Dr. Keith Flaherty is a senior advisor to the company and chair of our Scientific Advisory Board. Dr. Flaherty is Director of Clinical Research at the Massachusetts General Hospital Cancer Center, and Professor of Medicine at Harvard Medical School....see more

As described in the more than 300 peer reviewed primary research reports he has authored or co-authored, Dr. Flaherty and colleagues made several seminal observations that have defined the treatment of melanoma when they established the efficacy of BRAF, MEK and combined BRAF/MEK inhibition in patients with metastatic melanoma in a series of New England Journal of Medicine articles for which Dr. Flaherty was the first or senior author. Dr. Flaherty also has been a leader in assessing and identifying mechanisms of de novo and acquired resistance to BRAF inhibitor therapy and clinically evaluating next generation inhibitors, work that has had implications for resistance to targeted therapy regimens used to treat other malignant diseases. He is the principal investigator of the NCI MATCH trial, the first NCI-sponsored trial assigning patients to targeted therapy independent of tumor type on the basis of DNA sequencing detection of oncogenes. He serves ECOG as chair of the Developmental Therapeutics Committee and in 2013 was appointed as ECOG Deputy Chair for Biomarker Science. Dr. Flaherty joined the NCI Board of Scientific Advisors in 2018 and AACR Board of Directors in 2019. He serves as editor-in-chief of Clinical Cancer Research.

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Dr. Huertas serves as the Chief Medical Officer for Inozyme Pharma. He brings more than 30 years of experience in the pharmaceutical industry and has extensive experience in research and development and medical and regulatory affairs, especially regarding rare disorders and enzyme replacement therapies....see more

He recently was the Chief Medical Officer at Sentien Pharmaceuticals and before that held the same position at Eloxx Pharmaceuticals where he developed designer aminoglycosides as translational read-through agents for genetic diseases caused by nonsense mutations. In addition, Dr. Huertas has worked for leading orphan drug developers such as Genzyme, Shire and Amicus and has experience working with small molecules, biologics and cellular therapies across multiple therapeutic categories, including cardiology, nephrology, hematology and ophthalmology.

Dr. Huertas trained at Massachusetts General Hospital and holds several advanced degrees, including an MD from Harvard Medical School and the Massachusetts Institute of Technology (HST Program), a PhD in cell and developmental biology from Harvard University, an MS in biochemistry from Stanford University, and an MS in management from the Sloan School of Management at the Massachusetts Institute of Technology.

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Dr. South is Research Vice Chair of the Department of Dermatology and Cutaneous Biology, and the Associate Director of The Joan and Joel Rosenbloom Research Center for Fibrotic Diseases at Thomas Jefferson University. A major focus of his laboratory is the study of a group of skin blistering diseases called epidermolysis bullosa (EB). EB is caused by mutations in genes that code for structural proteins of the skin and other barrier tissues, and certain mutation combinations can lead to devastating disease resulting from skin and mucosa fragility. Dr. South has developed laboratory based functional assays to determine the therapeutic efficacy of emerging technologies for the treatment of EB, including so called “read-through” drugs, and a number of pre-clinical studies from Dr. South’s laboratory have led to clinical trials in both Europe and the US.

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A major goal of my lab is to develop therapies to treat genetic diseases caused by premature termination codons (PTCs). We are using a combination of genomics, genetics, biochemistry, and cell biology to better understand the molecular details of translation termination to develop viable therapeutic strategies aimed at suppressing PTCs and restoring expression of full-length, functional protein....see more

One disease currently under active investigation is cystic fibrosis (CF). Roughly 10% of CF patients carry a PTC in the CFTR gene. We have identified compounds that suppress termination at PTCs in the CFTR gene by promoting the insertion of an amino acid at the site of the PTC. We are examining these so-called “readthrough” agents in various experimental models, including cultured CF cells, transgenic and knock-in CF mice, and CF patients. We have also identified the amino acids that become inserted during the suppression of PTCs in mammalian cells and are using that information to develop strategies to enhance the CFTR activity restored by PTC suppression using CFTR correctors and potentiators.


Other diseases we are using to study the utility of this approach include neurofibromatosis, FOXG1 deficiency, Rett syndrome, and Hurler syndrome. Ultimately, successful development of this therapeutic approach will allow us to treat a broad range of human genetic diseases caused by PTCs.

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