Hafiz Muhammad Jafar Hussain

I'm a Researcher

About Me

  • I hold a Ph.D. in genetics (June 2019) and have extensive experience in human genetics research.
  • I began my postdoctoral work at Ruijin Hospital, Shanghai Jiao Tong University, and currently serve as a postdoctoral associate in the Department of Molecular and Human Genetics at Baylor College of Medicine, Houston, TX.
  • My research focuses on the genetics of inherited retinal diseases (IRDs).
  • I have expertise in whole-genome and whole-exome data analysis, as well as phenotyping mouse models of human diseases.
  • At Baylor, I have identified two novel IRD-related genes and helped to solve the clinically unsolved cases.
  • I am also working as a bicurator for ClinGen X-linked Inherited Retinal Disease Variant Curation Expert Panel and more than 70 variants were approved by panel for my curation.
  • My research has also contributed to understanding genetic links to infertility and kidney disorders, as reflected in my publications.
  • Additionally, I was awarded funding from the Knights Templar Eye Foundation for my work on a novel gene causing retinal disease in children.

Summary

Hussain, Hafiz Muhammad Jafar

Molecular and Human Genetics.

  • Baylor College of Medicine
  • Houston, TX 77030
  • 651-706-7289
  • hafizaasi19@gmail.com
    u246699@bcm.edu

Education

Ph.D. in Cell Biology/Human Molecular Genetics/Reproductive Biology

2015 - 2019

University of Science and Technology of China, Hefei, China

Identification of genetic mutations causing human male infertility by disrupting meiosis and their functional analysis by using CRISPR/Cas9 technology in mouse models

Master in Biotechnology

2013 - 2015

Quaid e Azam University, Islamabad, Pakistan

Bachelor of Science (BS) in Microbiology and Molecular Genetics

2009 - 2013

University of the Punjab, Lahore, Pakistan

Research Experience

Postdoctoral Research Associate

2022 - Present

Under supervision of Dr. and Kim to find variants, novel candidate genes in inherited retinal dystrophies (IRD) at Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Bio-curator

2022 - Present

X-linked Inherited Retinal Disease Variant Curation Expert Panel, Virtual.

Postdoctoral Researcher Fellow

2019 - 2022

Ruijin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China, 2019-2022.
Worked under Xie Jingyuan supervision on genetic analysis of FSGS and Nail Patella Syndrome patient.

Funding

Knights Templar Eye Foundation

2024 - 2025

Career-Starter Research Grant of 90k USD.

Academic Services

Honors / Awards

At high school, I got third position at tehsil level with A+ grade.

At college I received merit scholarship.

In bachelor, I received laptop on merit basis by Government of Punjab, Pakistan.

In master, I received merit scholarship in every semester by university and also received laptop by Federal Government of Pakistan.

For PhD I was selected by Chinese Government Scholarship Council for four-year duration from 2015 to 2019. CSC Number was 2015GXZQ78.

Professional Memberships

Publications

Peer-Reviewed Articles

First Author

1.

Hussain HMJ, Wang M, Huang A, Schmidt R, Qian X, Yang P, Marra M, Li Y, Pennesi ME, Chen R. Novel pathogenic mutations identified from whole-genome sequencing of unsolved patients affected with inherited retinal diseases. Genes. 2023.

2.

Hussain HMJ, Cai Y, Weng O, Tong J, Aftab A, Jin Y, Jian Liu J, Shuwen Y, Fang Z, Du W, Xiaoxia P, Xie J. Mutation in XPO5 Causes Adult-Onset Autosomal Dominant Familial Focal Segmental Glomerulosclerosis. Human Genomics. https://humgenomics.biomedcentral.com/articles/10.1186/s40246-022-00430-y.

3.

Hussain HMJ, Murtaza G, Jiang X, Khan R, Khan M, Kakakhel MBS, Khan T, Wahab F, Zhang H,Zhang Y, Khan MB, Ahmed P, Hui M, Xu Z. Whole exome sequencing revealed a novel nonsense variant in GNRHR gene causing normosmic hypogonadotropic hypogonadism in a Pakistani family. Hormone research in paediatrics. 2019. https://www.ncbi.nlm.nih.gov/pubmed/30947225.

