your-child-could-be-fatal/article19291865.ece
The Institute of Maternal and Child Health (IMCH) at Government Medical College Calicut



Interpretation of a malady: how scientists zeroed in on one family's rare and crippling disease

posted Jun 7, 2017, 11:20 PM by Vinod Scaria   [ updated Jun 7, 2017, 11:21 PM ]

The poignant story of an Agra family, where six children have the Nalband mutation. Reports on how a group of scientists linked it to a rare and crippling neurological disease .

It’s been two years since Mohammad Nazir, 44, petitioned the government that six of his children be euthanised. Nazir and his wife Tabassum’s desperate plea to terminate the lives of their children was preceded by 15 agonising years of watching six of their eight children debilitated by a malevolent disease that destroys their neurons and steadily wastes away their muscles.



आनुवांशिक बीमारियों की जांच के लिए मेडिकल कॉलेज खोल रहा रिसर्च लैब

posted Jun 7, 2017, 11:15 PM by Vinod Scaria   [ updated Jun 7, 2017, 11:18 PM ]

Bhaskar News Network | Jun 01, 2017, 04:45 IST

फलोदीके कालरां, मोखेरी लोर्डियान गांवों में आनुवांशिक बीमारी स्पाइनो सेरिबेलर एटैक्सिया से पीड़ित कुनबा सामने आने के बाद डॉ. एसएन मेडिकल कॉलेज ने जल्द ही क्षेत्रीय आनुवांशिक अनुसंधान प्रयोगशाला खोलने का निर्णय लिया है। ताकि शहर में इस बीमारी के साथ ही अन्य आनुवांशिक बीमारियों की जांच की सुविधा मिल सके।

रिसर्च लैब के लिए जगह का निरीक्षण किया गया। बाद में डॉ. एसएन मेडिकल कॉलेज में बनी सेंट्रल रिसर्च लैब को उपयुक्त मानते हुए चिह्नित किया गया। गौरतलब है कि दैनिक भास्कर के 21 मई के अंक में ‘आनुवांशिक बीमारी से ग्रसित एक कुनबा, पैरों पर खड़े नहीं हो पाते 9 लोग, 4 की हो चुकी मौत’ शीर्षक से खबर प्रकाशित कर देश में पहली बार इस तरह का मामला उजागर किया था। शेष| पेज 12

डॉ.एसएन मेडिकल कॉलेज में आनुवांशिक बीमारी पर शोध कर रहे डॉ. मनीष पारख ने बताया कि की रिसर्च लैब को स्थापित करने के लिए जयनारायण व्यास विश्वविद्यालय के बॉटनी विभाग के प्रोफेसर डॉ. प्रवीण गहलोत और असिस्टेंट प्रोफेसर डॉ. कल्पेश टाक ने सहयोग देने के लिए स्वीकृति दी है। डॉ. गहलोत और डॉ. टाक ने डॉ. मनीष पारख की टीम से विचार-विमर्श कर कॉलेज की टीम के साथ कॉलेज में उपलब्ध उपकरण और संसाधनों के बारे में जानकारी ली। डॉ. पारख ने बताया कि रिसर्च लैब खुलने से पहले टीम जयनारायण व्यास जाकर ट्रेंनिग लेंगी। डीएनए और आरएनए को अलग करने की विधि को सिखाएंगे।

स्थापना के लिए 6 जून को दिल्ली से आएगी टीम

रिसर्च लैब को स्थापित करने और यहां की वस्तु स्थिति से अवगत होने के लिए दिल्ली से सीएसआईआर के सीनियर साइंटिस्ट डॉ. विनोद स्कारिया डॉ. श्रीधर सिवासुब आएंगे। उसके बाद जोधपुर से रिसर्च लैब में काम करने वाली टीम दिल्ली जाकर ट्रेंनिग लेगी।

भास्कर में 21 मई को प्रकाशित।

स्पाइनो सेरिबेलर एटैक्सिया पीड़ितों के सामने आने पर निर्णय



Research on genes rules out ailment in youngest sibling (Umesh Isalkar in Times of India Oct 6, 2016)

posted Oct 6, 2016, 12:18 AM by Vinod Scaria   [ updated Oct 6, 2016, 12:18 AM ]

Finding a rare, genetic mutation is a tough task, and expensive too.
A pan-India doctors' and researchers' consortium came to the Kapse's rescue when they wished to have another child.

During the time when Sayli and Siddhant's initial treatment at D Y Patil Medical College and Hospital in Pimpri, the treating dermatologist researched on genetic diseases along with scientists at the Institute of Genomics and Integrative Biology (IGIB) in New Delhi, a premier Institute of Council of Scientific and Industrial Research (CSIR).

"We went in for something called whole Exome Sequencing that means sequencing the entire coding region of the person's DNA. We did this for the entire all the four family members. The cost of this procedure, which runs into lakhs, was borne by IGIB," said dermatologist Aayush Gupta, the siblings' doctor. In a year, Gupta and other researchers at IGIB were able to find the exact cause of the disease.


Disruptive transformation. Sridhar Sivasubbu and Vinod Scaria (LiveMINT Feb 16 2016)

posted Jun 20, 2016, 4:24 AM by Vinod Scaria

Very few technologies in the biology space have the ability to bring about disruptive transformation and capture the imagination of scientists, clinicians, policymakers and ordinary people equally. Gene editing is one such technology that has been in the news lately for its potential applications in the realms of basic biology, biomedical sciences and agriculture. This technology holds promise not only for treatment of human diseases through correction of gene defects in cells, but also has potential for improving agricultural yields, producing disease- and pest-resistant animals and crops, and for producing organisms that can synthesize specific products of commercial or medicinal importance.

Studying genome sequencing of over 90-year-olds, centenarians. G N Prashanth (Deccan Herald Jan 05, 2015)

posted Jun 20, 2016, 4:20 AM by Vinod Scaria

Dr Sridhar Sivasubbu, Scientist at the Institute for Genomics and Integrative Biology (IGIB), New Delhi, and his lab are deeply involved in human genome sequencing, which helps in use of personal genomes for precision medicine in humans.

They are undertaking an effort that was first launched in the United States in the 1980s, where the world’s biggest collaborative project in biology - the Human Genome Project (HGP) - was conceived. In 2003, the project was declared complete after the sequencing of the human genome, which has benefits in molecular medicine, energy and forensics. In an interview to Deccan Herald’s G N Prashanth, Dr Sivasubbu outlines IGIB’s and India’s journey in genome sequencing.

Should you take that genetic test ? Jacob Koshy (The Hindu May 15, 2016)

posted Jun 20, 2016, 4:10 AM by Vinod Scaria   [ updated Jun 20, 2016, 4:23 AM ]

Full-text article online http://www.thehindu.com/opinion/op-ed/should-you-take-that-genetic-test/article8601156.ece 

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