Speed Mentoring: Mentor List

Christina Marie Peroutka, MD, is a board-certified physician in pediatrics, clinical, general and medical biochemical genetics who specializes in helping infants, children and adults with genetic conditions. She has a particular interest and expertise in inborn errors of metabolism and newborn screening.
Peroutka received her medical degree from the Brody School of Medicine at East Carolina University in Greenville, North Carolina. She completed residency training in pediatrics and genetics at The Johns Hopkins Hospital in Baltimore, Maryland, and a fellowship in medical biochemical genetics at the National Institutes of Health (NIH) in Bethesda, Maryland.
During her residency and fellowship, Peroutka led an electronic medical record (EMR) study to identify patients who are at risk of having a rare metabolic bone condition called hypophosphatasia (HPP), subsequently evaluating at-risk individuals to offer a genetic evaluation, counseling, testing and treatment. She remains interested in research on and management of patients with HPP and follows a large number of patients from the region with this condition.
Peroutka enjoys working with clinical research participants to make new observations and discoveries that can help improve care for patients with rare conditions. She has been involved in bringing new molecular genetic testing methodologies to UVA, especially for patients in the critical care setting. She is the principal investigator at UVA for a number of studies including a drug trial to treat adolescents with phenylketonuria (PKU) and a protocol to help resolve uncertain or nondiagnostic testing for infants with congenital heart disease. She is also interested in medical education and inspiring the next generation of healthcare providers.
Peroutka is a member of the American Academy of Pediatrics, the American College of Medical Genetics and Genomics, and the American Medical Association. She serves as an appointee on the Virginia Rare Disease

Dr. Sharer is a clinical biochemical geneticist at UAB. He specializes in the laboratory diagnosis of inherited metabolic disorders via application of targeted metabolomics technologies. Dr. Sharer is the Director of the UAB Clinical Biochemical Genetics fellowship training program, Director of the Department of Genetics Research Division, and is President-elect of the Southeastern Regional Genetics Group (SERGG). He is also a former member of the ABMGG Board of Directors and the ACGME Medical Genetics Residency Review Committee.

Dr. Pasquali is a professor of Pathology at the University of Utah School of Medicine, and Medical Director of Biochemical Genetics and Newborn Screening at ARUP Laboratories. Dr. Pasquali earned her degrees of doctor in pharmaceutical chemistry and technology and pharmacy doctor at the University of Parma School of Pharmacy in Italy. She trained in clinical biochemical genetics at Emory University, in Atlanta, Georgia where later served as the co-director of the Biochemical Genetics Laboratory. Dr. Pasquali is board certified by the ABMGG in Clinical Biochemical Genetics. She is a member of the Society for Inherited Metabolic Disorders, the American College of Medical Genetics and Genomics, and several other professional societies. Her research interests are newborn screening, disorders of carnitine and creatine metabolism and transport, and lysosomal storage disorders.

Dr. Taraka Donti is the Director of Laboratory Services at Revvity Omics Inc. in Pittsburgh, Pennsylvania. Dr. Donti specializes in clinical laboratory operations, with expertise in quality management, regulatory compliance, and the implementation of advanced diagnostic technologies. Professional interests include improving laboratory efficiency, supporting high-quality patient care through accurate and timely testing, and advancing translational diagnostics from research into clinical practice. Dr. Donti has extensive experience in laboratory validation, assay implementation, and cross‑functional collaboration, and is committed to mentoring laboratory professionals and fostering a culture of excellence, innovation, and continuous improvement.

Dr. Ligon has been a Clinical Cytogeneticist at Brigham & Women’s Hospital (BWH) in Boston since 1999. Her clinical interests include the cytogenetics of primary CNS tumors and translation of research tools to clinical use. Beginning in 2003, Dr. Ligon served as the Program Director for the BWH Clinical Cytogenetics Fellowship and then later as the Associate Program Director for the BWH LGG Fellowship. She has served on ACMG Committees, on the ABMGG Board of Directors, and on the ACGME Review Committee for Medical Genetics and Genomics. In 2025 she assumed the role of CEO of the American Board of Medical Genetics and Genomics. 

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

Anne O’Donnell-Luris is a pediatric clinical genetic and biochemical genetic physician-scientist at Boston Children’s Hospital and the Broad Institute. Dr. O’Donnell-Luria specializes in the clinical management of chromatin disorders. She leads a research laboratory that focuses on genomics and other omics approaches to increase rare disease diagnosis through improved variant classification and interpretation and the discovery of novel gene-disease relationships. She also studies the mechanisms of incomplete penetrance. She is involved in several consortia projects, including GREGoR, gnomAD, ClinGen (Computational Working Group and Syndromic Disorder Gene Curation Expert Panel co-chair), NeuroDev, and Chromatin Clinics consortia. She has a particular interest in advising clinicians and scientists on career development in human and clinical genetics.

Dr. Slavotinek is certified in Clinical Genetics and worked as a Medical Geneticist at the University of California, San Francisco, from 2002 until 2022 prior to moving to Cincinnati Children’s Hospital Medical Center as Division Director for Human Genetics. She specializes in rare diseases, dysmorphology and clinical genomics. Dr. Slavotinek received her medical degree from the University of Adelaide and her Ph.D from Flinders University whilst studying in Edinburgh at the MRC Human Genetics Unit in the United Kingdom. She trained in Clinical Genetics in Oxford and Manchester in the United Kingdom and then did a postdoctoral Fellowship and a Genetics Fellowship at the National Institutes of Health. She has held leadership positions for the American College of Medical Genetics and the American Board of Medical Genetics and Genomics. Dr. Slavotinek is a Co-Editor in Chief for the American Journal of Medical Genetics and an author on more than 280 peer-reviewed publications. She was a Principal Investigator for the UCSF site of the Clinical Sequencing Evidence Generating Research (CSER) consortium. She also directs an NIH-funded laboratory that uses next-generation sequencing technologies and animal models to study the etiology of developmental eye defects and multiple congenital anomaly syndromes.

