The department is uniquely positioned through its affiliation with the university hospital, AKUH. With expertise in basic sciences to tackle pressing health problems in a translational manner, the faculty are equipped to train and teach across programmatic levels. It has succeeded in the delivery of a well-designed curriculum and cutting-edge research aligned with the AKU's thematic areas.
Going forward, the department is committed to enhance scholarship and research responsive to the needs of the country and enhance the success of its students through transformative learning experiences.
With investment in infrastructure and standardized processes and through energized graduate programmes, including the new MPhil in Biological and Biomedical Sciences, BBS is positioned to become a thriving habitat for quality research and training.
Submissions from 2024
The ongoing evolution of mentorship: Advancing the formal mentorship program at AKU-SONAM, Rehana Rehman, Tazeen Saeed Ali, Saira Khalid, and Rahila Ali Mazhar
Identification of single nucleotide polymorphism of anti mullerian hormone (AMH) polycystic ovary syndrome, Laiba Rehmat
Building excellence into medical and health professional education programs, James Rourke, Kulsoom Ghias, Pat Lilley, and Ronald Harden
Key predictors of fertility: Exploring the role of Vitamin-D, Huma Salahuddin, Samar Zaki, Mussarat Ashraf, and Rehana Rehman
Next generation sequencing of host mitochondrial DNA to elucidate host response in COVID-19 crisis, Shazveen Saleem
Faculty application and perceived effectiveness of cognitive psychology principles in medical education. A mixed method study, Shaur Sarfaraz, Ambreen Surti, Rabiya Ali, Rehana Rehman, Artak Heboyan, and Naseer Ahmed
Generation of a ZEB2 deficient human iPSC line (KICRi002A-4), Jens Schuster, Ambrin Fatima, Natalia Papadopoulos, Claudia de Guidi, Maria Sobol, and Niklas Dahl
Genetic variation in VDR alters immune response in COVID-19, Mishal Shaheen
MRAS in coronary artery disease-Unchartered territory, Pashmina Wiqar Shah, Tobias Reinberger, Zouhair Aherrahrou, Jeanette Erdmann, and Satwat Hashmi
Evaluation of the training program to train HIV treatment center staff in Pakistan, Sharaf A. Shah, Altaf A. Soomro, Nida Farooqui, Tehreem Ansari, and Rafiq Khanani
Effect of carum copticum benth and thymol on biochemical and behavioural alterations in alzheimer's disease, Ayesha Siddiqua
Age and sex related expression of RHO associated protein rock 1 & 2 in myocardial infarction, Hareem Siddiqui
Is anxiety related to oral examination scores of anatomy and physiology? A study of pre-clinical MBBS and BDS students, Ambreen Surti, Ambreen Usmani, Muhammad Raza Sarfraz, and Shazia Shakoor
Label free quantitative proteomic profiling of serum samples of intellectually disabled young patients revealed dysregulation of complement coagulation and cholesterol cascade systems, Soma Vankwani, Munazza Raza Mirza, Fazli Rabbi Awan, Muneeza Zafar, Arkadiusz Nawrocki, Muhammad Wasim, Haq Nawaz Khan, Hina Ayesha, Martin Rossel Larsen, and Muhammad Iqbal Choudhary
Closing the gap: An urgent need for newborn screening of organic acid disorders in developing countries, Soma Vankwani, Muhammad Wasim, and Munazza Raza Mirza
Molecular docking analysis reveals the promising role of apigenin as a potential treatment for neurological disorders, Muhammad Wasim, Syeda Rehana Zia, and Saara Ahmad
Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects, Elizabeth A. Werren, Guillermo Rodriguez Bey, Shahid Mahmood Baig, Purvi Majethia, Parneet Kaur, Siddaramappa J. Patil, Minal Kekatpure, Alexandra Afenjar, Leila Qebibo, Lydie Burglen, Hoda Tomoum, and Florence Demurger
Metaverse-powered basic sciences medical education: Bridging the gaps for lower middle-income countries, Syeda Samnita Batool Zaidi, Umer Adnan, Kadriye O. Lewis, and Syeda Sadia Fatima
Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism, Yassine Zouaghi, Anbreen Mazhar Choudhary, Saba Irshad, Khaleeq Ur Rehman Ur Rehman, Ambrin Fatima, Mariam Shahid, Nida Najmi, Muhammad Ansar, Federico Santoni, and Nelly Pitteloud
Upregulation of Nrf2 in myocardial infarction and ischemia-reperfusion injury of the heart, Sahar Zuberi, Hira Rafi, Azhar Hussain, and Satwat Hashmi
Machine-learning-based integrative -'omics analyses reveal immunologic and metabolic dysregulation in environmental enteric dysfunction, Fatima Zulqarnain, Xueheng Zhao, Yash Sharma, Phillip Fernandes, Najeeha Talat Iqbal, Najeeb Rehman, Kamran Sadiq, Zubair Ahmad, Romana Idress, Junaid Iqbal, Sheraz Ahmed, Aneeta Hotwani, Fayyaz Umrani, Syed Asad Ali, Sana Syed, Beatrice Amadi, and Paul Kelly
Submissions from 2023
Relationship between genetic variant of OXTR (Rs53576) and MTNR1B (Rs1387153) and symptoms of Psychological stress in females with gestational diabetes mellitus, Fatima Abid, Sadaf Ahmed, Shamoon Noushad, Sabah Farhat, and Syeda Sadia Fatima
The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans, Ilyas Ahmad, Juliane Lokau, Birte Kespohl, Naveed Altaf Malik, Shahid Mahmood Baig, Roland Hartig, Daniel Behme, Roland Schwab, Janine Altmüller, and Muhammad Jameel
Case report and literature review of an atypical polymyalgia rheumatica and its management, Saad Bilal Ahmed, Saara Ahmad, and Hanmei Pan
Editorial: Recent advances in vitamin D supplementation for improved reproductive endocrine and metabolic parameters, Faiza Alam, Aysha Habib, Mukhtiar Baig, and Rehana Rehman
SIRT1 and antioxidants in infertile females: Exploration of the role of vitamin D, Faiza Alam, Maheen Shahid, Sumaira Riffat, Ihsan Nazurah Zulkipli, Fatima Syed, and Mussarat Ashraf
Role of saffron and chamomile in Parkinson diseases, Fizzah Ali, Junaid Ahmed, and Saara Muddasir
Interplay of "leukemia inhibitory factor receptor gene" (rs3099124) polymorphism, leukemia inhibitory factor and ovarian steroids with unexplained infertility, Rabiya Ali, Mehir Un Nisa Iqbal, Rehana Rehman, and Taseer Ahmed Khan
An interplay of progesterone, leukemia inhibitor factor and interleukin-6 in the window of implantation; impact on fertility, Rabiya Ali, Taseer Ahmed Khan, Hina Gul, and Rehana Rehman
Role of oxidative stress in cancer cell death induced by natural/synthetic agents, Yousuf Tahir Ali
Genetic association of vitamin D receptor gene with female infertility, Mussarat Ashraf, Haq Nawaz Khan, Rabab Ibrahim, Maheen Shahid, Sher Khan, Ambrin Fatima, Saif Ullah, and Rehana Rehman
Long-COVID and its physical and neurological symptoms in adults: A systematic review, Abdul Mannan Baig, Sameera Rizvi, Shahla Pardhan, Joachim Gerlach, and Tazeen Saeed Ali
Burden of ocular abnormalities in patients with beta thalassaemia: A cross-sectional study, Rashid Baig, Nida Zahid, Faiza Kausar, Hina Israr Ahmed Qazi, Bushra Moiz, Shabneez Hussain, Aysha Habib, Fazal M. Arain, and Khabir Ahmad
