Dr. Muhammad Umair
M.Sc, M.Phil, PhD
Research Scientist at KAIMRC specializing in the molecular genetics of rare inherited disorders. Decoding rare genetic disorders to enable early diagnosis and targeted therapies.
M.Sc, M.Phil, PhD
Research Scientist at KAIMRC specializing in the molecular genetics of rare inherited disorders. Decoding rare genetic disorders to enable early diagnosis and targeted therapies.
I am Dr. Muhammad Umair, a Research Scientist and Team Leader in the Medical Genomics Research Department at King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.
With a PhD in Biochemistry and Molecular Biology and international training at Technical University Munich (TUM) and Helmholtz Zentrum Neuherberg, Germany, I specialize in the molecular genetics of rare inherited disorders. My work bridges clinical genetics and translational research.
Over the past decade, I have contributed to the identification of 27 novel disease-causing genes, published over 200 peer-reviewed articles with a cumulative impact factor exceeding 2000, edited 2 books, and led several high-value research projects. My passion lies in uncovering the genetic basis of unsolved cases and translating genomic insights into early diagnosis, patient care, and future therapeutic interventions.
Identifying novel genes responsible for rare inherited disorders using Next-Generation Sequencing (NGS).
Characterizing the biological impact of genetic variants through advanced molecular biology techniques.
Translating genomic findings into clinical solutions for early diagnosis and targeted patient care.
Major Funded Projects
Principal Investigator
Principal Investigator
Co-Principal Investigator
Co-Principal Investigator
Co-Principal Investigator
Co-Principal Investigator
Co-Principal Investigator
Co-Principal Investigator
Co-Principal Investigator
Co-Principal Investigator
Co-Principal Investigator
Principal Investigator
Co-Principal Investigator
Direct contribution to the identification and functional characterization of genetic variants, translating complex genomic data into clinically recognized disorders.
Homozygous mutations in NAV3 have been linked to this novel syndrome, characterized by poor or absent speech, dysmorphic facies, and behavioral abnormalities.
A comprehensive list of all 27 identified genes representing significant contributions to rare disease genetics.
Genetics (AZSP 2021)
MEGMA Symposium 2023
Clinical Genetics 2022–23
TU Munich, Germany
Umair M, Rafeeq M, Alam Q. (2024). SPRINGER Nature, April 13, 2024.
Alam Q, Rafeeq M, Umair M. (2025). Taylor & Francis, 10 September 2025.
GeneReviews®, University of Washington, Seattle (2023)
PMID: 37319253
In: Rare Genetic Disorders, Springer (2024)
In: Drug Targets for Plasmodium Falciparum, Springer (2024)
GeneReviews®, University of Washington, Seattle (2025)
Bookshelf ID: NBK615089
In: Innovations in Molecular Diagnostics, Taylor & Francis (2025)
Grant Date
16 October 2024
Registration Date
11 October 2024
Inventors
Dr. Alaa Hamed Habib, Dr. Farhan Ahmad Khan, Dr. Misbahuddin Rafeeq, Dr. Muhammad Barkaat Hussain, Dr. Qamre Alam, Dr. Muhammad Umair
Classification
Class: 10 - Clocks and Watches and Other Measuring Instruments, Checking and Signaling Instruments
Member ID: 107336 • Middle East Working Group (MEWG)
View SocietyMember since 2020
Regular speaker at MEGMA 2023 and KAIMRC seminars focusing on rare disease diagnostics and NGS applications.
Active participation and presentation of research at the American College of Medical Genetics (ACMG) and ASHG annual meetings.
Molecular Syndromology
Journal of Gene Medicine & Rare
Saudi NIH Project Reviewer
Clinical Genetics
Frontiers in Genetics / Pediatrics
American Journal of Medical Genetics
Journal of Cellular & Molecular Medicine
Molecular Genetics & Genomic Medicine
Total Impact Factor: 2,001.774
200+ peer-reviewed articles published across high-impact journals including The Lancet, Nature, Brain, American Journal of Human Genetics, and more.
Global, regional, and national burden of oral conditions from 1990 to 2021
The Lancet
A programmed decline in ribosome levels governs human early neurodevelopment
Nature Cell Biology
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration
American Journal of Human Genetics
Global age-sex-specific mortality, life expectancy, and population estimates in 204 countries
The Lancet
Heterozygous and bi-allelic variants of NAV3 cause intellectual disability and developmental delay
Brain
ATP9A Deficiency Causes ADHD and Aberrant Endosomal Recycling
Molecular Psychiatry
De novo missense variants in PIP5KIγ underlie a neurodevelopmental syndrome
American Journal of Human Genetics