Assistant Professor, Division of Genetics, Department of Pediatrics, CHAMCo-Director, New York Center for Rare Diseases

Helping to build an exciting new wine education platform

Director, Genetics of Blood and Immunity ClinicClinical Advisor, JHG DNA Diagnostics LabAtaxia Telangiectasia Clinical Center

- Genetic analyses of patients with suspected inborn errors of immunity (IEIs) for clinical diagnoses and candidate gene/variant discovery- Natural history studies of existing patient cohorts for elucidation of genotype-phenotype connections- IEI-focused multi-dimensional database-building

- Oversight of all DGM clinical residents/fellows and rotating trainees (30+ medical students, residents, fellows)- Organization of all DGM academic schedules, department conferences, didactic sessions, trainee orientations- Educational program building- Participation in research, implementation and analysis for Safety and QI Committees- Interfacing with Program and Clinical Leadership, other JHH departments and NIH

- Clinical experiences at Necker-Enfants Malades, Paris, FR; the Indian Health Service Hospital, Tuba City, AZ; and NIAID/NIH- Extensive inpatient and outpatient experience with the diagnosis and management of inborn errors of metabolism (IEMs) and various genetic syndromes including those of the epigenetic machinery- Expertise in the molecular diagnosis, functional assessment, and care of patients with potential inborn errors of immunity (IEIs)- Extensive experience with team-building, out-reach and teaching

- Using iPSCs derived from ataxia telangiectasia (A-T) patients to elucidate the mechanisms underlying early onset metabolic dysregulation and hepatic steatosis- Functionally characterizing a tyrosine kinase variant associated with early-onset idiopathic interstitial lung disease and immune dysregulatory features- Assessing for potential immune phenotypes in patients with disorders of the epigenetic machinery and examining their gene regulation data for mechanistic links

- Advised customers on wine purchases, and wine and food pairings- Organized, poured and educated at on-site and off-site tastings such as Bubble Bash- Attended industry tastings and assisted with curating the store’s selection, especially the German/Austrian section- Helped write wine descriptions for website and special offers

Please see Education below for additional details

Thesis advisor: Dr. Xiaolan Zhao (Please see Education below for additional details)Other rotations: Roeder, Allis, Bieniasz, Rudensky, Selleri labs - associated publications below

- Advocated for and introduced many small portfolios and young artisanal producers to the store and its customers- Wrote the weekly tasting newsletters, website descriptions and shelf-talkers, emphasizing the personal narrative of each grape, wine-maker, vineyard and region over lists of flavors- Was responsible for the store’s social media, introduced business advisors to help develop a new marketing strategy, and established partnerships with local businesses

o Demonstrated expertise in Old World wineso Demonstrated the ability to communicate enthusiasm for the wines recommended and perceive customer needs and personalitieso Motivated the rest of the part-time staff with tagging and organization projectso Re-organized the Rare Wine Room to display the “gems” of the collection to best advantage

- Helped identify the mechanism by which a microRNA regulates the megakaryocytic vs. erythrocyte lineage decision- Helped identify novel small molecules targeting androgen-independent prostate cancer and show that the mechanism underlying their activity was non-canonical Hsp90 inhibition- Developed a high-throughput Luminex-based assay for predicting the effects of small molecules on CYP450 expression- Established a complete RNAi and overexpression toolkit to examine the effects of tyrosine kinase (TK) loss- and gain-of-function in tumorigenesis- Helped apply a proteomics-based approach to understanding the mechanisms by which glioblastomas evade TK inhibitor therapy

- Spearheaded genetic epistasis studies and biochemical assays characterizing a multitasking DNA replication/repair protein Dna2- Developed a model for the role of Dna2 in lagging strand synthesis- Piloted investigations into a potential role for Dna2 in telomere maintenance- Established novel enzymatic assays for studying the human ortholog hDna2