Speed Mentoring Sessions
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- Molecular Genetics
- Molecular Diagnostics and Cytogenetics
- Clinical Molecular Genetics
- Clinical Genetics
- Molecular and Cytogenetics
- Laboratory Genetics
- Cancer Genetics
- Cytogenetic Testing
- Biochemical Genetics
- Genetic Counseling
- Genetic Cardiology
- Pediatric Genetics
- Cytogenetics
- Clinical and Medical Biochemical genetics
- Medical Genetics and Obstetrics
- Neurogenetics
- Medical Biochemical Genetics
- Laboratory
- Research
Biochemical Genetics
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- Biochemical Genetics
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Henry J. Mroczkowski, MD, PhD, FACMG is a Medical Geneticist in the greater Memphis, Tennessee area who covers Le Bonheur Children's Hospital (LBCH), St. Jude Children's Research Hospital (SJCRH) and Memphis Healthcare System. He specializes in inborn errors of metabolism and cardiovascular genetic disorders. He trained at the University of Pittsburgh (UPMC) at both Magee Women's Hospital and Children's Hospital of Pittsburgh. His research has focused on the role Study of the underlying metabolic and immunological mechanism of genetic disorders related to fatty acid oxidation and aging. He also currently participates in the Biorepository and Integrative Genomics (BIG) Initiative. Previous research experience in bone metabolism as related to osteoporosis and bone mineral density. He is involved in several activities in ACMG and has served / serves on the membership committee, therapeutic committee and education and professional development committee. He was involved in the recent PKU update. He also is involved with the Tennessee newborn screening program and sees patients from the Tri-state area (Arkansas, Mississippi and Tennessee) of Memphis
Cancer Genetics
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- Cancer Genetics
Dr. Gokce Toruner is a laboratory geneticist at MD Anderson Cancer Center, specializing in the cytogenetics of hematological malignancies, as well as NGS-based testing of solid tumors and liquid biopsies. Dr. Toruner has published on the genetic basis of solid tumors, utilizing high-throughput technologies such as gene expression microarrays, chromosomal microarrays, and next-generation sequencing. His recent research has focused on the cytogenetics of hematological malignancies, with a particular emphasis on the application of optical genome mapping in these disorders. Dr. Toruner also oversees the cytogenetics laboratory rotations at MD Anderson Cancer Center for residents and fellows
Clinical and Medical Biochemical genetics
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- Clinical and Medical Biochemical genetics
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Dr. Olivia D’Annibale is an assistant professor and laboratory director at the Cincinnati Children’s Hospital Medical Center. Dr. D’Annibale specializes in clinical biochemical genetics test sign out and method development, as well as fatty acid oxidation disorders and enzyme activity assays. Her research has focused on the mass spectrometry method development, biomarkers for rare disease, and enzyme activity measurements, in addition to newborn screening efficacy in Ohio. Dr. D’Annibale is also involved in teaching with the genetics residency, categorical genetics fellowship, laboratory genetics and genomics fellowship, and genetic counseling training program at Cincinnati Children’s Hospital Medical Center.
Clinical Genetics
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- Clinical Genetics
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Dr. Andreea Popa is an ABMGG certified clinical molecular laboratory geneticist, physician scientist by training, with broad clinical, research and molecular diagnostics experience. She is interested in serving patient care, by applying the advances in molecular genetics diagnostics and screening, towards an enhanced personalized health approach. Dr. Popa has extensive experience with whole exome sequencing and panel interpretation and reporting for inherited disorders, as well as with tumor molecular profiling. She is interested in translating the knowledge and discoveries made in the basic sciences into medical practice, to improve human health.
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- Clinical Genetics
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Dr. Wagner completed his undergraduate and medical school education at the University of Wisconsin. He then pursued an obstetrics and gynecology residency at Aurora Sinai Medical Center in Milwaukee, Wisconsin. Following clinical interest and undergraduate research experience, he took a fellowship in Clinical Genetics at Magee-Women's Hospital/University of Pittsburgh. Dr. Wagner then joined the OB/GYN faculty at the University of Oklahoma Health Sciences Center where he was involved in clinical practice, teaching, and research in reproductive genetics to medical students, genetic counseling students, residents, and fellows. In 2016, he joined the faculty at Northwestern University's Feinberg School of Medicine in the division of clinical genetics of the department of obstetrics and gynecology. He serves as Co-Medical Director at Reproductive Genetic Innovations in Northbrook. Dr. Wagner is board certified by both the American Board of Medical Genetics and Genomics and the American Board of Obstetrics and Gynecology. His clinical interests include prenatal diagnosis, genetics education, genetic counseling, and cancer genetics. When not at work, you may find regular videos of Andy playing song covers on the saxophone on his YouTube channel, @afwagner
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- Clinical Genetics
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Dr. Larson is an Associate Professor on the faculty at the University of Colorado School of Medicine. His areas of focus include mitochondrial disease'Bolds, congenital disorders of glycosylation, clinical trials, ocular genetics, dermatology genetics and rural outreach. He is the program director of the medical genetics residency.'
