Nagwa Abdel Meguid
Nagwa Abdel Meguid | |
|---|---|
| Occupation | Geneticist |
| Years active | Not specified |
| Known for | Research on fragile X syndrome, Autism, genetic mutations in Egyptian population |
| Awards | L’Oréal UNESCO Award for Women in Science (2002), National Award for Scientific Excellence (2009), National Research Centre Appreciation Prize in Medical Sciences (2011), Distinctive Arab Female Scientist Prize, Scientific Excellence in Advanced Technology (2008) |
Nagwa Abdel Meguid is a distinguished Egyptian geneticist who was honored in 2002 with the L’Oréal UNESCO Award for Women in Science for Africa and the Middle East. Her investigations have pinpointed crucial genetic mutations responsible for conditions such as fragile X syndrome and Autism.
Meguid earned her doctorate in Human Genetics, specializing in clinical genetics, neurodevelopmental disorders, human DNA technologies, and dysmorphology.
Life
She completed her studies at Arabian Gulf University and holds a fellowship from Uppsala University.
Education
Meguid directs a research laboratory focused on DNA and biochemical alterations linked to genetic conditions including autism and fragile X syndrome. She leads the Department of Research on Children with Special Needs at Egypt’s National Research Center (NRC) and occupies the role of Senior Geneticist at the Genetics Institute based in Pasadena, California.
Her professional affiliations include membership in the Regional Bio-Ethics Society as well as participation in Gender Research in Africa into Information Communication Technologies for Empowerment (GRACE).
Awards
Her contributions to genetics have been recognized with several notable honors: the National Award for Scientific Excellence (2009), the National Research Centre Appreciation Prize in Medical Sciences (2011), the Distinctive Arab Female Scientist Prize, and the award for Scientific Excellence in Advanced Technology (2008).
Research on Genetic Disorders
Meguid has played a pivotal role in uncovering gene mutations linked to prevalent genetic diseases within Egypt’s population, such as phenylketonuria, Duchenne muscular dystrophy, congenital sensorineural hearing loss, and fragile X syndrome. She has pioneered preventive strategies including heterozygous carrier detection and prenatal diagnostic techniques, particularly targeting autosomal recessive disorders that are common due to high rates of consanguineous marriages in Egypt.
Fragile X Syndrome and Autism Research
Meguid was the first to report that fragile X mutation affects Egyptian males at a rate of 0.9 per 1000, with a 6.4% incidence among males with intellectual disabilities. She attributed this elevated prevalence to delayed diagnoses combined with widespread consanguinity within Arab communities. Her research highlighted the importance of early intervention through specialized education and tailored treatment plans beginning at preschool age to enhance developmental outcomes.
Employing 1.5-Tesla magnetic resonance imaging (MRI), Meguid examined brain structure variations between individuals with fragile X syndrome exhibiting autistic traits and those diagnosed solely with autism. The results showed no significant differences in overall brain volume or cortical thickness between groups. Nevertheless, both cohorts demonstrated impairments in brain regions essential for social cognition, accounting for their social cognitive challenges. Patients with fragile X syndrome displayed unique patterns of social withdrawal compared to autistic individuals but shared certain autistic features.
Additionally, Meguid developed a rapid molecular screening technique using modified polymerase chain reaction (PCR) to identify fragile X premutation carriers characterized by 55-200 CGG repeats within the FMR1 gene. In a sample of 53 male subjects, 16 exhibited abnormal CGG repeat expansions; family members were also found to carry premutations. Given that 66.6% of these families involved consanguineous unions, fragile X syndrome was frequently excluded as a diagnosis among consanguineous parents. However, early identification of carriers demonstrated potential to decrease affected births by facilitating timely intervention and management strategies.
Loss-of-Function Mutations in Branched Chain Ketoacid Dehydrogenase Kinase
Meguid discovered mutations within the Branched Chain Ketoacid Dehydrogenase Kinase (BCKDK) gene that are associated with epilepsy, autism, and intellectual disability in families with consanguineous relationships. Although this gene was initially linked to Maple Syrup Urine Disease (MSUD), these findings open avenues for potential treatment strategies targeting autism and epilepsy. The BCKDK enzyme modulates the phosphorylation state of the E1α component of the branched-chain ketoacid dehydrogenase (BCKDH) complex. Mutations present in a homozygous state lead to decreased BCKDK mRNA expression and protein levels, disrupting E1α phosphorylation and altering plasma amino acid profiles.
GJB2 Gene Mutation Causing Autosomal Recessive Non-Syndromic Hearing Loss
Meguid identified a previously unreported c.59delT deletion in the GJB2 gene, which encodes the connexin 26 protein, implicated in autosomal recessive non-syndromic deafness. This frameshift mutation results in an early stop codon at amino acid position 20, contributing to sensorineural hearing impairment observed in Egyptian pediatric patients.