Dr. Musharaf Jelani

Email: mjelani.ibms@kmu.edu.pk | Phone: +92 333 5207053

About me

Dr. Musharraf Jelani is a Professor of Molecular Biology and Genetics at the Institute of Basic Medical Sciences, Khyber Medical University (KMU), Peshawar. A dedicated scientist and academic leader, his career is defined by a commitment to advancing the understanding, diagnosis, and management of hereditary disorders, with a profound focus on the populations of Khyber Pakhtunkhwa.

He earned his PhD in Human Molecular Genetics from Quaid-I-Azam University, Islamabad, and launched his academic career at KMU. His expertise was further honed during a significant tenure (2012-2018) at King Abdulaziz University, Jeddah, where he served as a faculty member and Research Associate at the prestigious Princess Al-Jawhara Al-Brahim Centre of Excellence. In this role, he specialized in the molecular diagnostics of rare diseases and supervised cutting-edge research projects.

Upon his return to Pakistan, Dr. Jelani served as an Associate Professor and Director of the Centre for Omic Sciences at Islamia College Peshawar, where he provided the strategic vision to launch pioneering academic programs in Genetics and Molecular Biology.

Dr. Jelani’s research is both impactful and translational. He has pioneered the establishment of molecular diagnostics for over 300 genetic disorders prevalent within the Pakhtun ethnicity, creating an essential resource for the region. At KMU, he leads diagnostic services for Beta-thalassemia and rare genetic conditions affecting multiple clinical specialties, including Ophthalmology, Neurology, and Cardiology. His investigative work has directly contributed to the landmark discovery of seven novel genes causing rare neurodevelopmental and dermatological diseases, expanding the global genetic lexicon.

As a mentor, he is deeply invested in cultivating future scientists, having successfully supervised over 40 MPhil and PhD scholars. Dr. Jelani’s work synthesizes advanced genomic diagnostics, groundbreaking discovery, and academic leadership, dedicated to improving patient outcomes and building national capacity in the field of medical genetics.

Employment

Khyber Medical University: Peshawar, Khyber Pakhtunkhwa, PK

2025-07-15 to present | Professor (Molecular Biology & Genetics, Institute of Basic Medical Sciences )

Islamia College Peshawar: Peshawar, Khyber-Pakhtunkhwa, PK

2018-12-07 to 2025-07-14 | Associate Professor (Centre for Omic Sciences)

King Abdulaziz University: Jeddah, SA

2012-11-22 to 2018-10-30 | Assistant Professor (Genetic Medicine )

Khyber Medical University: Peshawar, PK

2011-01-01 to 2012-11-22 | Assistant Professor (Biochemistry, Institute of Basic Medical Sciences)

Next Generation Sequencing and Rare Mendelian Disorders

2014-02 to present | Grant
Deanship of Research King Abdulaziz University (Jeddah, SA)

Thalidomide confers therapeutic benefit in beta thalassemia patients by enhancing hemoglobin and hematopoietic gene expression: A non-randomized clinical trial.

Whole exome sequencing: Unlocking the molecular diagnostic odyssey in Pakhtun ethnic group of Pakistani population.

Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing.

Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families

A homozygous variant in ARHGAP39 is associated with lethal cerebellar vermis hypoplasia in a consanguineous Saudi family.

A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family

Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases

Phenotypic Classification of Eye Colour and Developmental Validation of the Irisplex System on Population Living in Malakand Division, Pakistan

Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes

Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families