4.

Hussain HMJ, Khan R, Aftab A, Muneer I, Wahab F, Jiang X. In silico analysis of disease causing mutations in secreted LY6/urokinase type plasminogen activator receptor-related protein-1 gene. Annals of Clinical & Laboratory Science. https://pubmed.ncbi.nlm.nih.gov/31882421/.

Co-Author

1.

M Yang, Hussain HMJ, M Khan, Z Muhammad, J Zhou, A Ma, X Huang, J Ye, M Chen, A Zhi, T Liu, R Khan, A Ali, W Shah, A Zeb, N Ahmad, H Zhang, B Xu, H Ma , Q Shi , B Shi. Deficiency in a special dynein DNAH12 causes male infertility by impairing DNAH1 and DNALI1 recruitment in humans and mice. Elife. 2024. https://elifesciences.org/reviewed-preprints/100350. 2024

2.

Khan R, Aftab A, Tabassum S, Hussain HMJ, Hameed A, Mahmood H, Munir F, Bukhari I. Identification and characterization of the CDKN2A variants in breast cancer patients. Genes & Genetic Systems. 2019. https://www.ncbi.nlm.nih.gov/pubmed/31231091.

3.

Wei X, Fangtao Z, Hussain HMJ, Khan R. A "turn-off" SERS Aptasensor Based DNAzyme-Gold Nanorod for Ultrasensitive Lead Ion Detection. Analytica Chimica Acta X. 2019. https://www.sciencedirect.com/science/article/pii/S2590134619300167.

4.

Yubin X, Khan R, Wahab F, Hussain HMJ, Ali A, Hui M, Hanwei J, Jianze X, Zaman Q, Khan M, Jiang X, Shi Q. The Testis-specifically expressed Dpep3 is not essential for male infertility in mice. Gene. 2019. https://www.sciencedirect.com/science/article/pii/S037811191930575X.

5.

Khan MR, Bukhari I, Khan R, Hussain HMJ, Wu M, Thorne RF, Jinming L, Liu G. TP53LNC-DB, the database of LncRNAs in the p53 signaling network. Database-The Journal of Biological Databases and Curation. 2019. https://www.ncbi.nlm.nih.gov/pubmed/30624647.

6.

Zhu H, Khan M, Xu JZ, Khan T, Hui M, Khan R, Hussain HMJ, Jiang X, Shi Q. The deubiquitinating gene Usp29 is dispensable for fertility in male mice. Science China Life Sciences. 2019. https://www.ncbi.nlm.nih.gov/pubmed/30919279.

7.

Manzoor H, Brüggemann N, Hussain HMJ, Bäumer T, Hinrichs F, Wajid M, Münchau A, Naz S, Lohmann K. Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders. Parkinsonism and Related Disorders. 2018. https://www.ncbi.nlm.nih.gov/pubmed/29449188.

8.

Khan M, Jabeen N, Khan T, Hussain HMJ, Ali A, Khan R, Jiang L, Li T, Tao Q, Zhang X, Yin H, Yu C, Jiang X, Shi Q. The evolutionarily conserved genes: Tex37, Ccdc73, Prss55 and Nxt2 are dispensable for fertility in mice. Scientific Reports. 2018. https://www.ncbi.nlm.nih.gov/pubmed/29563520.

9.

Khan T, Khan M, Yousaf A, Khan S, Naeem M, Shah A, Murtaza G, Ali A, Jabeen N, Hussain HMJ, Ma H, Zhang Y, Zubair M, Jiang X, Zhang H. Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family. Journal of Human Genetics. 2018. https://www.ncbi.nlm.nih.gov/pubmed/30033443.

10.

