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St. Joseph’s Regional Medical Center Offers Unique Expertise Required To Evaluate & Treat Rare Genetic Disorders

St. Joseph’s Healthcare System has announced the expansion of its genetic programs and the opening of its advanced Neurogenetics and Lysosomal Storage Disease Center. Devoted to leading edge treatment and research providing comprehensive and compassionate care for patients – children and adults – affected by rare genetic diseases and disorders, services are currently available at St. Joseph’s Children’s Hospital and St. Joseph’s Regional Medical Center in Paterson, NJ.


“Due to the rapid expansion of molecular genetics into clinical medicine, there is a growing need for evaluation of pediatric and adult patients with inherited and neurodegenerative disorders,” stated Punita Gupta, MD, a Board-certified clinical geneticist, Chief of the Genetics Division at St. Joseph’s Children’s Hospital and Co-Director of the Lysosomal Storage Disease Center at St. Joseph’s Children’s Hospital/St. Joseph’s Regional Medical Center. “The ever-expanding list of diagnostic possibilities and available tests can seem overwhelming to patients in need of assessment – that’s where the multidisciplinary team at St. Joseph’s steps in and leads the way,” she added.

An expert in the care of patients with genetic rare disorders, Dr. Gupta also provides clinical and leadership expertise as the Director of The Alfiero and Lucia Palestroni Birth Defects Center at St. Joseph’s Children’s Hospital, as well as overseeing several multispecialty centers at St. Joseph’s, including the Prader-Willi Center, The Neurofibromatosis Diagnostic & Treatment Program, the Turner Syndrome Program and the Down Syndrome Program. Recognized as a leader in the care of children with genetics disorders, the Genetics Division at St. Joseph’s Children’s Hospital provides a full range of advanced services, including pediatric evaluations, prenatal genetic counseling and cancer genetic counseling.

Dr. Gupta completed her residency at the University of Illinois in Chicago, her genetics fellowship at Columbia University and an additional neurogenetics fellowship at NYU Langone Medical Center with special training in lysosomal storage diseases. She is experienced in enzyme replacement therapy and an active participant in clinical trials for lysosomal storage diseases.

The Neurogenetics and Lysosomal Storage Disease Center at St. Joseph’s provides diagnostic, evaluation, management and treatment services for patients with known or suspected neurogenetics disorders. This includes consultation and counseling for patients and their families, input to physicians regarding their patients with neurogenetics disorders, and coordination of appropriate testing and care management of neurogenetic diseases. Dr. Gupta works closely with Swati Sathe, MD, MS, Co-Director of the Lysosomal Storage Disease Center, who is the Chief of Neurology and the Director of the Neuroscience Institute at St. Joseph’s Regional Medical Center.

Patient referrals are appropriate for children and adults with Gaucher disease, Pompe disease, autism, neurological disorders, MPSI Type 1, MPSIII, IV and VI, Familial Alzheimer’s disease, congenital heart disease, skeletal dysplasia and a wide range of congenital anomalies.

To learn more visit www.StJosephsHealth.org.

Nationally recognized St. Joseph’s Healthcare System, sponsored by the Sisters of Charity of Saint Elizabeth since 1867, is a leading not-for-profit tertiary medical center and major academic institution located in Northern New Jersey. An integrated comprehensive healthcare organization, St. Joseph’s prides itself on providing sophisticated healthcare with a ‘patients first’ approach to service excellence. To learn more, visit www.StJosephsHealth.org or call 877.757.SJHS (7547).

Caption to accompany attached photo:

Recognized as a leader in the care of children with genetics disorders, the Genetics Division at St. Joseph’s Children’s Hospital provides a full range of advanced services including prenatal genetic counseling led here by Punita Gupta, MD, a Board-certified clinical geneticist, Chief of the Genetics Division at St. Joseph’s Children’s Hospital and Co-Director of the Lysosomal Storage Disease Center at St. Joseph’s Children’s Hospital/St. Joseph’s Regional Medical Center (center) and Loren Pugliesi, Genetic Counselor, Genetics Division at St. Joseph’s Children’s Hospital (right).

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