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- Clinical Genetics
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Dr. Chen-Han Wilfred Wu is a geneticist and urologist aspiring to bring two specialties together to help our patients.
His research focuses on utilizing large datasets from electronic medical records and genomic data from comprehensive sequencing. Current projects span kidney stones, male infertility, transgender studies, genitourinary cancers (renal, bladder/urothelial, prostate), congenital anomalies of kidneys and urinary tracts. The lab employs both dry and wet lab approaches, integrating germline and somatic genetics, transcriptome, epigenome, biochemical genetics, phenome, and clinical outcomes. In partner with Moderna, the lab also conducts two mRNA clinical trials.
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- Clinical Genetics
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Dr. Beleford is a clinical geneticist and physician scientist at the University of California, Davis. She'completed the Medical Scientist Training Program at'Mayo Clinic in Rochester, MN. She completed residency and fellowship in medical genetics and a postdoctoral fellowship in vascular biology and human genetics at the University of California, San Francisco. Dr. Beleford sees pediatric and adult patients with genetic disorders but specializes in patients with vascular malformations. She also has a clinical interest in sex chromosome aneuploidies and in adult genetics. She is also the principal investigator of an independent basic science/translational lab that studies the genetics of vascular malformations ' disordered development of arteries and veins.
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- Clinical Genetics
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Dr. Miller is a practicing Clinical Geneticist at Boston Children's Hospital, and Associate Molecular Pathologist at Brigham and Women's Hospital. His clinical and research interests are in Neurofibromatosis, neurodevelopmental disorders, and clinical genetic test implementation and utility,'particularly for chromosomal microarray and exome sequencing. He directs the Neurofibromatosis Research Initiative (NFRI) at Boston Children's Hospital. Through the NFRI, he created the international Genomics of MPNST (GeM) Consortium, an effort to characterize the genomic architecture of this rare NF1-related tumor to improve clinical management. He has led or served on several national committees and advisory boards focused on best practices for clinical genetics and genetic testing, including: Chair of ACMG's Professional Practice and Guidelines Committee; Co-Chair of ACMG's Secondary Findings Maintenance Working Group; Member of ACMG's Evidence-Based Medicine Working Group and Topic Selection Committee. Dr. Miller is Associate Professor of Pediatrics at Harvard Medical School where he is also Co-Director of the Advanced Integrated Science Course in Human Genetic
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- Clinical Genetics
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Dr Kimonis is currently a clinician Scientist and tenured professor in the Division of Genetics and Genomic Medicine, Department of Pediatrics, UC Irvine, and Children’s Hospital, Orange County. Dr. Kimonis received her medical degree from Southampton Medical School, United Kingdom and trained in pediatrics and general practice in the UK before moving to the US. She completed a residency in pediatrics at Massachusetts General Hospital, Boston and fellowship training in Clinical and Biochemical Genetics at the National Institutes of Health, Johns Hopkins and Washington D.C. Children's Hospital. She is board certified in Pediatrics, in addition to Clinical and Biochemical Genetics. She previously served as the Chief of Genetics at Southern Illinois University School of Medicine. She worked at Boston Children’s Hospital/Harvard Medical School before joining UC Irvine in 2006 serving as the Chief of the Division of Genetic Medicine and Genomic Medicine until 2012.
Dr. Kimonis discovered an important disease: multisystem proteinopathy associated with mutations in the VCP gene. She has an active clinical research and laboratory program that primarily focuses on inherited muscle diseases including HSPB8 and Pompe disease. Dr. Kimonis' specializes in the diagnosis and management of neuromuscular, neurodegenerative, lysosomal storage diseases and other complex rare disorders. She leads an active clinical and basic research programs that focus on inherited muscle disorders, lysosomal storage and mitochondrial diseases. Her research is funded by the NIH, FDA, MDA, VoLo, AMDA, and other foundations. Dr. Kimonis’s goal is to establish a premier clinical, and translational research program in rare genetic diseases.