Global diversity and antimicrobial resistance of typhoid fever pathogens: Insights from a meta-analysis of 13,000 salmonella typhi genomes, Megan E. Carey, Zoe A. Dyson, Danielle J. Ingle, Afreenish Amir, Mabel K. Aworh, Marie Anne, Ka Lip Chew, John A. Crump, Junaid Iqbal, Rumina Hasan, Sadia Shakoor, and Farah Qamar
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking, Ruizhi Duan, Dana Marafi, Zhi-Jie Xia, Bobby G. Ng, Reza Maroofian, Farhana Taher Sumya, Ahmed K. Saad, Haowei Du, Jawid M. Fatih, and Shahid Mahmood Baig
Molecular insights into infertile polycystic ovary syndrome by using mass spectrometry based proteomics, Sabeen Fatima
Exploring knowledge, attitudes and perceived myths towards foetal programming and factors affecting it among the public and health professionals in Pakistan: A needs assessment study, Syeda Sadia Fatima, Maheen Zakaria, Aliza Zakaria, and Ara Tekian
The immune paradox of SARS-CoV-2: Lymphocytopenia and autoimmunity evoking features in COVID-19 and possible treatment modalities, Joachim Gerlac, Abdul Mannan Baig, Mark Fabrowski, and Valentina Viduto
Beyond the Basics: Unraveling the Complexity of Coronary Artery Calcification, Satwat Hashmi, Pashmina Wiqar Shah, Zouhair Aherrahrou, Elena Aikawa, and Rédouane Aherrahrou
Tetra-ARMS-PCR assay development for genotyping of AGT rs699 T/C polymorphism, its comparison with PCR-RFLP and application in a case-control association study of cardiovascular disease patients, Misbah Hussain, Haq Nawaz Khan, Shahid Abbas, Ansar Ali, Muhammad Naeem Aslam, and Fazli Rabbi Awan
Quantitative morphometry and machine learning model to explore duodenal and rectal mucosal tissue of children with environmental enteric dysfunction, Zehra Jamil, Saman Siddiqui, Zia Mujahid, Zubair Ahmad, Romana Idress, Sheraz Ahmed, Fayyaz Umrani, Najeeha Talat Iqbal, Syed Asad Ali, Junaid Iqbal, and Sana Syed
Development of low-cost in-house tetra-ARMS-PCR assay for the screening of five CBS mutations found in Pakistani homocystinuria patients, Adila Khalil, Haq Nawaz Khan, Muhammad Wasim, Fazli Rabbi Awan, and Hina Ayesha
Should aspirin be replaced with ADP blockers and anti-GPVI to manage thrombosis?, Hafsa Khan, Tahira Ghulam, Naseer Ahmed, Muhammad Rafai Babar, Simon Dj Calaminus, and Muhammad Zuhair Yusuf
Dysregulation of metalloproteins in ischemic heart disease patients with systolic dysfunction, Noman Khan, Junaid Ullah, Satwat Hashmi, Arslan Ali, Amna Jabbar Siddiqui, Shahid Ahmed Sami, Syedah Saira Bukhari, Hasanat Sharif, Jalal Uddin, and Hesham R. El-Seedi
DPP8 selective inhibitor tominostat as a novel and broad-spectrum anticancer agent against hematological malignancies, Shohei Kikuchi, Akinori Wada, Yusuke Kamihara, Kosuke Okazaki, Paras Jawaid, Mati Ur Rehman, Eiji Kobayashi, Takeshi Susukida, Tomoki Minemura, and Yoshimi Nabe
Novel, thalidomide-like, non-cereblon binding drug tetrafluorobornylphthalimide mitigates inflammation and brain injury, Daniela Lecca, Shih-Chang Hsueh, Weiming Luo, David Tweedie, Dong Seok Kim, and Abdul Mannan Baig
Role of carum carvi in reducing depression and improving memory loss in temporal lobe epilepsy with hippocampal sclerosi., Syeda Arfa Mairaj
