My goals in teaching are to nurture students with the basic concepts and learning skills in human genetics/epigenetics that facilitate learning and critical thinking. The main component of teaching graduate students is to equip them with critical thinking, evaluation skills, opinion building, verbal and writing skills. To achieve my goals, I adopt interactive teaching, in which students are involved in reading textbooks, research and review articles, and preparing questions from the daily reading, along with active class discussion, paper writing, class presentation, and hands-on experience in the Human Genetics Lab. My teaching activities include the primary responsibility of three courses per year to the graduate students in the Child Language Doctoral program. Courses include 1) Concepts in Human Molecular Genetics; 2) Principles for the Study of Genetic Disorders and 3) Epigenetics of Behavioral and Developmental Disorders. In our current technologically-focused world, we are seeing an immense growth of research, understanding, awareness, and application of the fields of Human Genetics, Genomics, and Epigenetics. I encourage students to think, evaluate, criticize, question, and discuss ideas during the class to be well informed about developments in human genetics and epigenetics.
Advanced reading is the primary and integral part of my classroom teaching. I expect my students to complete advanced reading from textbooks, research articles, review articles, and online resources like Google and YouTube. I ask students to send me at least two questions from reading in each class. I sometimes use material from peer-reviewed articles to explain the concept. As an example, students read a scientific paper published in Science that described how investigators found a DNA mutation in the MYO15 gene in hearing-impaired families, leading to a new understanding of the role of the product of this gene in hearing. We discussed the methodologies and the workflow that authors used in this study in a class of Principles for the Study of Genetic Disorders. We used figures from the paper and talked about their findings in the context of study design and methodologies used in their study. Such examples in my class enabled students to better understand the techniques they learned in the classroom and to develop an understanding of how science is conducted at the highest levels. I encourage students to find the latest research developments on the topics we are learning in class and to start discussions on these in class.
I assign students to write three papers in each course. I allot the paper topics in the class or allow students to choose a topic, which I then approve. The paper topics are designed to develop their abilities to do research on the topic and to strengthen their understanding of important concepts in the area. I encourage students to take advantage of the writing center on campus. Presentation skills are an important component of graduate education. A 30-minute class presentation is mandatory for students in my class. For this, I provide students an opportunity to review research articles on the presentation topic and demonstrate research methodologies and results.
The focus of my research program is to investigate the genetic mechanisms involved in the causation of language disorders. The genetic pathways involved in language disorders are not well understood. Understanding these pathways will provide important new insights that will be necessary for improved diagnosis and treatment of these common disorders. The goals of my research program are to elucidate such genetic mechanisms through the study of well-characterized families with Specific Language Impairments (SLI). For this purpose, I have collaborated with Dr. Mabel Rice at the University of Kansas, a leading developer of measures to characterize the SLI phenotype, who has collected well over 300 SLI families. I established collaborations with geneticists and speech therapists to collect SLI families in Pakistan as well.
There are mainly three ongoing research projects in my laboratory. In the first project, we have done whole-exome sequencing on multiple members from SLI families. Whole exome sequencing was chosen because it can interrogate all the protein-coding genes in the genome at single-nucleotide resolution, and potentially lead directly to causative genetic variants. My lab is involved in the bioinformatics analyses on the sequencing data as well as in the association of rare variants using SLI probands and behaviorally measured controls.
The second project in my lab is to map gene loci using extended families with SLI. We ascertained such families with their behavioral measures and performed whole-genome Single Nucleotide Polymorphism (SNP) genotyping. We identified promising genetic loci in these families, which are reported in the peer-reviewed scientific journals and will be followed up through next-generation sequencing to investigate rare DNA variants in the candidate genes for SLI. This project is underway with the NIH funding, 4/10/2020 to 3/31/2023 (5 R21 DC017830-02).
The third project in my lab is to identify rare DNA variations co-segregate with SLI in consanguineous families using exome sequencing. We performed sequencing in SLI families using the genomic core facility at KU and the bioinformatic analysis is underway in collaboration with Dr. Zhong.
Service to the Department
I served on a departmental committee to design the departmental webpage, an important way of displaying information about the department and its mission to the state-wide, national, and international communities. It is also an efficient and widely used way for peers, reviewers, and students to gather information about the program, the faculty, and the University. Starting in 2021, I will serve on the graduate admissions committee to assist in the evaluation and recruitment of potential Ph.D. candidates in our program. I served on the Master/Ph.D. thesis committees in my department and in the Department of Anthropology. My role in these committees is to help students in their proposed research topics in human genetics. During the candidate visit in the faculty hiring process at the Department of Pharmacology and Toxicology in 2017, I met with the candidate.
Service to the University
The Faculty Senate Executive Committee nominated me as a member to serve on the University Senate Libraries Committee for a 3-year term in July of 2018. I served on a scholarly publication & open access (SPOA) task force (Fall 2019-Spring 2020) and provided our recommendations. I currently serve as a faculty advisor for the student organization Friends of Pakistan at KU. Friends of Pakistan organize cultural events and displays informational booths at the University to help increase wider understanding of the Pakistani community and culture at KU. We started a new Council, International Faculty Staff Council (IFSC) at KU in 2020 and I am among the founding members of this Council. This Council provides a platform to our International peers at KU for advocacy and social activities.
I am a member of the American Society of Human Genetics and the European Society of Human Genetics since 2016. Both societies independently organize an international essay contest for the high school students on DNA Day, held each year on the anniversary of the publication of the structure of DNA by James Watson and Francis Crick. I served as a judge for both societies in 2016 and 2017 to select the best essays. I reviewed articles in peer-reviewed scientific journals in the field of genetics and molecular biology. I serve as an external reviewer/examiner for Ph.D and master theses at several Universities in Pakistan.