Clinical Molecular Genetics
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- Clinical Molecular Genetics
Dr. Yang Wang is a clinical molecular geneticist and Laboratory Director for Women's Health at Natera. She specializes in molecular genetic testing, including carrier screening, hereditary cancer, and non-invasive prenatal testing (NIPT). Dr. Wang is also an expert in newborn screening and diagnostic testing for rare diseases. With extensive experience in whole genome sequencing (WGS), whole exome sequencing (WES), and other molecular technologies such as Sanger sequencing, MLPA, PacBio, and qPCR, she has contributed significantly to the field of molecular diagnostics. In addition, she is highly experienced in variant curation and has participated in multiple ClinGen expert panels
Cytogenetic Testing
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- Cytogenetic Testing
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Dr. Hidalgo is a genetic counselor at ARUP laboratories in Salt Lake City, UT who specializes in cytogenetic testing and test utilization. She was a clinical prenatal genetic counselor in the Maternal Fetal Medicine department at Intermountain Hospital prior to her laboratory genetic counseling position. Her previous research includes transcriptional regulation of cardiac and mitochondrial function.
Cytogenetics
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- Cytogenetics
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Rachel Burnside is a cytogenetics laboratory director in the department of Pathology at the University of Florida. Prior to her academic role, Dr. Burnside was a cytogenetics director for LabCorp in North Carolina for 10 years, and has worked in industry, leading product management and global marketing teams for Beckman Coulter Diagnostics from 2018 to 2022. Dr. Burnside's lab at UF primarily specializes in hematological malignancies. Her scholarly interests include medical genetics education, and she has presented her work at national conferences (including this meeting). She is a course director for the medical genetics course at UF's medical school, and is enthusiastic about introducing students at all levels to laboratory genetics and clinical laboratory science as a career.
Genetic Counseling
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- Genetic Counseling
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Mugdha Devalkar is a Cancer Genetic Counselor at the Lewis Cancer Centre in Savannah, Georgia. She holds a Master's degree in Human Genetics from Sarah Lawrence College, as well as a Master's degree in Neurosciences from Mumbai University. She is also a certified Genetic Counselor in India, where she gained experience as a Laboratory Genetic Counselor at PerkinElmer, specializing in genetic testing and variant interpretation. Her graduate thesis at Sarah Lawrence College focused on understanding the perspectives and attitudes of patients regarding Fragile X testing within the context of expanded carrier screening. Prior to her master's, her research in India concentrated on neuromuscular disorders, including genetic testing and developing new diagnostic approaches for conditions like muscular dystrophies and myopathies.
Laboratory
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- Laboratory
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Dr. Guillen Sacoto is a physician trained in Internal Medicine, Clinical Genetics and Clinical Molecular Genetics. Her career has focused on new disease discovery using the power of genomic testing. She led the team of gene-disease validity curators at GeneDx and has collaborated in over 50 publications helping families with rare disease find answers. She is currently the Scientific Director of Research and Innovation at GeneDx and her research interests involve the responsible use of artificial intelligence tools in genetics to broaden access and improve health outcomes.
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- Laboratory
Rhea Behlmann is currently a Laboratory Director at Invitae. Her operational expertise includes assay validation, product support, process improvement, client communication, and ensuring regulatory compliance for molecular genetics diagnostic assays. Case reporting includes sequencing and structural variant interpretation & reporting for exome, panel sequencing for both diagnostic and carrier purposes, non-invasive prenatal screening (NIPS), and chromosomal microarray. Prior to joining Invitae, Dr. Behlmann served as a clinical laboratory director at PerkinElmer Genomics and EGL Genetic Diagnostics. She brings with her over 10 years of experience in the clinical diagnostics field from multiple laboratory perspectives, including as a clinical laboratory scientist, validation assay development specialist, and clinical laboratory director. She has co-authored several publications as part of the American College of Medical Genetics (ACMG) Laboratory Quality Assurance committee, as well as research articles and clinical case studies. Dr. Behlmann completed her ABMGG clinical training from Emory University in Atlanta, GA, and earned her doctoral degree in Genetics from Washington University in St. Louis, MO
Laboratory Genetics
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- Laboratory Genetics
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Priyanka Arya is a'board-certified clinical molecular geneticist'by the American Board of Medical Genetics and Genomics.'She'joined'Natera'in June 2020. In her current role, Priyanka is the lab Director of Natera's Austin site'where she'manages Women's Health products including carrier screening and'andnon-invasive prenatal testing (NIPT). Priyanka'received her doctorate'in'genetics from'the'University of Nebraska Medical Center'and'completed'her clinical training in'cytogenetics and molecular genetics at Indiana University.'Prior to joining Natera, Priyanka was a clinical molecular geneticist at Advocate Aurora Health, Illinois.'Priyanka is passionate about mentorship and hopes to foster'meaningful relationships through participation in this speed mentorship program.