Aftab A, Shahzad S, Hussain HMJ, Khan R, Irum S, Tabassum S. CDKN2A/P16INK4A variants association with breast cancer and their in-silico analysis. Breast Cancer. 2018. https://www.ncbi.nlm.nih.gov/pubmed/30039340.

11.

Muneer I, Ul Qamar MT, Tusleem K, Abdul Rauf S, Hussain HMJ, Siddiqi AR. Discovery of selective inhibitors for cyclic AMP response element-binding protein: a combined ligand and structure-based resources pipeline. Anti-cancer Drugs. 2018. https://www.ncbi.nlm.nih.gov/pubmed/30499778.

12.

Khan R, Tang J, Hussain HMJ, Muhammad N, Sun Y, Wang C, Çaglayan ES, Khan MR, Bukhari I and Zhu J. Association of MTHFR C677T with Idiopathic Recurrent Pregnancy Loss in Anhui Province of China. Int J Hum Genet. http://krepublishers.com/02-Journals/IJHG/IJHG-19-0-000-19-Web/IJHG-19-4-000-19-Abst-PDF/IJHG-19-04-158-19-728-Khan-R/IJHG-19-04-158-19-728-Khan-R-Tx[1].pdf.

13.

Zhang B, Hui M, Khan T, Ao M, Hussain HMJ, Khan R……. Shi Q. A DNAH17 missense variant causes flagella destabilization and asthenozoospermia. Journal of Experimental Medicine. 2019. https://www.ncbi.nlm.nih.gov/pubmed/31658987.

14.

Jun T, Jin Y, Weng Q, Yu S, Hussain HMJ, Hong R, Xu J, Zhang W, Xiao L, Wang W, Xie J, Nan C. Glomerular Transcriptome Profiles in Focal Glomerulosclerosis: New Genes and Pathways for Steroid Resistance. American Journal of Nephrology. https://www.ncbi.nlm.nih.gov/pubmed/32348995.

15.

Mingxin Yang, Qinjie W, Xiaoxia P, Hussain HMJ, Shuwen Y, Jing X, Xialian Y, Yunzi L, Yuanmeng J, Chunli Z, XiaoL, Hong R, Chen N, Jingyuan X. Clinical and Genetic Analysis of LPG patients caused by APOE mutations. Molecular Genetics & Genomic Medicine. https://onlinelibrary.wiley.com/doi/full/10.1002/mgg3.1281.

16.

Wei X, Fangtao Z, Khan R, Hussain HMJ. A highly sensitive DNAzyme-based SERS biosensor for quantitative detection of lead ions in Human Serum. Analytical & Bioanalytical Chemistry. https://link.springer.com/article/10.1007/s00216-020-02709-2.

17.

Wei X, Aiwu Zhao, Fangtao Z, Khan R, Hussain HMJ, Chang J. Au@Ag core-shell nanoparticles for microRNA-21 determination based on duplex-specific nuclease signal amplification and surface-enhanced Raman scattering. Microchimica Acta. https://link.springer.com/article/10.1007/s00604-020-04330-7.

18.

Qazi TJ, Wu Q, Aierken A, Lu D, Bukhari I, Hussain HMJ, Yang J, Mir A. Whole exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome. BMC Medical Genetics. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446199/.

19.

Jiao Y, Fan S, Jabeen N, Zhang H, Khan R, Murtaza G, Jiang H, Ali A, Li Y, Bao J, Zhang B, Xu J, Xu B, Hussain HMJ, Ma H, Jiang X, Zhang Y, and Shi Q. A TOP6BL mutation abolishes meiotic DNA double-strand break formation and causes human infertility. Science Bulletin. https://www.sciencedirect.com/science/article/abs/pii/S2095927320305624?via%3Dihub.

20.

Mei X, Zhou Y, Amjad M, Yang W，Zhu R, Asif M, Hussain HMJ, Yang T, Iqbal F, and Hu H. Next-generation sequencing identifies pathogenic variants in HGF, POU3F4, TECTA and MYO7A in consanguineous Pakistani deaf families. Neural Plasticity. https://www.hindawi.com/journals/np/2021/5528434/.