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders, Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S. Zaki, Matteo Ferla, Domenico Tortora, Saeid Sadeghian, Muhammad Jameel, and Shahid Mahmood Baig
Evaluation of MONOFER-induced hypersensitive reactions: A retrospective cohort study, Mahreen Muzammil, Ainan Arshad, Ahmed Ayaz, Muhmmad Umair Ihsan, Kashif Hussain, Muhmmad Yasir, and Hareem Rehman
Role of prostacyclin analogue in curbing thrombotic complications of type 2 diabetes mellitus, Syeda Pinar Nasir
Concise commentary: An imperfect 10—unexpected resolution of spontaneous colitis in serially endoscoped IL-10-/-mice, Amber Hanif Palla
Regular or DCAF2: How CRL4DCAF2 Affects IBD-related mucosal injury, Amber Hanif Palla
Cardiovascular disease risk stratification in the Pakistani population with and without metabolic syndrome: A single centre cross-sectional study, Amber Hanif Palla, Asad Saulat Fatimi, Salim S. Virani, and Syeda Sadia Fatima
Parental knowledge attitude and practices about chemical and medicinal poisons: A hospital based study from Karachi, Pakistan, Feroza Parveen, Naveed Ahmed, Sarwat Masud, Muhammad Umair Ihsan, Uzma R. Khan, and Nadeem Ullah Khan
Investigating expression of activating receptor ligands of natural killer cells in acute myeloid leukemia, Nishat Pervez
Age and sex specific responses of myocardial infarction, Kiran Rashid
Seeds of trust ripe as luscious fruits: Faculty mentorship forum at Aga Khan University Medical College, Rehana Rehman, Rahila Ali, Saira Khalid, and Tazeen Saeed Ali
Progression of dyad mentorship to work driven model: Is this a value addition?, Rehana Rehman, Tazeen Saeed Ali, and Rahila Ali
Genetic investigation of consanguineous Pakistani families segregating rare spinocerebellar disorders, Saadia Maryam Saadi, Elisa Cali, Lubaba Bintee Khalid, Hammad Yousaf, Ghazala Zafar, Haq Nawaz Khan, Muhammad Sher, Barbara Vona, Uzma Abdullah, and Ambrin Fatima
The hunger genes: Effect of methylation of genes regulating satiety in metabolicallyhealthy and unhealthy individuals, Fizza Salman
Impact of diarrhoea and acute respiratory infection on environmental enteric dysfunction and growth of malnourished children in Pakistan: A longitudinal cohort study, Azza Sarfraz, Zehra Jamil, Sheraz Ahmed, Fayyaz Umrani, Abdul Khaliq Qureshi, Sadaf Jakhro, Muhammad Sajid, Najeeb Rehman, Arjumand Rizvi, Najeeha Talat Iqbal, Sana Syed, Junaid Iqbal, Kamran Sadiq, and Syed Asad Ali
JAK/STAT and TGF-β pathway signaling in epithelial-tomesenchymal transition (EMT) of ebv-associated prostate cancer cell line, Asif Ali Shah
In memoriam: Prof. Dr. rer. nat. Jeanette Erdmann, Pashmina Wiqar Shah, Satwat Hashmi, Tobias Reinberger, Nadine Odenthal, Luis Eichelmann, Daria Kosenko, Ilyas Ahmad, Jaafar Al-Hasani, Till Joscha Demal, and Zouhair Aherrahrou
Identification of immune biomarkers in recent active pulmonary tuberculosis, Sobia Naz Shaukat, Eliseo Eugenin, Faizan Nasir, Rafiq Khanani, and Shahana Urooj Kazmi
Expression profile of KIR3DS1/KIR3DL1 receptors in association with immunological responses in TB, HIV and HIV/TB infected patients, Sobia Naz Shaukat, Faizan Nasir, Afsheen Raza, Rafiq Khanani, Shahab Uddin, and Shahana Urooj Kazmi
Genetic and antiretroviral drug resistance mutations analysis of reverse transcriptase and protease gene from Pakistani people living with HIV-1, Dilsha Siddiqui, Uzma Badar, Mahnoor Javaid, Nida Farooqui, Sharaf Ali Shah, Ayesha Iftikhar, Faisal Sultan, Fatima Mir, Syed Faisal Mahmood, and Syed Faisal Mahmood