Molecular Diagnostics and Cytogenetics
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- Molecular Diagnostics and Cytogenetics
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Dr. Barrie is an Associate Director of both the Molecular Diagnostics and Cytogenetics laboratories at Virginia Commonwealth University Health System. She also serves as a core faculty member and the Associate Program Director for the Laboratory Genetics and Genomics (LGG) fellowship program. She is board certified in Clinical Cytogenetics and Genomics as well as Clinical Molecular Genetics and Genomics through ABMGG. Dr. Barrie's clinical and research interests involve genetic testing for both inherited and acquired conditions with a particular interest in prenatal cell-free DNA screening. She is also involved in the implementation, and application of new technologies in the laboratory including next-generation sequencing. She has successfully coordinated international research collaborations to investigate the phenotypes linked to novel variants in rare diseases.
Molecular Genetics
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- Molecular Genetics
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Dr. Ashley Birch is an ABMGG board-certified molecular geneticist with 10 years of experience in clinical diagnostic and carrier screen testing. Dr. Birch is currently a director of Variant Science at GeneDx, where she leads a team of 60 Variant Scientists in the interpretation of sequence and copy-number variants identified in exome, panel, and array genetic tests.' Previously, Dr. Birch was a laboratory director at Sema4, where she helped develop and scale expanded carrier screening tests. She was also appointed at the Icahn School of Medicine at Mount Sinai, where she has lectured on variant interpretation and participated in molecular genetics training of laboratory fellows for 8 years. -
- Molecular Genetics
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Dr. Nallamilli is a laboratory director of clinical molecular genetics at the Revvity Omics. Dr. Nallamilli specializes in clinical case sign-out, new test development and validations in the field of clinical molecular genetics with over 12 years of experience. His clinical research has focused on understanding the clinical and genetic basis of neuromuscular disorders including Duchenne muscular dystrophy and limb girdle muscular dystrophies. Dr. Nallamilli is also the lead R&D director of the clinical molecular genetics division at Revvity Omics.
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- Molecular Genetics
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Ruth Baxter is ABMGG certified in Clinical Molecular Genetics and Genomics. She has held multiple roles at Ambry Genetics where she is currently a Senior Director in the R&D department. Dr Baxter's main responsibilities have been overseeing the analytical validation of LDTs (Lab Developed Tests) for patient testing in a high complexity CAP/CLIA laboratory. She has over ten years' experience in the development and validation of NGS tests for targeted panels and exomes, in addition to the multiple orthogonal verification methods that are used at Ambry Genetics. 'More recently she has taken on additional responsibilities in early product development as the industry starts working towards the requirements of design control laid out in the FDA final rule on LDTs
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- Molecular Genetics
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Dr. Qiao is a clinical molecular geneticist at Stanford Medicine. She leads clinical test development and variant interpretation at the Stanford Clinical Genomics Laboratory. Her current efforts focus on genome testing and analysis for cardiovascular diseases, kidney disease, and spinal muscular atrophy. Dr. Qiao's research aims to improve diagnostic yield for pediatric epilepsy and develop comprehensive testing using long-read sequencing. She also mentors trainees across specialties and collaborates with clinicians on research into inherited disorders and new testing opportunities.
Research
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- Research
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Dr. Alexandre Bolze is a principal scientist and principal investigator at Helix Inc., a California-based biotech company. Helix works with health systems across North America (16 health systems as of January 2025) to integrate genomics into healthcare. His research interests span both clinical and basic research. In his clinical research, Dr. Bolze focuses on assessing the clinical impact of having pathogenic variants in CDC Tier 1 genes within the general population. He also works on expanding screening panels for population screening by combining rare variants and polygenic risk scores, and investigates the genetics of disease resistance. Dr. Bolze's basic research is centered on understanding the genetics of immune responses following vaccination, including rare adverse events like myocarditis. He leads an international consortium dedicated to this research.
