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Gene Discovery and Functional Genomics

The Agrawal Lab is rapidly looking to identify and determine the function of rare disease-causing genes to understanding of the genetic and molecular underpinnings.

Gene Discovery Pipeline

gene discovery in rare diseases pipeline
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HBS1L

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  1. ​Genome Sequencing for Diagnosing Rare Diseases

  2. HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells

  3. The solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutation

  4. WNT2B Deficiency Causes Enhanced Susceptibility to Colitis Due to Increased Inflammatory Cytokine Production

  5. High number of candidate gene variants are identified as disease‐causing in a period of 4 years​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​

 
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HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells

The Company of Biologists

July 2024

Authors:

Shiyu Luo, Bilal Alwattar, Qifei Li, Kiran Bora, Alexandra K. Blomfield, Jasmine Lin, Anne Fulton, Jing Chen, Pankaj B. Agrawal

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The Solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutation

Science Direct

July 2024

Authors: Shiyu Luo, Stuart Rollins, Klaus Schmitz-Abe, Amy Tam Qifei Li, Jiahai Shi, Jasmine Lin, Robin Wang, Pankaj B. Agrawal.

WNT2B.jpeg

WNT2B Deficiency Causes Enhanced Susceptibility to Colitis Due to Increased Inflammatory Cytokine Production

Science Direct

April 2024

Authors: Amy E. O’Connell, Sathuwarman Raveenthiraraj, Luiz Fernando Silva Oliveira, Comfort Adegboye, Venkata Siva Dasuri, Wanshu, Radhika S. Khetani, Akaljot Singh, Nambirajam Sundaram, Jasmine Lin, Prathima Nandivada, Lorena Rincón-Cruz, Jeffrey D. Goldsmith, Jay R. Thiagarajah, Diana L. Carlone, Jerrold R. Turner, Pankaj B. Agrawal, Michael Helmrath, David T. Breault

 

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