The prevalence and risk factors for poor sleep quality amongst medical students: A cross sectional study, Qurat-Ul-Ain Virani, Humza Thobani, and Syeda Sadia Fatima
Need and challenges in establishing newborn screening programs for inherited metabolic disorders in developing countries, Muhammad Wasim, Haq Nawaz Khan, Hina Ayesha, and Fazli Rabbi Awan
A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability, Hammad Yousaf, Shagufta Rehmat, Muhammad Jameel, Rabab Ibrahim, Sohana Nadeem Hashmi, Ehtisham Ul Haq Makhdoom, Justyna Iwaszkiewicz, Saadia Maryam Saadi, Muhammad Tariq, Shahid M. Baig, and Ambrin Fatima
Association of the BB genotype of the ABO gene with the risk of acute myocardial infarction in hospital-based study, Farzana Abubakar Yousuf, Iqbal Azam Syed, Asal Khan Tareen, Khawar A. Kazmi, Jibran Sualeh Muhammad, and Mohammad Perwaiz Iqbal
Mass-spectrometric analysis of APOB polymorphism rs1042031 (G/T) and its influence on serum proteome of coronary artery disease patients: Genetic-derived proteomics consequences, Muneeza Zafar, Imran Riaz Malik, Munazza Raza Mirza, Fazli Rabbi Awan, Arkadiusz Nawrocki, Misbah Hussain, Haq Nawaz Khan, Shahid Abbas, Muhammad Iqbal Choudhary, and Martin R. Larsen
Combining genomics and functional studies to understand rare neurological disorders, Hijab Zahra
Submissions from 2022
In-silico analysis of interacting pathways through KIM-1 protein interaction in diabetic nephropathy, Fatima Abid, Z Rubab, Syeda Sadia Fatima, A Qureshi, Arfa Azhar, and A Jafri
Unassigned complex unique recombinant forms related to CRF36_cpx in children identified in an HIV-1 outbreak in Pakistan, Syed Hani Abidi, Dilsha Siddiqui, Syed Faisal Mahmood, Amna Rehana Siddiqui, Apsara Ali Nathwani, Aneeta Hotwani, Sharaf Ali Shah, Palwasha Khan, Rashida Abbas Ferrand, and Fatima Mir
Association between the baseline gene expression profile in periapical granuloma and periapical wound healing after surgical endodontic treatment, Muhammad Adeel Ahmed, Fizza Nazim, Khalid Ahmed, Muhammad Furqan Bari, Abdulaziz Abdulwahed, Ahmed A. AlMokhatieb, Yaseen Alalvi, Tariq Abduljabbar, Muhammad Nouman Mughal, and Syed Hani Abidi
Effects of nonpharmacological interventions on disruptive vocalisation in nursing home patients with dementia-A systematic review, Saad Bilal Ahmed, Alfredo Obieta, Tamsin Santos, Saara Ahmad Muddasir, and Joseph Elliot Ibrahim
Identification of Alzheimer’s disease related highly susceptible gene mutation in Pakistani population: A pilot study, Rabia Aiman
Obesity-associated metabolites in relation to type 2 diabetes risk: A prospective nested case-control study of the CARRS cohort, Mohammed K. Ali, Muhammad Masood Kadir, Unjali P. Gujral, Syeda Sadia Fatima, Romaina Iqbal, Yan V. Sun, K. M. Venkat Narayan, and Shafqat Ahmad
Evaluation of pharmaceutically compounded oral caffeine on the impact of medication adherence and risk of readmission among preterm neonates: A single-center quasi-experimental study, Gul Ambreen, Manoj Kumar, Amin Ali, Syed Akbar Ali Shah, Syed Muzaffar Saleem, Ayesha Tahir, Muhammad Sohail Salat, Muhammad Shahzad Aslam, and Kashif Hussain
The potential utility of lead compound, e18, in inhibiting docking of SARS-CoV-2 by inhibiting ACE2-B0AT1 complex, Faiq Amin, Sahar Zuberi, and Syeda Sadia Fatima