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- Research
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Dr. Preston is a' Senior Biocuration Scientist and Product Manager at Stanford University working as part of the'Clinical Genome Resource'(ClinGen). She focuses on the development of the ClinGen Variant and Gene Curation User Interfaces. Before joining ClinGen, Christine held product manager and customer success scientist roles at'Dovetail'Genomics, and was on the product development team at Invitae (now LabCorp), a medical genetics company. Christine holds a B.A. in Biology from the University of California, Santa Cruz, and a Ph.D. in Molecular & Cell Biology from the University of California, Berkeley
Biochemical Genetics
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- Biochemical Genetics
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I hail'from San Diego and completed my MD and a PhD in Molecular Genetics and Genomics at Washington University in St. Louis. A residency in Pediatrics brought me back to California to the University of California, San Francisco, where I also completed a postdoctoral fellowship, a residency in Medical Genetics, and two years as an Assistant Clinical Professor before coming to Kaiser Permanente, where I joined in 2018. I chose Genetics as a profession because our DNA is both deeply personal and yet is a 4-letter language that can be read by a machine, creating opportunities for scientific exploration and human connection at the same time. In the field of Genetics, my interests lie in biochemical and mitochondrial disorders. I am also interested in population genomics and the role of genetic screening in the future of health care
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- Biochemical Genetics
Henry J. Mroczkowski, MD, PhD, FACMG is a Medical Geneticist in the greater Memphis, Tennessee area who covers Le Bonheur Children's Hospital (LBCH), St. Jude Children's Research Hospital (SJCRH) and Memphis Healthcare System. He specializes in inborn errors of metabolism and cardiovascular genetic disorders. He trained at the University of Pittsburgh (UPMC) at both Magee Women's Hospital and Children's Hospital of Pittsburgh. His research has focused on the role Study of the underlying metabolic and immunological mechanism of genetic disorders related to fatty acid oxidation and aging. He also currently participates in the Biorepository and Integrative Genomics (BIG) Initiative. Previous research experience in bone metabolism as related to osteoporosis and bone mineral density. He is involved in several activities in ACMG and has served / serves on the membership committee, therapeutic committee and education and professional development committee. He was involved in the recent PKU update. He also is involved with the Tennessee newborn screening program and sees patients from the Tri-state area (Arkansas, Mississippi and Tennessee) of Memphis
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- Biochemical Genetics
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Dr. Pasquali is a Clinical Biochemical Geneticist at the University of Utah and ARUP Laboratories.' She is Medical Director of Biochemical Genetics at ARUP Laboratories. Her focus is development of new methods for the screening and the diagnosis of inherited metabolic disorders, with emphasis on disorders of carnitine and creatine metabolism and transport and lysosomal storage disorders. She is also the Program Director of the ACGME accredited Fellowship program in Clinical Biochemical Genetics at the University of Utah.
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- Biochemical Genetics
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Dr. Sarah H. Elsea is'nationally and internationally recognized as an expert in neurodevelopmental and neurometabolic disorders. As the Director of Clinical Genomics for the BCM-HGSC Clinical Laboratory, she oversees clinical reporting for the CLIA laboratory including large-scale research population genome sequencing projects, undiagnosed rare disease programs,' ethical compliance, and integration of multi-omics data for diagnosis. Dr. Elsea's research program is focused on discovery, diagnosis, pathomechanisms, and treatment of rare disease across the lifespan, particularly neurodevelopmental, neurometabolic, and neurodegenerative disorders, from basic science to patient and family outcomes. Her clinical work at BCM is focused on development of clinical metabolomics, biomarker discovery, and approaches to treatment, as well as the utilization and integration of multi-omics technologies to develop and define model systems for investigation, treatment, and monitoring of rare and complex disease. Dr. Elsea is passionate about her work and currently serves as a board member of the American College of Medical Genetics & Genomics Foundation, and she serves as Chair of the PRISMS Professional Advisory Board for Smith-Magenis syndrome and on the board of the PTLS Hope Research Foundation. She is a member of several professional societies and has authored >150 scientific and lay articles.'
Cancer Genetics
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- Cancer Genetics
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Dr. Jay'is a Voluntary Clinical Professor at Wayne State University School of Medicine in the Center for Molecular Medicine and Genetics, and Director of Henry Ford St. John's Cancer Genetics program. Dr. Jay is Board Certified in Clinical Genetics, Medical Biochemical Genetics, and Clinical Biochemical Genetics. Dr. Jay completed the City of Hope Intensive Course in Cancer Risk Assessment in 2017, and remains active in the City of Hope community of practice.' Dr. Jay attended the University of Chicago Pritzker School of Medicine, then completed a residency at Wayne State in Genetics, and a fellowship at the Mayo Clinic in Biochemical Genetics.' Dr. Jay is involved in multidisciplinary clinical work and training of the rotating medical students, pediatric residents, obstetrics/gynecology residents, and hematology/oncology fellows in genetic cancer risk assessment.' In addition to her cancer genetics duties, she is active in doing consultations for the Henry Ford St. John Pediatrics department.' Her research focuses on genetic counseling and health equity with telehealth, and providing resources to decrease financial toxicity related to genetic testing for cancer patients. She is a member of the American Medical Association, the American College of Medical Genetics, and Society of Inherited Metabolic Disease
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- Cancer Genetics
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Dr. Mark Kiel is the chief scientific officer at Genomenon, where he oversees the company's scientific direction and product development. Mark received his MD/PhD in Clinical Pathology at the University of Michigan, and founded Genomenon to address the challenge of connecting pharma researchers with evidence in the literature to help diagnose and treat patients with rare genetic diseases and cance
Clinical and Medical Biochemical genetics
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- Clinical and Medical Biochemical genetics
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Dr. Lauren Thompson is a clinical and biochemical geneticist. She earned her medical degree from Edward Via College of Osteopathic Medicine in Spartanburg, South Carolina. Dr. Thompson completed a combined residency program in pediatrics and medical genetics at University Hospital Cleveland Medical Center/Rainbow Babies & Children's Hospital in Ohio. She then pursued a fellowship in medical biochemical genetics at the University of Colorado Anschutz Medical Campus in Aurora, Colorado. She is board certified in clinical genetics, medical biochemical genetics, and general pediatrics.Dr. Thompson's clinical interests include inborn errors of metabolism and medical education.' She has been an active member of American College of Medical Genetics and Genomics (ACMG) and currently serves on the ACMG Education committee. She has hosted many different medical education lectures and is a mentor to many current and past trainees. Her work has also been published in peer-reviewed journals and she has presented at various medical conferences.
