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Journal Article Raises Awareness of Newborn Screening

Journal of Rare Disorders

Lysosomal storage disorders are rare, but their potential impact is significant. These inherited metabolic disorders are caused by enzyme deficiencies, and can affect many parts of the human body—everything from skin and bones to the brain, heart, and central nervous system. Yet, in the United States, newborns may or may not be screened for these disorders, depending on his or her state of birth.

“Many states have approved legislation for screening, but there are still many others that don’t have a screening program,” says Sonali Lokhande, MBS ’10, PhD ’17. “There’s a need for newborn screening programs to include lysosomal storage disorders in their panels because the clinical presentation of these diseases is often unpredictable, varying from a few months to several years after birth.”

The Keck Graduate Institute (KGI) alumna is among the authors who examined this topic in an article published in the July 2017 issue of the Journal of Rare Disorders. Also contributing to “Newborn Screening for Lysosomal Storage Diseases: Current Landscape and State-Wide Perspectives in the U.S.” were Meghana Joshi, who directs and teaches in the Biocon-KGI Certificate Programs in Biosciences and Bioscience Management, and two executives at Amicus Therapeutics, Senior Vice President for Program Management and Portfolio Planning Jeffrey Castelli and Senior Patient Advocate Jayne Gershkowitz.

Speaking about Lokhande’s involvement in the article, which originated in a 2013 Team Master’s Project (TMP) sponsored by Amicus Therapeutics, Joshi says, “Sonali is very good at data analysis and did a lot of work on the tables and figures. She also brought experience working in the rare disease space.”

The recipient of a medical degree in India before she came to KGI, Lokhande interned in regulatory affairs at the Food and Drug Administration (FDA) Office of Orphan Products Development and worked at KGI’s Center for Rare Disease Therapies. During her doctoral studies on systems biology, she also published in another peer-reviewed journal, co-authoring the article “A Link Between Chromatin Condensation Mechanisms and Huntington’s Disease: Connecting the Dots” in Molecular BioSystems.

Lokhande says of her more recent publication credit in the Journal of Rare Disorders, “The article creates awareness of the need to screen for the disorders and also identifies areas important to all stakeholders, including patient advocacy organizations. It took a bit of time to get the article out, but it was a rewarding process.”

“It was very interesting to see how patient groups lobby companies for funding or talk to states or the FDA to get a therapy approved,” Joshi says. “It’s helpful to create awareness among families that there’s a way to join these groups and make a difference for a family member.”

Writing the article also helped Lokhande affirm her professional path after her doctorate. She sees herself working long-term in the areas of rare disorders data analysis, regulatory matters, and medical writing related to regulatory affairs. That work has already begun: since completing her PhD, Lokhande has joined Adnab Research, where she is involved in analyzing results from the company’s clinical trials and health economics research, as well as regulatory writing.

“This allows me to use both my MBS and PhD degrees,” says Lokhande. “With my clinical and data skills, I think I have a unique interdisciplinary background that’s a good recipe for becoming a consultant down the road.”