Association of microRNAs (miR-21, miR-374 and miR-126) with autophagy in malignant glioma, Wajiha Amin
Correlating biochemical and structural changes in the brain with clinical features in COVID-19, Abdul Mannan Baig
Loss of smell in COVID-19: Reasons for variable recovery patterns from anosmia, Abdul Mannan Mannan Baig
Killer cell immunoglobulin-like receptor profile in acute myeloid leukemia with heterogenous cytogenetic abnormalities and its association with clinical outcome, Fareena Bilwani, Fatima Iqbal, Tariq Moatter, Naureen Allani, Anila Rashid, Munira Moosajee, and Mohammad Khurshid
MCPH1: A novel case report and a review of the literature, Stefano Giuseppe Caraffi, Marzia Pollazzon, Muhammad Farooq, Ambrin Fatima, Lars Allan Larsen, Roberta Zuntini, Manuela Napoli, and Livia Garavelli
MTHFR-c 677C>T polymorphism and male infertility: An analysis in a cohort of Pakistani men, Tasneem Fatima, Usman Afzal, Saeeda Shaharyar, Shagufta Khan, Mussarat Ashraf, Wardah Rafaqat, Muhammad Rohan Kayani, and Rehana Rehman
Trigonella foenum-graecum methanolic extract on isolated smooth muscles and acetylcholinesterase enzyme: An in vitro and mechanistic in silico investigation, Muhammad Nabeel Ghayur, Mohnad Abdalla, Asaad Khalid, Saeed Ahmad, and Anwar Gilani
Analysis of differential gene expression of pro-inflammatory cytokines in the nasopharyngeal milieu of mild & severe COVID-19 cases, Unzela Ghulam, Fizza Nazim, Nida Farooqui, Syed Rizwan-Ul-Hasan, Khalid Ahmed, Abid Jamal, Hammad Afzal Kayani, Nouman Mughal, Azhar Hussain, Antonio Sarria-Santamera, and Syed Hani Abidi
Burden, clinical characteristics, risk factors, and seasonality of adenovirus 40/41 diarrhea in children in eight low-resource settings, Godfrey Guga, Sarah Elwood, Caroline Kimathi, Gagandeep Kang, Margaret N. Kosek, Aldo A M Lima, Pascal O. Bessong, Amidou Samie, Najeeha Talat Iqbal, and Zulfiqar Ahmed Bhutta
Role of environmental toxicants in the development of hypertensive and cardiovascular diseases, Ehsan Habeeb, Saad Aldosari, Shakil Ahmed Saghir, Mariam Cheema, Tahani Momenah, Kazim Husain, Yadollah Omidi, Syed A A Rizvi, Muhammad Akram, and Rais A. Ansari
Identification and functional analysis of variants associated with rare mendelian disorders in Pakistani population, Sohana Nadeem Hashmi
Targeting PI3K/AKT/MTOR pathway and anti-apoptotic protein xiap in chemotherapy-resistant colorectal cancer cells, Rozmeen Badruddin Husein
Practical approaches to improve vancomycin-related patient outcomes in pediatrics- an alternative strategy when AUC/MIC is not feasible, Kashif Hussain, Muhammad Sohail Salat, Shahzad Rauf, Manoj Rathi, Midhat Khan, Fizzah Naz, Wasif Ahmed Khan, Rahila Ikram, and Gul Ambreen
Enteroinvasive Escherichia Coli O96: H19 is an emergent biofilm-forming pathogen, Junaid Iqbal, Niharika Malviya, Jennifer A. Gaddy, Chengxian Zhang, Andrew J. Seier, Kathryn P. Haley, Ryan S. Doster, Ana E. Farfán-García, and Oscar G. Gómez-Duarte
The SARS-CoV-2 differential genomic adaptation in response to varying UVindex reveals potential genomic resources for better COVID-19 diagnosis and prevention, Naveed Iqbal, Muhammad Rafiq, Masooma Ali, Sanaullah Tareen, Maqsood Ahmad, Faheem Nawaz, Sumair Khan, Rida Riaz, Ting Yang, and Ambrin Fatima
Animal modelling of alzheimer’s disease and novel drug intervention to prevent memory loss, Shabina Jabeen