Clinical Genetics
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- Clinical Genetics
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Chad Haldeman Englert is a medical geneticist practicing at Cone Health in Greensboro, NC. He is the medical director of the precision health department, overseeing a program that involves pediatric, cancer, and prenatal genetics. He is also the principal investigator for a population health genomics screening program (GeneConnect) in partnership with the testing company Helix. His job involves seeing adult and pediatric patients for evaluation of suspected genetic conditions, and managing the GeneConnect research program.
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- Clinical Genetics
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Dr. Kapalanga's current scholarly and research pursuits are in the epigenetics of neurodevelopmental disorders. He has observed that a certain behavioral endophenotype characterized by impaired executive function, emotional regulation, cognition learning and social adaptation is shared by certain neurodevelopmental disorders including attention deficit hyperactivity' disorder, autism spectrum disorder, fetal alcohol spectrum disorder and fragile X syndrome. He is currently exploring the underlying shared molecular mechanisms that could explain the shared behavioral endophenotype. He has published and presented his research at international conferences over the past ten years.
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- Clinical Genetics
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Dr. Kelly Jones is a clinical geneticist at Arkansas Children's Hospital/University of Arkansas for Medical Sciences, focusing on genetic disorders that result in developmental delay, congenital malformations and autism spectrum disorders.' She is also a member of a craniofacial multidisciplinary team at Arkansas Children's Hospital and has published research on Turner syndrome and genetic syndromes in diverse populations.'
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- Clinical Genetics
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Dr. Anastasio is a clinical and laboratory geneticist at the Sherbrooke University hospital in Quebec, Canada. Following her Medical Genetics residency at McGill University, she pursued a fellowship in Laboratory Molecular Genetics in both Boston (The Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine) and Montreal (McGill University). She began practicing in 2021 and splits her time between clinical and laboratory work. Since October 2025, she is the chief of the Medical Genetics Service, Clinical and Laboratory sectors. She is also actively involved in teaching of medical students, residents and undergraduate students.
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- Clinical Genetics
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Suma Shankar MD, PhD, FRCS, MRCOphth is a Professor in the Departments of Pediatrics and Ophthalmology and is Chief of Genomic Medicine at University of California Davis. She serves as the Director of Precision Genomic Program and Ocular Genomics clinic at UC Davis and holds the Albert Rowe Endowed Chair of Genetics II. She sees patients with a wide range of genetic disorders with special interest and expertise in Ophthalmic Genetic disorders, RASopathies and Nonverbal ASD and NDDs. The Genomic Medicine team provide comprehensive clinical genetics services including facilitation of whole genome sequencing, genetic counseling, and management of genetic disorders. She directs the Precision Genomics program for clinical translational research collaborating with Mouse Biology Program, Stem cell research program, Clinical and bioinformatics programs at UC Davis.
Clinical Molecular Genetics
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- Clinical Molecular Genetics
Dr. Marina DiStefano (she/her) is a board-certified clinical molecular geneticist and is the Director of Clinical Genomic Operations at Broad Clinical Labs, which is the clinical lab based at the Broad Institute of MIT and Harvard. She is a Principal Investigator for the Clinical Genome Resource (ClinGen) and also directs the Broad-based ClinGen biocuration team and sits as a framework expert on 15 ClinGen expert panels across a range of different disease areas. Her research interests involve testing and setting curation standards in gene curation, variant curation, and disease ontologies. In her clinical work, she focuses largely on genome sequencing and interpreting and signing out reports for rare disease patients.'