21.

Zhengying F, Chenni G, Yinhong J, Lin L, Haijin Y, Hussain HMJ, Zijin C, …, Jialin L, Yufang B, Nan C, Weiguo H, Huiming W, Jun L, Jingyuan X. A Validation Study of UCSD-Mayo Risk Score in Predicting Hospital- acquired Acute Kidney Injury in COVID-19 Patients. Renal Failure. https://www.tandfonline.com/doi/full/10.1080/0886022X.2021.1948429.

22.

Chen Z, Gao C , Yu H, Lu L ……… Hussain HMJ, Xie J. Hypophosphatemia is an independent risk factor for AKI among hospitalized patients with COVID-19 infection. Renal Failure. https://www.tandfonline.com/doi/epub/10.1080/0886022X.2021.1979039?needAccess=true.

23.

Ouyang Y, Zhao Z, Li G, Luo H, Hussain HMJ, Jingyuan X. A Validation Study Comparing Risk Prediction Models of IgA Nephropathy. Frontiers in Immunology. https://www.frontiersin.org/articles/10.3389/fimmu.2021.753901/full.

24.

Manzoor H, Brüggemann N, Hussain HMJ, Bäumer T, Hinrichs F, Wajid M, Münchau A, Katja Lohmann K, Naz S. A Novel ECEL1 Variant Associated with a Congenital Contracture Disorder. Pakistan Journal of Zoology. http://researcherslinks.com/current-issues/A-Novel-ECEL-Variant-Associated-with-Congenital-Contracture-Disorder/20/1/5537/html.

25.

Tan SC, Low TY, Hussain HMJ, Sharzehan MAK, Sito H, Kord-Varkaneh H, Islam MA. Association between XRCC3 p.Thr241Met polymorphism and risk of glioma: A systematic review and meta-analysis. Plos One. https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0276313.

26.

Luo C, Ouyang Y, Shi S, Li G,Zhao Z, Luo H, Xu F, Shao L, Chen Z, Yu S, Jin Y, Xu J, Du W, Fang Z , Hussain HMJ, Zhang W, Wang W, Cui Y, Zhang H, Chen N, Yu Z, Xie J. Particulate matter of air pollution may increase risk of kidney failure in IgA nephropathy. Kidney International. https://www.kidney-international.org/action/showPdf?pii=S0085-2538%2822%2900696-2.

27.

Manzoor H, Zahid H, Christopher A Emerling CA, Kumar KR, Hussain HMJ, Seo GH, Wajid M, Naz S. A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans. European Journal of Human Genetics. https://www.nature.com/articles/s41431-023-01319-7.

28.

Tong J, Zheng Q, Gu X, Weng Q, Yu S, Fang Z, Hussain HMJ, Xu J, Ren H, Chen N, and Xie J. COL4A3 Mutation induced Podocyte Apoptosis by Dysregulation of NADPH Oxidase 4 3 and MMP-2. Kidney International Reports. https://www.kireports.org/article/S2468-0249(23)01349-9/fulltext.

29.

Haiting J, Lichun Z, Hussain HMJ, Ayesha A, Huiqian Y, and Min X. Novel cis compound heterozygous variants in MYO6 causes early onset of non-syndromic hearing loss in a Chinese family. Frontiers in Genetics, 2024. https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1275633/full.

30.

Daniel CB, Meng W, Hussain HMJ, David ER, Molly M, Mark EP, Paul Y, Lesley E, Radwan SA, Jason C, Fernanda BOP, Anna M, Michael BG, Robert KK, Irma L, Ruifang S, Gang Z, Yumei L, Rui C. Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases. Human Molecular Genetics, 2024.

Corresponding Author

1.

Khan R, Naseem T, Malik SS, Hussain HMJ#, Hussain HMA. Possible potential outcomes from COVID-19 complications on testes: Lesson from SARS infection. JCPSP. https://pubmed.ncbi.nlm.nih.gov/33115584/.

2.

