Ashley Birch, PhD, FACMG, FCCMG
Director of Variant Science
GeneDx
Variant Interpretation

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.

Babi Ramesh Reddy Nallamilli, PhD, FACMG Laboratory Director and Lead R&D Director Revvity Omics 
Clinical Molecular Genetics

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.

Elizabeth S. Barrie, PhD, FACMG
Associate Director of Molecular Diagnostics and Cytogenetics
Assistant Professor of Pathology
Virginia Commonwealth University Health System

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.

Rachel Burnside, PhD, MBA, FACMG
Clinical Professor and Section Director, Cytogenetics
University of Florida

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.

Daniah Beleford, MD, PhD, FACMG
Assistant Professor
University of California, Davis
Vascular Malformations, X and Y Chromosomal Aneuploidy, Adult Genetics

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.

Suma P. Shankar MD, PhD
Professor, Departments of Pediatrics & Ophthalmology
Chief, Division of Genomic Medicine
Albert Holmes Rowe Endowed Chair of Genetics II
University of California Davis Health, MIND Institute

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.

Andrea Gropman, M.D., FAAP, FACMG, FANA, FAAN, FCNS
Mark F. Tamer Endowed Chair in Pediatric Neurology
Director, Neurometabolic Translational Research
Center for Experimental Neurotherapeutics
St. Jude Children’s Research Hospital

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.

Pengfei Liu, PhD
Department of Molecular and Human Genetics
CLIA Lab Director of the Medical Genetics and Multiomics Laboratory 
Director, ACGME/ABMGG Laboratory Genetics and Genomics (LGG) Fellowship Program
Baylor College of Medicine

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.

Henry J. Mroczkowski, MD, PhD, FACMG
Associate Professor
College of Medicine - Memphis
Department of Pediatrics
Division of Peds 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

Chad Haldeman-Englert, MD, FACMG
Medical Director
Cone Health Precision Health
Medical Genetics, Precision Health 

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.

Rong Mao, MD, FACMG
Professor of Pathology/Medical Director of Molecular Genetics and Genomics
University of Utah/ARUP Laboratories
Genetics testing for inherited diseases, genomics sequencing

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.

Rachel Burnside, PhD, MBA, FACMG
Clinical Professor and Section Director, Cytogenetics
University of Florida

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.

Austin Larson, MD
Associate Professor
University of Colorado School of Medicine

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. 

Gokce A. Toruner, MD, PhD, FACMG
Professor
MD Anderson Cancer Center

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.

Alexandre Bolze, PhD
Principal Scientist
Helix Inc.
Research in Human Genetics, Precision Medicine

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.   

Christine Preston, PhD
Senior Biocuration Scientist and Product Manager, ClinGen
Department of Biomedical Data Science, Stanford University

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

Henry J. Mroczkowski, MD, PhD, FACMG
Associate Professor
College of Medicine - Memphis
Department of Pediatrics
Division of Peds 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.

Bryce Mendelsohn MD, PhD
Senior Physician
Kaiser Permanente, Oakland Medical Center
Clinical and Biochemical Genetics

Dr. Mendelsohn is a geneticist at Kaiser Permanente in Oakland, California, a large, integrated health plan serving 4.5 million members. He serves as the Medical Director for Kaiser's Metabolic Clinic, Newborn Screening, and Carrier/Prenatal Screening programs, as well as regular duties as a clinical geneticist seeing children and adults. He also serves as a physician lead on pharmacogenetics and pharmacy taskforces. He describes his scope of work as "everything genetic except cancer" and his passion is reproductive population screening from preconception to the newborn. Prior to this role he was on the clinical faculty at UCSF and did bench research studying mitochondrial metabolism. 

Cytogenetics
Molecular Genetics

Jun Liao, Ph.D., FACMG
Laboratory director, associate professor 
Department of Pathology and Cell Biology
Columbia University Irving Medical Center

Dr. Liaois 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.

Marina DiStefano, PhD, FACMG
Director of Clinical Genomic Operations
Broad Clinical Labs, The Broad Institute of MIT and Harvard
Clinical molecular genetics, rare disease

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. 

Editor-in-Chief, GeneReviews
Professor of Pediatrics
Division of Genetic Medicine
University of Washington

Dallas Reed, MD, FACMG, FACOG
Division Chief, Genetics; Director of Perinatal Genetics; Obstetrician/Gynecologist; Tufts Medical Center
Associate Professor, Obstetrics/Gynecology, Medicine, and Pediatrics; Tufts University School of Medicine
Medical Genetics and Obstetrics/Gynecology

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.

Marzia Pasquali, PhD, FACMG
Professor of Pathology, University of Utah School of Medicine
Medical Director, Biochemical Genetics and Newborn Screening, ARUP Laboratories

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.

Preti Jain, PhD, FACMG
GeneDx
Molecular and Cytogenetics

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.

Ruth Baxter, PhD, FACMG, CGMBS
Senior Laboratory Director
Clinical Validations

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.

Wanqiong Qiao PhD, FACMG
Clinical Assistant Professor-Pathology, Co-Director of Stanford Clinical Genomics Laboratory
Stanford University

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. 

Mugdha Devalkar, CGC
Genetic Counselor
Nancy N. and JC Lewis Cancer & Research Pavilion 
Oncology/Pediatric

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.

Kelly Jones, MD
Associate Professor

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. 

Natascia Anastasio, MSc, MDCM, FCCMG, FRCPC
Chief of Service, 
Medical Geneticist, Adjunct Professor
Sherbrooke University, Quebec

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.