Cytogenetics
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- Cytogenetics
Rachel Burnside is a cytogenetics laboratory director in the department of Pathology at the University of Florida. Prior to her academic role, Dr. Burnside was a cytogenetics director for LabCorp in North Carolina for 10 years, and has worked in industry, leading product management and global marketing teams for Beckman Coulter Diagnostics from 2018 to 2022. Dr. Burnside's lab at UF primarily specializes in hematological malignancies. Her scholarly interests include medical genetics education, and she has presented her work at national conferences (including this meeting). She is a course director for the medical genetics course at UF's medical school, and is enthusiastic about introducing students at all levels to laboratory genetics and clinical laboratory science as a career.
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- Cytogenetics
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Dr. Schwartz has published over 180 peer reviewed journal articles and 24 invited chapters. He is a past president of the American Board of Medical Genetics and more recently on the Board and a past president of the Cancer Cytogenomics Consortium. He is also a former Cytogenetics section editor for both the American Journal of Medical Genetics and for Genetics in Medicine and has been a reviewer for numerous journals. He was honored as the 2018 recipient of the American Cytogenetics Conference Distinguished Cytogeneticist Award.
Dr. Schwartz has extensive experience in cytogenetics, FISH and microarray analysis and has been instrumental in the development of the microarray studies at CMBP involving postnatal, prenatal, products of conceptions and oncology specimens. Most of his more recent work involves implementation and improvement of microarray analysis in the clinical laboratory. Over the course of his career he has been responsible for the training of over 25 students and postdocs mostly in clinical cytogenetics and molecular cytogenetics
Genetic Cardiology
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- Genetic Cardiology
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Dr Rafik Tadros is a cardiologist and clinical electrophysiologist at the Montreal Heart Institute (MHI) where he is director of the MHI Cardiovascular Genetics Centre. He is associate professor at the Faculty of Medicine at Universit' de Montr'al, where he holds the Canada Research Chair in Translational Cardiovascular Genetics. His clinical interests are sudden death in the young and cardiomyopathies. His research program focuses on applying genomics to cardiovascular clinical care and prevention as part of personalized medicine.
Laboratory
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- Laboratory
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Dr. Liao is a laboratory director and associate professor in the Department of Pathology and Cell Biology at the Columbia University Irving Medical Center. He is ABMGG Board certified in both Clinical Cytogenetics and Clinical Molecular Genetics. He also serves as the Associate Program Director for Laboratory Genetics and Genomics (LGG) Fellowship Training at Columbia. His research areas of interest include new disease gene and variant discovery, novel technologies for genetic diagnosis, prenatal testing and screening, and expanded carrier screening.
Laboratory Genetics
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- Laboratory Genetics
Priyanka Arya is a'board-certified clinical molecular geneticist'by the American Board of Medical Genetics and Genomics.'She'joined'Natera'in June 2020. In her current role, Priyanka is the lab Director of Natera's Austin site'where she'manages Women's Health products including carrier screening and'andnon-invasive prenatal testing (NIPT). Priyanka'received her doctorate'in'genetics from'the'University of Nebraska Medical Center'and'completed'her clinical training in'cytogenetics and molecular genetics at Indiana University.'Prior to joining Natera, Priyanka was a clinical molecular geneticist at Advocate Aurora Health, Illinois.'Priyanka is passionate about mentorship and hopes to foster'meaningful relationships through participation in this speed mentorship program.
Medical Biochemical Genetics
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- Medical Biochemical Genetics
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Dr. Corado is a medical biochemical geneticist and faculty at the Clinical Genetics Division, Columbia University. He has various clinical and research interests including inherited neurometabolic disorders, neurogenetic and bone disorders. He has a strong interest in education and professional development as exemplified with his participation in various committees within ACMG and NORD; and by his appointment as Associate Program Director for the Clinical Genetics Programs at Columbia Universit
Medical Genetics and Obstetrics
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- Medical Genetics and Obstetrics
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Dr. Dallas Reed is an Obstetrician/Gynecologist and Medical Geneticist at Tufts Medical Center.' She specializes in obstetrics, as well as prenatal, cancer, pediatrics, and adult genetics.' She is driven by a passion for genetics education, equity and inclusion, and the delivery of compassionate care to individuals and families facing pregnancy-related challenges and uncertainties surrounding genetic diagnoses.' Her commitment to education is evident through her extensive experience in instructing medical students, genetic counseling students, residents, fellows, physicians, and other medical professionals in prenatal, cancer, and clinical genetics topics. She leverages her expertise in genetics as a consultant, serving as the Principal Medical Advisor for Women's Health at Myriad Genetics, a member of the Clinical Advisory Board for Mirvie, and an expert witness.
