Moot on 'so-called' rare genetic diseases concludes

A two-day conference on "Genetic, Metabolic and Chromosomal Disorders" concluded here on Saturday with an observation that `although such diseases are said to be rare, in reality they are not'. The moot held on the theme of "Making the voice of rare diseases heard" at Dow Medical College was organised by Dow University of Health Sciences(DUHS) in collaboration with Civil Hospital Karachi (CHK) and Pakistan Paediatric Association(PPA).
According to experts, genetic, metabolic and chromosomal disorders, collectively called "Inborn error of metabolism", are inherited disorders, transmitted from parents to offspring. They lead to mental retardation, impaired quality of life, death at early age and many other complications. Many of these disorders can be prevented and few can be treated. The conference, according to organisers, was an attempt to create awareness about these diseases among doctors, in particular and the public, in general.
Referring to the percentage of these diseases in Pakistan, audience was told that since no large scale study has been conducted in this regard, so far, exact data was not unavailable. However, keeping in view the high incidence of cousin marriages (almost 80 per cent), even if we take an incidence of one in 1,000 population to be affected, at one time between 18 to 20 million individuals are affected with the so-called `rare diseases, experts said. "Internationally and in USA between one in 20,000 and one in 5,000 are affected by these disorders. In Saudi Arabia, the incidence is one in 1,000 live births and in Qatar, the incidence is one in 1327," they added.
Leading Paediatrician and subject specialists presented their research papers on rare genetic diseases and discussed newer diagnostic and therapeutic modalities. The conference which was a blend of state-of-the-art lectures, panel discussions, medical quiz and poster competition was followed by question-answer sessions. The audience included, paediatrician, general practitioners, postgraduate and under graduate students, faculty members of DUHS and office-bearers of PPA. The conference was inaugurated by CHK medical superintendent Dr Jameel Siddiqui.