Our Team

Postdoctoral Research Fellow

Email: aminmuta@broadinstitute.org

Mutaz obtained his MBBS and Master's degrees in Molecular Medicine from the University of Khartoum (Sudan). He finished his Ph.D. in Genetics at the University of Paris (France) studying the genetics of rare hereditary white matter diseases. He then worked for two years in Orphanet as a Geneticist/Gene curator and represented Orphanet in the international Consortium of Gene Curation Coalition (GenCC). He also was a member in the executive committee of the European Reference Network of experts on Intellectual disabilities (ERN-ITHACA). Mutaz is now a postdoctoral associate in the O’Donnell-Luria’s lab. He uses data from the gnomAD database to estimate the prevalence of rare diseases and helps in identifying rare disease diagnostics from exome and genome data. His research interests include rare disease genetics focusing on intellectual disabilities and neurodevelopmental disorders.

Clinical Genetics Fellow 

Email:  ccarlsto@broadinstitute.org 

Colleen is a clinical molecular geneticist currently completing her pediatrics and medical genetics residency at Boston Children's Hospital. Her research interests include the delineation of rare genetic conditions and the optimization of clinical laboratory practices to ensure more accurate, timely, and equitable diagnoses. She is looking forward to learning from ClinGen, the Rare Disease Group, and O'Donnell-Luria group members. Colleen received her M.D. from UCSF, completed her ABMGG laboratory fellowship at the University of Utah/ARUP, and defended her PhD at Cold Spring Harbor Laboratory on the regulation of microRNAs during C. elegans development. 

Visiting Research Intern

Email:  ecarbone@broadinstitute.org

Elizabeth is a visiting research intern working on identifying disease-causing variants using long-read sequencing to diagnose rare genetic diseases. She is currently a medical student at UMass Chan Medical School. Before medical school, she graduated from MIT studying Brain and Cognitive Sciences and Biology. 

Postdoctoral Research Fellow

Email: vganesh@broadinstitute.org 

Twitter: @VGaneshMDPhD

Vijay is an instructor and a neurologist at Brigham and Women’s Hospital, Harvard Medical School. His scientific interests are to understand the genetic architecture and improve the molecular diagnosis of Mendelian muscle diseases (such as muscular dystrophies and congenital myopathies). 

He completed a combined M.D.-Ph.D. at Harvard Medical School in 2014, with Ph.D. work focused on discovery and characterization of genes implicated in rare human brain malformation syndromes. He followed this with clinical training in neurology and subspecialty training in neuromuscular medicine at Massachusetts General Hospital and Brigham and Women’s Hospital, completed in 2019.

Computational Associate II

Email: majialan@broadinstitute.org

Jialan received her Master's degree from Carnegie Mellon University in computational biology and interned at Global Data Operations at Merck. She has experience developing, improving, and implementing genomics algorithms, building computational pipelines, and applying machine learning tools to analyze genomic data.

Associate Computational Biologist

Email: marten@broadinstitute.org 

Daniel is an Associate Computational Scientist working jointly between the gnomAD Methods Development Team and the O’Donnell-Luria Lab. Prior to joining the Broad, Daniel had graduated in 2022 from the Illinois Institute of Technology  with a B.S./M.S. in Biomedical Engineering and Biomedical Data Science. His current research projects include investigating unannotated genes - genes with proteins which are translated in tissue yet are not included in large protein databases - and the relationship between gene length, age, and constraint.

Visiting Graduate Student

Email:  omessaou@broadinstitute.org

ResearchGate

Olfa is an Assistant Professor working at Institut Pasteur de Tunis in Tunisia in the field of Human Genetics. She is a young investigator in the Global Genomic Medicine Consortium, an alumna of the Arab-German Young Academy of Sciences and Humanities, and a member of the DNA Repair Interest Group.

During the last 17 years, Olfa has been working on the molecular basis of rare DNA-repair diseases. Her research activities paved the way for the set-up of prenatal diagnosis and genetic counseling for several life-threatening diseases. Furthermore, she has helped in the introduction of molecular diagnosis for several non-communicable diseases that are quite frequent in Morocco, Egypt, Libya and Algeria.

Olfa is currently focusing on ultra-rare diseases and is eager to learn about the process of discovering new genes for undiagnosed patients. This is what motivated her to enroll at Harvard Medical School as a student in the Master’s program ‘Medical Sciences in Clinical Investigation’ and to join O'Donnell-Luria Lab for her research project.

Clinical Research Fellow

Email:  boleary@broadinstitute.org 

Briana is a current Maternal Fetal Medicine and Genetics fellow in the combined program at Brigham and Women’s Hospital and Boston Children’s Hospital. She previously completed her OB/GYN residency at Brigham and Women’s Hospital/Massachusetts General Hospital, after receiving her MD from Tulane School of Medicine. Her primary research interests revolve around prenatal diagnosis, including fetal phenotyping and application of genomic technologies in the prenatal setting. 