Molecular and Cytogenetics
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- Molecular and Cytogenetics
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Dr. Preti Jain is a Molecular and Cytogeneticist at GeneDx, MD. Dr. Jain specializes in hereditary cancers, rare diseases, bioinformatics, process improvement, and operational efficiency. She has published research on rare genetic disorders in children. Her research has focused on developing methods tailored for investigating the genetic origins of neurological diseases. She leverages cutting-edge methods to sift through vast genomic information and identify insights contributing to our understanding of complex disorders. She also oversees streamlining laboratory processes, optimizing data analysis pipelines, and ensuring that research workflows are efficient and effective.
Molecular Genetics
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- Molecular Genetics
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Dr. Liu is a board-certified PhD clinical geneticist with a primary research interest in translating new technologies into clinical testing to advance the diagnostics and therapy of rare diseases. His clinical work has provided key evidence to recognize the necessity and importance of clinical reanalysis of diagnostic exome data. Dr. Liu has spearheaded the implementation of clinical whole-genome sequencing and clinical RNA sequencing for the Undiagnosed Diseases Network (UDN) and has launched these clinical tests at the Baylor Genetics diagnostic laboratory. He has received multiple honors and awards, including the Michael Watson's Genome Medicine Innovation Award from the ACMG, the Genomic Innovator Award from the NHGRI, and the Cotterman Award from the ASHG.
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- Molecular Genetics
Dr. Mao is an ABMGG board certified molecular geneticist at University of Utah and ARUP Laboratories.' 'Dr. Mao specializes in diagnosis of the patients with genetic conditions, exome sequencing in the patients for diagnostic odyssey and whole genome sequencing in the critical illness neonates. Her research interests include the genotype-phenotype correlations in inborn errors of metabolism and genetic diseases in the RAS/MAPK pathway, and she is involved with implementing Next-Generation Sequencing (NGS) techniques into molecular diagnostics. Dr. Mao is also the Co-director of Laboratory Genetics and Genomics (LGG) fellowship at University of Utah.
Neurogenetics
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- Neurogenetics
Andrea Gropman, M.D. is a neurogeneticist and international expert in Urea cycle disorders (UCD), Smith Magenis syndrome (SMS), X and Y chromosome aneuploidies, and mitochondrial disorders.' Her research has focused on 1) multimodal imaging in urea cycle disorders and other neurogenetic conditions to establish neural biomarkers of connectivity and brain injury; 2) sleep disorders and cognitive phenotype in SMS; 3) cognitive and neurological aspects of X and Y chromosome disorders; and 4)functional mitochondrial studies and therapeutics. She has presented her work at both national and international conferences in neurology, genetics, and metabolism. She serves on the neurotherapeutics committee of ACMG, community education outreach (PEAK) at ASHG, American Brain Coalition as the designated representative from the Child Neurology Society, the education committee of SIMD, the annual program committee of the American neurological society, past chair of the Neurogenetics Special interest group at ANA, and the chair of neurogenetics at Child Neurology society.' She is the principal investigator of the urea cycle rare disease consortium.' For the past 25 years she was the division chief of neurogenetics, a division she created, served as NDD fellowship director, director of clinical translational research and interim director of the genetic medicine center. In October 2024, she moved to St Jude to build a neurometabolic translational research program and a neurogenetics/neurotherapeutics fellowship program.
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- Neurogenetics
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Dr. Sen is one of the few physicians in the country with dual training in neurology and clinical genetics which affords him a unique expertise to diagnose and manage patients with complex monogenic neurological disorders. 'His research focus is on multi-modal neuroimaging and neuromonitoring in inborn errors of metabolism. He is also involved in developing precision therapies for mitochondrial diseases through collaborative translational research with Drs. Chiaramello and Gropman as part of a Mito EpiGen Program at George Washington University. Dr. Sen has published several peer-reviewed articles and presented at many international conferences on newborn screening disorders, rare neurometabolic epilepsies and ethics in genetic testing. His accomplishments also include conducting a national survey identifying innovative ways to educate child neurologists regarding genomics and rare diseases. He is a fellow of the American College of Medical Genetics (ACMG) and a member of the ACMG Therapeutics Committee. He also serves as the USA Editor for the Journal of Pediatric Genetics.'
Pediatric Genetics
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- Pediatric Genetics
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Dr. Margaret Adam is a pediatric geneticist/dysmorphologist at the University of Washington/Seattle Children's Hospital and is Editor-in-Chief of GeneReviews.' She specializes in the diagnosis and management of dysmorphic syndromes.' She is actively involved in clinical research on Mowat-Wilson syndrome, Kabuki syndrome, and Differences of Sex Development.' In addition, her clinical interests include teratology, for which she serves as a dysmorphologist on several national/international clinical research studies on Fetal Alcohol Syndrome and the newer generation biologics used to treat maternal autoimmune diseases.
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