Khan MI, Latif M, Saif M, Ahmad H, Khan A, Naseer MI, Hussain HMJ#, Musharraf Jelani. Whole exome sequencing identified a novel missense alteration in CC2D2A gene causing Joubert syndrome 9 in a Pakhtun family. Journal of Gene Medicine. https://pubmed.ncbi.nlm.nih.gov/32989887/.

3.

Aftab A, Khan R, Shah W, Azhar M, Hussain HMJ#, Waqas A. Computational Analysis of Cyclin D1 gene SNPs and Association with Breast Cancer. Bioscience Reports. https://pubmed.ncbi.nlm.nih.gov/33438725/.

Conference Abstracts

1.

Hussain HMJ, A Katiyar, M Wang, J Lee, Y Li, P Yang, M Marra, M Pennesi, R Clark, F Porto, R Koenekoop, I. Lopez, R Sui, M Gorin, R Chen Identification & validation of intronic splice mutations in a cohort of inherited retinal diseases. Abstract Accepted for ASHG, 2024.

2.

K Worley, M Mero, WC Hankey, K Lee, L. S Sullivan, R Ayyagari, M Benson, V Chong, K Goetz, L Haer-Wigman, R Hufnagel, S Hull, Hussain HMJ, K Kämpjärvi, J Sallum, PA Sieving, M Wang, G Wang, C Zeitz, RA Lewis, R Chen, on behalf of the ClinGen X-linked Inherited Retinal Disease Variant Curation Expert Panel. Challenges and lessons learned in developing ClinGen initial modified ACMG/AMP criteria for variant curation in X-linked inherited retinal disease genes RPGR, RS1, CHM and RP2. Abstract Accepted for ASHG, 2024.

3.

Mero, M., Hankey, W., Lee, K., Sullivan, L. S., Ayyagari R., Benson, M. D., Chong V., Goetz K., Haer-Wigman, L., Hufnagel, R., Hussain HMJ., Kämpjärvi K., Koenekoop R., Sallum, J., Sieving, P. A., Wang, M., Wang G., Zeitz, C., Lewis, R. A., Chen, R., and Worley, K. C., on behalf of the ClinGen Xlinked Inherited Retinal Disease Variant Curation Expert Panel. Updates from the ClinGen X-linked Inherited Retinal Disease Variant Curation Expert Panel: Challenges and Lessons Learned in Developing Initial modified ACMG criteria for RPGR, RS1 and CHM. Curating the Clinical Genome, Baltimore, MD, 2024.

4.

DE Rauch, M Wang, Hussain HMJ, DCr Brock, Y Li, M Marra, M Pennesi, Paul Yang, Lesley Everett, Irma Lopez, Edward Ryan Collantes, Joanne Bolinao, Rui Chen. Using Machine Learning to Assess the Pathogenicity of Small In-frame Indels in Inherited Retinal Disease. ARVO, 2024.

5.

Kim Carlyle Worley, William Hankey, Lonneke Haer-Wigman, Wang, Hussain HMJ, Kristy Lee, Paul A Sieving, Lori S Sullivan, Christina Zeitz, Richard A Lewis, Rui Chen. ClinGen X-linked Inherited Retinal Disease Variant Curation Expert Panel (XLIRD VCEP): RPGR Curation Progress, and Initial modified ACMG criteria for RS1 and CHM. ARVO, 2024.

6.

Worley, KC, Hankey W, Mero M, Hussain HMJ, Lee K, Sullivan LS, Haer-Wigman L, Smith AR, Wang M, Faya N, Ayyagari R, Benson, M, Cheetham ME, De Baere E, Chong V, Goetz K, Hufnagel, R, Kampjarvi K, Koenekoop R, Sallum, J, Wang G, Sieving, PA, Zeitz, C, Lewis, RA Chen, R, and Worley, KC, on behalf of the ClinGen X-linked Inherited Retinal Disease Variant Curation Expert Panel. Initial modified ACMG criteria for RPGR variant curation from the ClinGen X-linked inherited retinal disease gene Variant Curation Expert Panel. ASHG, 2023.