Postdoctoral Research Fellow  

Email:  Lindsay.Romo@childrens.harvard.edu

Lindsay received a bachelors in brain and cognitive sciences from MIT followed by an MD PhD in cell biology at UMass Medical School, where she studied mRNA alternative polyadenylation changes in Huntington disease. She then completed pediatrics residency at Boston Children's while researching noncoding variants in the MIT Burge lab. She completed her medical biochemical genetics fellowship, and is now a second year clinical genetics fellow at Boston Children's. She aspires to utilize research and patient-care expertise to enhance both clinical genetics and basic science research. Her clinical interests lie in patients who are undiagnosed after sequencing, and her research focuses on improving interpretation of noncoding variants. 

Postdoctoral Research Fellow

Email: singhmug@broadinstitute.org

Mugdha completed her doctoral training in population genomics and its applications in forensic and medical genetics at Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India. She is currently a postdoctoral research fellow in the O'Donnell-Luria Lab, passionate about identifying mechanisms underlying rare genetic disorders. Her primary focus is the analysis of population and rare disease data to study the mechanisms of incomplete penetrance.   

Samantha Baxter is a licensed, board-certified genetic counselor and associate director of data sharing in the TGG. This role includes managing the operations for gnomAD, overseeing all of the data sharing activities for Broad’s Center for Mendelian Genomics, and leading her team of variant curators.

As part of her ongoing research, she uses various curation processes to estimate the prevalence of rare disease in the global population.

Stephanie is a Clinical Genomic Variant Analyst working to discover novel disease genes and identify causal variants in rare disease exomes and genomes. She works closely with research and clinical collaborators around the world to diagnose patients and curate the clinical validity of rare gene-disease associations. Prior to joining the Broad, Stephanie worked for the ENCODE consortium at HudsonAlpha and earned her doctorate studying epigenetics in fetal development at UCSF.

LinkedIn

Eva is a Clinical Project Coordinator for the Rare Genomes Project. She studied Neuroscience as an undergraduate and has experience in patient care, community outreach, and patient-provider language interpretation services. Eva is interested in helping underserved communities and bridging the gap between language and access to healthcare.   

Emily is a Genomic Variant Analyst working to identify causal candidate genes/variants in rare disease exomes and genomes. Before Broad, she worked in clinical cytogenetics and genomics laboratories as part of her undergraduate training in diagnostic genetic sciences.  

Melanie is the Operations Lead for the Rare Genomes Project and a Principal Clinical Genomics Specialist at the Broad Institute. She oversees the operational aspects of the project. She is a licensed, board-certified genetic counselor who has worked in a variety of clinical, research, and clinical laboratory settings. 

LinkedIn

Ike is a Clinical Genomic Analyst assessing the disease consequence of genomic variation in individuals and families with rare disease through analysis of their exomes and/or genomes. Studying autistic children with self-injurious behavior, she received her doctoral degree in human genetics from Johns Hopkins University School of Medicine. 

LinkedIn

Lynn is a Clinical Genomic Analyst who uses large-scale population databases and genomic tools to discover new genes underlying Mendelian diseases.

She works closely with clinical collaborators from around the world to interpret rare genomes and identify causal variants in undiagnosed patients. 

Affiliate Researcher

Email: sgudmund@broadinstitute.org
Twitter: @s_gudmundsson

Sanna is a researcher at SciLifeLab/Royal institute of technology (KTH), Sweden & Affiliated researcher at Broad Institute of MIT and Harvard working in close collaboration with the O'Donnell-Luria team. She is focused on improving disease diagnosis and treatment by enhancing our understanding of variant-disease relationship and fundamental biological mechanisms. She has a special interest for factors that protect some carriers from severe disease, a phenomenon known as incomplete penetrance.

Sanna did her postdoc in the group from 2019-2022, working on improving variant interpretation and predicted function using the gnomAD dataset.

Affiliate Member

Email: glemire@cheo.on.ca

Gabrielle completed her medical and residency training in medical genetics at Université de Montréal and did a clinical research fellowship with the Care4Rare Canada consortium at the University of Ottawa. She is now a Clinical Geneticist at the Children’s Hospital of Eastern Ontario.

Sarah did her postdoc in the group from 2020-2025, working on exome and genome analyses for families with rare disease.

Affiliate Member

Victor Luria is an Associate Research Scientist working with Nenad Sestan in the Department of Neuroscience, Yale University, and a Visiting Scientist with Marc Kirschner in the Department of Systems Biology, Harvard Medical School. Victor studies how evolutionarily novel genes appear de novo, are taxon-restricted, encode small novel proteins, and function in the brain. He is an affiliate member of the O'Donnell Lab, where he focuses on the expression and sequence features of novel human proteins that are unannotated and discovered by proteogenomics. Before joining Yale and Harvard, he completed his Ph.D. at Columbia University in New York City, where he trained in genetics, biophysics, and neuroscience.

Affiliate Member

Email: eseaby@broadinstitute.org

Twitter: @drlecb

Ellie is a graduate student and clinical research fellow at the University of Southampton and Imperial College London, co-advised by Dr. Rehm and O’Donnell-Luria. She is a clinician utilising genome and exome data for rare disease diagnostics and novel gene discovery. Her work focuses on utilising large disease cohorts across the globe and constraint metrics to identify novel disease genes. Her research benefits from strong links with functional wet labs at the University of Portsmouth, UK.

