Siddiqi syndrome: Narang Mandi family suffering from unique disease

Islamabad : A group of scientists from Pakistan, Europe and Singapore have jointly discovered and diagnosed a novel disease in Pakistani family living in Punjab.

The affected family was living in remote area of Narang Mandi in which out of eight siblings five were found to be affected with this unique disease. The disease started at the age of six months with the hearing loss and later leading to disturbances in the sensory and motor function. The patients became completely bed ridden at the age of around 10-12 years.

Dr. Saima Siddiqi from Institute of Biomedical and genetic Engineering Division Islamabad, started working on the clinical and genetic evaluation of the family since 2009. By using the modern sequencing technique of Whole Exome Sequencing, the scientists discovered the change in genetic code in the FITM2 gene. FITM2 was originally found to be involved only in fat droplet formation in mice. In the patients no such phenotype was evident with normal fat distribution all over the body.

Later on the patients were re-evaluated in the Singapore National Hospital to confirm the disease onset and progression. The disease was named as Siddiqi Syndrome after Dr. Saima Siddiqi who initiated the research and genetically evaluated the family. The research was published in Disease Model and Mechanism in February 1, 2017. On Rare Disease day (28 February) the syndrome was highlighted on all major Science news websites (Science Daily, EuroAlert, Medical Press) to show the importance of research in rare diseases.

The Institute of Biomedical and Genetic Engineering (IBGE) was established in 1992 under the supervision of Dr Syed Qasim Mehdi, who was also designated as head of this lab that gradually became the torch bearer in the field of human disease genetics and population genetics.

Dr. Saima Siddiqi, joined IBGE in 1999 and got involved in the research activities about population genetics and started project on deafness genetics. In 2009 she was awarded with Post-doc award from HEC to carry on her research on the deafness disease under the supervision of world known deafness expert Dr. Hannie Kremer in Holland. While working on syndromic deafness she discovered this novel disease.

A lot of research work has been undertaken in IBGE on genetics exposing the uniqueness in its genetic landscape. Dr Siddiqi has identified cases of phenylketonuria and cases of enzyme deficiency syndromes (these conditions can be treated when identified in the start of symptoms).

She said the patients were undiagnosed for years and now they have reached at stage where they cannot be treated any more.

"In the recent years, where the world is talking about the personalised medicine and whole genome sequencing, we are far behind and we need to have setups in all major hospitals about the New Born screening programmes so that we can avoid the complications for such metabolic conditions," she said.

Dr Siddiqi also asked HEC to provide substantial amount of funding to basic research, because this basic research might have future implications for improving diagnosis and treatment for many other common diseases.