HYBRID EVENT: You can participate in person at Boston, Massachusetts, USA or Virtually from your home or work.

2nd Edition of

International Ophthalmology Conference

October 19-21, 2023 | Boston, Massachusetts, USA

IOC 2023

Yasin Muhammad

Speaker at International Ophthalmology Conference 2023 - Yasin Muhammad
Department of Biotechnology and Genetic Engineering KUST., Pakistan
Title : Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families


Background: A series of inherited illnesses known as retinitis pigmentosa are clinically and genetically diverse and are characterized by a progressive loss of photoreceptor and pigment epithelial function. Retinitis pigmentosa is one of the most prevalent causes of vision impairment in all age groups, with a prevalence of between 1300 and 1500. The aims of the current study were to investigate the genetic basis of autosomal recessive retinitis pigmentosa (arRP) in two consanguineous/ endogamous Pakistani families.

Methodology: Whole exome sequencing (WES) was performed on genomic DNA samples of patients with arRP to identify disease causing mutations. Sanger sequencing was performed to confirm familial segregation of identified mutations, and potential pathogenicity was determined by predictions of the mutations’ functions.

Results: A novel homozygous frameshift mutation [NM_000440.2:c.1054delG, p. (Gln352Argfs*4); Chr5:g.149286886del (GRCh37)] in the PDE6A gene in an endogamous family and a novel homozygous splice site mutation[NM_033100.3:c.1168-1G>A, Chr10:g.85968484G>A (GRCh37)] in the CDHR1 gene in a consanguineous family were identified. The PDE6A variant p. (Gln352Argfs*4) was predicted to be deleterious or pathogenic, whilst the CDHR1 variant c.1168-1G>A was predicted to result in potential alteration of splicing.


Dr. Muhammad Yasin, Ph.D. Molecular Biologist. I am an enthusiastic, adaptive, focused, motivated and fast-learning PhD Doctor. In addition, I have great interest in genetic/genomic research of human diseases and after earning four-year BS degree as well M. Phil research degree in Biotechnology, I had developed a better understanding of genomic research. During this time, I gained knowledge and experience in molecular biology techniques and bioinformatics tools. My career goal is to pursue a role that allows me to gain, more genetics/genomics research skills and knowledge so that I may serve as molecular geneticist. During my Ph.D. I joined the research group of Prof. Valerio Carell Full Professor Department of Biomedical and Neuromotor Sciences, Bologna Italy. In future, I want to obtain a researcher position in healthcare systems or academic research institutions in Pakistan to make diagnosis based upon skills and knowledge of disease genetics. I have more than 12 research articles in well known reported journal such as BMC, Journal of Wound Care.