Affiliate Researcher

Email:  monica.wojcik@childrens.harvard.edu 

Twitter: @HereAtMonica

Monica is an attending neonatologist and geneticist at Boston Children's Hospital, an Assistant Professor at Harvard Medical School, and an associated scientist at the TGG. Her research focuses on applying genomic medicine to neonatology, particularly outcomes associated with neonatal genetic diagnosis and understanding genetic contributions to infant mortality. 

2023-2024: Josephine was a computer science undergraduate student at MIT who worked on the genetic prevalence dashboard in the O’Donnell-Luria lab. 

2023-2024: Cynthia graduated from Wellesley College, class of 2024. She double majored in Biology and Women & Gender Studies. She is participating as an intern in the O'Donnell-Luria Lab under the Broad-Wellesley Program. Cynthia is interested in pursuing a master's in Public Health and attending medical school to become a physician. 

2022-2023: Malak was an Associate Professor in Pediatrics at King Saud University (KSU) and a pediatric medical geneticist at King Saud University Medical City. She received her M.D. from KSU, Saudi Arabia and her General Pediatric Board from the Saudi Commission for Health Specialties, and her Medical Genetics Board from Canadian College of Medical Geneticists.

Her clinical work in the University Hospital covers variable genetic conditions, mainly neurogenetic disorders and IEM. Her research interest focused on novel variant identification and interpretation, rare disease characterization, and novel gene discovery.

She has co-investigated on some projects, including a mitochondrial project, neurotransmitter projects, and brain energy failure.

2021-2023: Emily was a postdoctoral research fellow that graduated magna cum laude with Highest Honors in Human Evolutionary Biology from Harvard University. She received her M.D./Ph.D. from Columbia University College of Physicians and Surgeons; for her doctoral dissertation, she investigated the diagnostic utility of exome sequencing for kidney disease. In addition, she was an active member and Biocurator for multiple ClinGen Clinical Domain Working Group, including the Aminoacidopathy, Cerebral Creatine Deficiency Syndromes, and Urea Cycle Disorder Expert Panels. She hopes to pursue a career as a physician-scientist in pediatrics and medical genetics, helping advance the care of individuals with rare genetic diseases and their families through conducting bench-to-bedside research.  

2020-2022: William was working in the group as an associate computational scientist on processing and delivery of rare disease datasets with the Broad Center for Mendelian Genomics, improving the gnomAD resource, and understanding the role of unannotated genes in human disease. 

2020-2021: Jasmine was a clinical research assistant who worked as a medical scribe, developed and maintained Dr. O’Donnell-Luria’s RedCap database, and assisted with data cleaning initiatives.

2021-2025: Sarah was a postdoctoral research fellow aiming to increase the diagnostic capacity of genomic approaches for pediatric rare diseases to improve patient care.

Following her medical training in the UK, she completed her Ph.D. at the Technical University of Munich and the Helmholtz Zentrum München, where she focused on the integration of genomic, transcriptomic, and proteomic approaches to identify and validate novel disease-causing variants and to discover novel disease genes. She primarily focused on the diagnosis of pediatric suspected mitochondrial disease patients and the interpretation of more challenging variants, such as those with incomplete penetrance.

2022-2025: Chrissy Austin-Tse is a board-certified molecular geneticist who worked in Heidi Rehm’s group within the Center for Genomic Medicine at MGH, where she supports both clinical and research programs. She also serves as a part-time clinical molecular geneticist at the Partners Laboratory for Molecular Medicine. Chrissy specializes in sequence variant interpretation and the analysis of diagnostic whole exome and whole genome sequencing data.

2023-2025: Kayla was a Postdoctoral Research Fellow, directly reporting to Anne O'Donnell-Luria and Heidi Rehm. Before joining the Translational Genomics Group, Kayla completed her doctorate at Drexel University. Her research at the Center for Advanced Microbial Processing and the Center for Genomic Sciences was to identify novel biomarkers to detect pathogens within the complex microbiomes of several rising tick vectors and across the Borreliaceae family of spirochetes.

2023-2025:  Siwaar Abouhala was a Clinical Research Coordinator working on the Rare Genomes Project (RGP), an NIH-funded, direct-to-patient genome sequencing study. Siwaar graduated summa cum laude with highest thesis honors from Tufts University in May 2023, where she triple majored in community health, Arabic, and biology on the pre-medicine track. During her senior year, Siwaar completed a thesis in community health based on her research in the Departments of Newborn Medicine, and Genetics and Genomics at Boston Children’s Hospital, entitled: “Rare Yet Resilient: The Role of Neonatal Genetic Testing & Rare Disease Prognosis on Parental Psychosocial Outcomes, Coping Mechanisms, & Hospital System Recommendations.” She deeply enjoyed supporting patients and families experiencing rare genetic and/or metabolic disease, and is excited to continue similar work at the Broad.