Rare, Orphan and Genetic Diseases
Adriana Montano, Ph.D.
Adriana Montano is an expert in the study and development of therapies for mucopolysaccharidosis (MPS), a set of rare diseases affecting bone, musculoskeletal and organ development. Her discoveries include potential therapies for MPS IVA (licensed to Archmont Biopharma, founded by Adriana Montano). Adriana has also collaborated with multiple industry partners to study other lysosomal storage and bone disorders.
Keywords:Marquio Disease, Enzyme Replacement and Gene Therapy
Fran Sverdrup, Ph.D.
Fran Sverdrup performs target identification, validation, drug screening, and preclinical evaluation of drug candidates for genetic and infectious diseases. His major work is on facioscapulohumeral muscular dystrophy (FSHD), one of the most common forms of muscular dystrophy for which there is no treatment. His work to identify druggable pathways that modulate expression of the DUX4 gene responsible for FSHD and developing potential therapies is sponsored by a major pharmaceutical company.
Keywords:Drug Screening, Malaria, African Sleeping Sickness, FSHD
Rajeev Aurora studies mechanisms that lead to chronic inflammation in the context of osteoimmunology, osteoarthritis, and bone degeneration. His lab uses mouse models and human studies, employing computational and laboratory tools to understand the genetic, epigenetic, and environmental factors that lead from acute inflammation to chronic activation of the immune system. He holds multiple patents on treatments for bone degeneration diseases.
Keywords:Osteoporosis, Acute and Chronic Inflammation, Epigenetics
Andy Nguyen studies how deficiencies in progranulin, a protein linked to frontotemporal dementia (FTD), causes neurodegeneration. He is actively pursuing development of strategies to increase progranulin levels as potential therapies for FTD. His studies include determining progranulin’s structure and function using a variety of molecular and cellular approaches.
Keywords: frontotemporal dementia (FTD), anti-sense oligonucleotides, neurodegeneration
Sergey Korolev Ph.D.
Sergey Korolev uses structural, biochemical, and molecular biology methods to study the structure and function of DNA recombination mediator proteins. Human RMPs include tumor suppressors BRCA1/2 and PALB2, while pathogen RMPs mediate drug resistance. His lab also studies the calcium-independent phospholipase iPLA2B, a protein implicated in obesity, cancer, infantile neuroaxonal dystrophy, and Parkinsons.
Keywords: Chronic Pain, Parkinson’s, Tumor Suppression