The Council for Scientific and Industrial Research has sequenced the entire genomes of 1008 Indians in six months, under a mission that was aimed at demonstrating capability and scalability of Indian research institutions. This initiative, called IndiGen, was undertaken by two CSIR institutions — Institute of Genomics and Integrative Biology (IGIB), Delhi and Centre for Cellular and Molecular Biology (CCMB), Hyderabad.

A workshop on Genomics in Clinical Medicine was held at Aster Medcity. This workshop was conducted by researchers at the CSIR Institute of Genomics and Integrative Biology(CSIR IGIB), one of the premier national research organisations in area of Genomics, in association with Aster Medcity , Aster MIMS, SAGREMS and the Cochin Oncology Group.

Dr Harish Pillai, CEO of Aster Hospitals and Clinics mentioned how collaborative medicine forms the basis of modern healthcare and highlighted the importance of genomics is in Kerala. Speakers included Dr Sridhar Sivasubbu, Dr Vinod Scaria , Dr Binukumar BK and Dr Sivaprakash Ramalingamfrom the CSIR IGIB and Dr. Atul Thatai from Dr Lal Pathlabs.

The workshop discussed the basics of Genomics and it's various clinical applications in diagnosis, prognostication, treatment as well as prevention. The workshop also discussed the GUARDIAN programme, one of the largest networks of clinicians and researchers in India working on Rare Genetic diseases spearheaded by CSIR IGIB . The workshop discussed case examples of how genomic studies in patients have enabled accurate diagnosis, and management of medical conditions, apart from discovering new genetic diseases in India. The workshop also discussed advances in molecular diagnostics as well as opportunities in treatment of genetic diseases using genome editing tools like CRISPR-Cas9 and TALENS, presently being explored at CSIR IGIB.

Clinicians and researchers from a variety of medical and research institutions in Kerala, apart from members from the diagnostic, therapeutic as well as genomic industry participated in the workshop .

The workshop concluded with an open discussion on the various aspects collaborating in genomic studies and how such collaborations could potentially uncover genetic disease burden in Kerala and enable precise diagnosis and management of such conditions.

News coverage on the MeetingTHE HINDU : Workshop on genomics held
https://www.thehindu.com/news/cities/Kochi/workshop-on-genomics-held/article26054873.ece

Researchers at Delhi’s Institute of Genomics & Integrative Biology (CSIR-IGIB) have for the first time used zebra fish to model the rare genetic disorder — Rubinstein Taybi Syndrome (RSTS) — seen in humans. They have also used two small molecules to partially reverse some of the defects caused by the disorder in zebrafish, thus showing them to be an ideal animal model for screening drug candidates. There is currently no cure or treatment for the disorder.

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.

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

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.

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

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).