7.

Hankey W, Mero M, Hussain HMJ, Lee K, Sullivan LS, Haer-Wigman L, Smith AR, Wang M, Faya N, Ayyagari R, Benson, M, Cheetham ME, De Baere E, Chong V, Goetz K, Hufnagel, R, Kampjarvi K, Koenekoop R, Sallum, J, Wang G, Sieving, PA, Zeitz, C, Lewis, RA Chen, R, and Worley, KC, on behalf of the ClinGen X-linked Inherited Retinal Disease Variant Curation Expert Panel. RPGR Variant Curation Using Adapted ACMG/AMP Guidelines. Abstract submitted to Curating the Clinical Genome, 2024.

8.

Worley, KC, Mero, M, Hankey, W, Hussain, HMJ, Lee, K, Sullivan, LS, Haer-Wigman, L, Wang, M, Sieving, P, Zeitz, C, Lewis, RA and Chen, R for the ClinGen X-linked Inherited Retinal Disease Variant Curation Expert Panel.Updates from the ClinGen X-linked inherited retinal disease gene Variant Curation Expert Panel: RPGR Curation Progress, and Initial modified ACMG criteria for RS1 and CM1. Abstract submitted to ARVO, 2024.

9.

Hussain HMJ and Shinwari ZK. Dual use of Biotechnoloy products. Poster presentation at Biosafety and Biosecurity workshop, Quaid I Azam University, Islamabad, Pakistan. 2014.

10.

Hussain HMJ and Xie J. Double mutation inheritance in patients with Focal segmental glomerulosclerosis and Alport syndrome. 18th Asian Pacific Congress of Nephrology 2020. Abstract number is 391.

11.

Hussain HMJ and Xie J. Double mutations inheritance in CKD. Oral presentation and got second position at 10th Oriental Congress of Nephrology 2020.

12.

Chen Zijin, Hussain HMJ and Xie J. Hypophosphatemia is an independent risk factor for AKI among hospitalized patients with COVID-19 infection. Poster presentation at 10th Oriental Congress of Nephrology 2020. Poster number P051.

13.

Hussain HMJ, Munir R, and Zaidi NZ. Targeting the mevalonate pathway for cancer therapy. Poster presentation at Bio-physicochemical basis for Techno-preneurship, University of the Punjab, Lahore, Pakistan. April 2013.

14.

Hussain HMJ, Munir R, and Zaidi NZ. Diagnostic and prognostic relevance of blood lipid profiles with cancer: An issue of ambiguity. Poster presentation at Bio-physicochemical basis for Techno-preneurship, University of the Punjab, Lahore, Pakistan. April 2013.

References

Rui Chen Ph.D.

Email: rui.chen@uci.edu

Professor at Gavin Herbert Eye Institute - Center for Translational Vision Research, Department of Ophthalmology, University of California Irvine School of Medicine, Irvine, CA 92697, USA.

Kim C. Worley, Ph.D.

Email: kworley@bcm.edu

Professor, Vice-Chair of Basic and Translational Research, Department of Molecular and Human Genetics Human Genome Sequencing Center, Chair of the BCM Faculty Senate, Baylor College of Medicine One Baylor Plaza, MS BCM225, Room ABBR-R717, Houston, TX 77030, phone: 713-798-8292.

Li Yumei, Ph.D.

Email: yumeil3@hs.uci.edu

Department of Ophthalmology, Center for Translational Vision Research, University of California, Irvine School of Medicine, CA, USA.

Jingyuan Xie M.D

Email: nephroxie@163.com

Department of Nephrology, Institute of Nephrology, Shanghai Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai, 200025 China.

Shi Qinghua Ph.D.

E-mail: qshi@ustc.edu.cn

Professor at Hefei National Laboratory for Physical Science at Microscale, School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, P. R. China, 230026.

Contact

Address

Houston, TX 77030

Call Me

651-706-7289

Email Me

hafizaasi19@gmail.com
u246699@bcm.edu

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