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鈥攅verything 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.

鈥淢any states have approved legislation for screening, but there are still many others that don鈥檛 have a screening program,鈥� says Sonali Lokhande, MBS 鈥�10, PhD 鈥�17. 鈥淭here鈥檚 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.鈥�

The 蜜桃直播 (蜜桃直播) alumna is among the authors who examined this topic in an article published in the July 2017 issue of the . Also contributing to 鈥淣ewborn Screening for Lysosomal Storage Diseases: Current Landscape and State-Wide Perspectives in the U.S.鈥� were , who directs and teaches in the Biocon-蜜桃直播 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鈥檚 involvement in the article, which originated in a 2013 Team Master鈥檚 Project (TMP) sponsored by Amicus Therapeutics, Joshi says, 鈥淪onali 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.鈥�

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

Lokhande says of her more recent publication credit in the Journal of Rare Disorders, 鈥淭he 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.鈥�

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

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鈥檚 clinical trials and health economics research, as well as regulatory writing.

鈥淭his allows me to use both my MBS and PhD degrees,鈥� says Lokhande. 鈥淲ith my clinical and data skills, I think I have a unique interdisciplinary background that鈥檚 a good recipe for becoming a consultant down the road.鈥