SUMMARY
Radhika Dhamija, M.B.B.S., is board certified in neurology and genetics and specializes in the care of children and adults with rare and undiagnosed diseases. She focuses on neurogenetics, which is the influence of genetics on the development and function of the nervous system. Dr. Dhamija serves as a medical educator within the Mayo Clinic Alix School of Medicine and Mayo Clinic's residency and fellowship programs.
She studies and reports new findings in rare genetic disorders and neurocutaneous disorders with focus on neurofibromatosis and schwannomatosis. Dr. Dhamija researches whole-exome and whole-genome sequencing in an attempt to discover new genetic diagnoses. She is an integral member of the Genomic Odyssey Board in the Center for Individualized Medicine at Mayo Clinic.
As a clinician involved in seeing and caring for people with rare disorders, Dr. Dhamija is involved in studying several rare neurogenetic disorders and expanding their clinical phenotypes. She serves as the co-director for the Neurofibromatosis Clinic at Mayo Clinic and has been involved with clinical drug trials for neurofibromatosis. She has cowritten several manuscripts and book chapters on neurocutaneous syndromes.
Dr. Dhamija's current research is focused on autosomal dominant leukodystrophy (ADLD). She serves as the clinician lead for the ADLD Clinical Care Center at Mayo Clinic, providing multidisciplinary care for this patient population. She led a Delphi study to develop consensus-based guidelines for care of people with ADLD and leads the ADLD Clinical Consortium along with the ADLD Center, a patient advocacy group.
Focus areas
- Neurogenetics. Dr. Dhamija focuses on neurogenetics and has written many publications describing new genotype-phenotype correlations, including a new syndrome called Hartsfield syndrome.
Human rare disease and disease gene discovery. As a clinician and scientist, Dr. Dhamija participates in collaborative projects that lead to understanding the genomic basis of rare diseases. She described the first case series of siblings affected by a rare syndrome called Hartsfield syndrome discovered using whole-exome sequencing. Hartsfield syndrome is an association of holoprosencephaly and ectrodactyly with or without a cleft lip and palate. Dr. Dhamija's publication added significantly to the limited literature that existed at the time on this rare condition. This report was the first familial case of Hartsfield syndrome described.
Dr. Dhamija has another publication documenting gonadal mosaicism as being responsible for familial recurrence of Hartsfield syndrome. Gonadal mosaicism in Hartsfield syndrome can be identified with next-generation sequencing. This work was presented at the annual meeting of the American College of Medical Genetics and Genomics as part of a symposium. Dr. Dhamija and her team wrote a review on this syndrome that was published in GeneReviews.
- Neurocutaneous disorders and neurogenetic disorders with focus on ADLD. Dr. Dhamija has expanded the phenotypic spectrum of several rare disorders. She brought clinicians and scientists together to further expand the ADLD phenotype, described pathogenesis, studied natural history and provided insights into therapeutics. She presented a retrospective review of adult ADLD at the American Academy of Neurology 2024 annual meeting.
Significance to patient care
Dr. Dhamija cares for people with rare genetic disorders and works in many multidisciplinary models. She works on clinical trials for rare disorders such as neurofibromatosis and develops new therapeutics for ultra-rare disorders.