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KFMC / Home / Media Center / . / Hopkins University Recognizes KFMC Discovery as “Alwadei Syndrome”

Hopkins University Recognizes KFMC Discovery as “Alwadei Syndrome”

1/27/2019 12:00 AM

 

The American University of Johns Hopkins, a pioneer in Genetics, recognized "Alwadei Syndrome" discovered at KFMC National Neuroscience Institute in 2014 by Dr. Ali Alwadei, a Consultant Pediatric Neurologist and Epileptologist. The syndrome was also recognized by all worldwide-accredited Genetic Medicine references; and published in one of the famous and registered scientific journal in 2016. In 2017, Johns Hopkins University named the syndrome as "Alwadei Syndrome".

In this regard, Dr. Alwadei said, "The disease was detected by examining a child suffering from severe epileptic seizures. All known tests were conducted but no diagnosis was identified. With God help, then by virtue of gene mapping, a gene unknown for causing disease on chromosome 9 was isolated. Efforts through examining the parents and siblings were exerted for more than two years to assure that such a gene is causing the disease. Two similar cases were then identified in my clinic. The gene was proven to cause the disease in all patients and parents in an undoubted professional scientific manner to be officially recognized as a new human disease."

"The most prominent symptoms and causes of this syndrome, in respect of ideal cases, are intractable epilepsy developed at the age of 5 to 6 months; acquired microcephaly; imbalance; thinning and irregularities of corpus callosum and absence of the splenium of corpus callosum; and scoliosis. This disease, which was detected by advanced genetic examination, is attributed to the mutation in a gene called RUSC2 on chromosome 9, specifically 9p13.3. The severity of that disease varies according to the place of mutation in the said gene", he added.