RIYADH, 20 September — A nationwide screening of newborn babies has brought to light high incidence of genetic disorders in the Kingdom compared to Western countries.
This was disclosed to Arab News by Dr. Stephen R.Schroeder, executive director of Prince Salman Center for Disability Research (PSCDR). He said preliminary screening of 10,000-15,000 babies in Riyadh, Jeddah, Qassim and Abha has shown that these genetic disorders could have been the result of consanguineous marriages.
According to the principal investigators, Dr. Colin Hodgkinson and Dr.Vandana Bharucha, the incidence of genetic disorders among children occurs at a rate that is between five and 40 times higher than in many other countries.
"Even the so-called rare‚ genetic disorders seem to occur with greater frequency. Anecdotal evidence from tertiary medical centers in Saudi Arabia, such as KFSHRC, suggests that among these diseases are several that cause neuromuscular disorders (in which the muscles of a child develop progressively weaker eventually leading to complete incapacity, profoundly low vision and hearing loss," the investigators said.
Dr. Schroeder ,who is also the principal scientist at KFSHRC, observed that their goal is to screen 100,000 babies this year in coordination with the King Faisal Specialist Hospital & Research Center. The number of samples will be increased to 250,000 next year and approximately 400,000 by 2004.
He said newborn screening program is one of the 11 different projects undertaken by PSCDR. Of these, three are nearing completion, while the rest are in the initial stages. They form part of the center’s research program, which it funds to enable researchers in the Kingdom or abroad to engage in projects related to congenital disorders.
Dr. Schroeder said some of the other projects that are in an advanced stage include one on speech and language development in children. "It is a pioneering work and represents the first attempts to develop and use some of these assessment tools in Arabic for the benefit of children in Arabic-speaking countries."
Referring to their research funding program, he said there are five categories of grants ranging from SR2 million or more to less than SR300,000.
Since PSCDR is seeking to position itself as a premier research center in the field of disability research, it is looking for partners from the public and private sectors to pitch in with donations.
"We are planning to spend SR 83 million over a five-year period on newborn screening for metabolic disorders," Dr. Schroeder said.
" We have already achieved a breakthrough by introducing tandem mass spectrometry for quicker diagnosis of genetic disorders. And through pre-implantation diagnosis we can separate healthy genes from defective ones, making it possible to cure genetic disorder before the birth of a baby, the executive director added.
