Volunteer Focus: Rajini Haraksingh, VP, Science 2.0

Upcoming Webinar for Qiagen Ingenuity
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Dr. Rajini Haraksingh, VP of Science 2.0 at Rare Genomics Institute (RG), also works as a postdoctoral fellow in Dr. Urban’s Lab at Stanford Medical School. At Rare Genomics Institute, she leads a team of approximately 12 scientists, students, and other volunteers to help rare disease patients with genomic analysis. Often, patients who undergo genomic analysis are lost trying to make sense of the information. Dr. Haraksingh’s team helps the family to look at the data using different platforms, connect with world experts, and even start research studies to understand the specific disease.

Dr. Haraksingh has gained experience from her many years of training. While in graduate school, she leveraged advances in genome sequencing and variant mapping technologies to acquire an enhanced understanding of the genetic variability in humans. Her study of the large amounts of normal genetic variations in the human genome piqued her interest in learning how many of these variations, in the form of copy number variants (CNVs), actually cause disease.

Dr. Haraksingh’s postdoctoral studies focus on the implications of CNVs on sensorineural traits. Her hypothesis, that hearing might be affected by CNVs is based on previous studies, wherein, taste and olfactory receptors are shown to be affected by CNVs.

As a CNV expert, aside from structural variation, Dr. Haraksingh also focuses on the functional significance of CNVs. “I try to understand the interplay between different levels of gene expression and gene regulation,” she says. “How does the entire set of genomic content work together to create a functioning cell, a functioning system, and ultimately a functioning being?”

When her work began to involve extremely large data sets that required in-depth evaluation, she came across Qiagen’s Ingenuity Variant Analysis. This tool made querying the large databases much more manageable for her. Since then, Dr. Haraksingh has been using this application for her postdoc studies to help unravel and identify the disease-causing variation in the human genome.

In an upcoming webinar for Qiagen, Dr. Haraksingh will be speaking about her outlook on the discovery of causal variants in sensorineural hereditary hearing loss and other rare conditions.

At the Rare Genomics Institute, Dr. Haraksingh’s team uses a variety of bioinformatics software, including Qiagen’s Ingenuity Variant Analysis, along with others donated to Rare Genomics from companies such as Cypher Genomics, Omicia, and Tute Genomics. The team helps interpret the sequenced data obtained from rare disease patients’ genomes or exomes. Follow this link to learn more on Dr. Haraksingh’s studies on a possible relationship between variations in the human genome and causes of diseases.