Dr. Aslihan Dincer is a board-certified clinical molecular geneticist and is the Associate Clinical Laboratory Director of Women’s Health at Natera. She oversees laboratory escalations across clinical genomic operations with a focus on carrier screening, variant curation/interpretation, and data review. Dr. Dincer earned her doctorate in Genetics and Genomics from the Icahn School of Medicine at Mount Sinai and completed her clinical training in cytogenetics and molecular genetics at the same institution. Prior to joining Natera, she held a junior faculty appointment at Mount Sinai. Dr. Dincer’s clinical and research interests include advancing NGS-based diagnostics (WES/WGS), carrier screening, and cell-free DNA–based noninvasive prenatal testing with the overarching goal of utilizing these cutting-edge molecular technologies to provide accurate, efficient, equitable genetic testing and high-quality care.

dr. Ortiz is currently a Clinical Geneticist at UPMC Children’s Hospital of where we manage a variety of complex and rare metabolic conditions and are involved in cutting-edge research and transplantation to improve the lives of patients and their families.  I am also currently the director of our large lysosomal storage disorder program and have been so for the past 9 years.  I am the principal investigator for several lysosomal storage disorder clinical trials and registries.  I served as the associate program director of the Clinical Genetics and Genomics residency program for 3 years and am now the program director and recently established our Combined Pediatrics/Medical Genetics and Genomics residency program.  I have served in a teaching and supervision role since my medical genetics residency at the Icahn School of Medicine at Mount Sinai, where I was the Chief Resident.  I also lecture regularly for the categorical pediatric residents, as well as the NICU and PICU fellows and created a didactic and board-review curriculum for our trainees (Clinical Genetics and Genomics, Clinical Biochemical, Laboratory Genetics and Genomics).  I am also involved in our Genetic Counselor Training program, where I serve as Medical Director, serve on thesis committees and lecture. 

Danny Miller is an Assistant Professor in the Department of Pediatrics, Division of Genetic Medicine, and the Department of Laboratory Medicine and Pathology at the University of Washington and Seattle Children’s Hospital in Seattle, Washington. His laboratory uses new technologies, such as long-read DNA and RNA sequencing, to identify missing disease-causing genetic variation and to better understand biological processes associated with human disease. His lab is working to develop long-read sequencing-based clinical genetic tests with a goal of increasing the rate of genetic diagnoses, reducing the amount of time required to make a genetic diagnosis, and lowering barriers to obtaining comprehensive clinical testing. Clinically, he cares for patients in both general genetics and skeletal dysplasia clinics. More information can be found on his lab website at www.millerlaboratory.com.

Dr. Flannery is a practicing M.D. Geneticist and Director of Telegenetics and Digital Genetics at Cleveland Clinic, where his team is creating the digital future of genetic services using synchronous telemedicine, eConsults and chatbots. From February 2014 to May 2018 he served as Medical Director of the American College of Medical Genetics and Genomics and also served as Medical Director of the NICHD funded Newborn Screening Translational Research Network and was Medical Director of the HRSA funded National Coordinating Center for Regional Genetic Services Networks, and served on its Telegenetics Workgroup. Prior to ACMG he was at the Medical College of Georgia (now Augusta University) where he served in a succession of clinical, academic and medical staff leadership positions. He has been a grant reviewer for NIH, NHGRI, FDA, U.S. Army, professional organizations, and state commissions. Dr. Flannery is known as a pioneer in telemedicine.  At MCG he started telemedicine genetics clinics in 1995, which are considered to have been the longest continually running telegenetics services in the nation. He has served on the boards of directors of multiple telehealth entities. He publishes extensively and is a frequent presenter at national meetings. He has served on national committees/workgroups including the Telehealth Committee of the National Quality Forum and the Digital Medicine Payment Advisory Group for the American Medical Association, and currently serves on the Telemedicine Workgroup for the National Organization for Rare Disease Centers of Excellence and  the Medicare Evidence Development and Coverage .Advisory Committee for CMS. He is an expert in coding and serves on the AMA’s CPT Advisory Committee and the External Advisory Board for the American Hospital Association’s Coding Clinic.

Dr. Joachim Kapalanga, MD, MSc, PhD, FAAP, FACMG, DABMG, DABP, is an internationally recognized physician-scientist and academic leader in pediatrics and medical genetics. He is a Professor of Pediatrics at the Schulich School of Medicine and Dentistry and a member of the South Western Ontario Academic Health Network – Knowledge Translation Group. He also serves on faculty at McMaster University and as a Visiting Professor at Gulu University. His academic leadership spans several prominent institutions. He previously served as Associate Professor and Head of the Division of Medical Genetics at Upstate Medical University/SUNY, and held faculty appointments at Yale University, SUNY, Dalhousie University, and the PEI University and Health Research Institute.

Dr. Kapalanga’s research focuses on the epigenetics of neurodevelopmental disorders and on neurobehavioral genetics and genomics. Through his scholarly work, leadership in genetics programs, and commitment to translational research, he has made significant contributions to advancing understanding of complex developmental conditions and strengthening academic medicine both in North America and internationally.

Board-certified in both Medical Genetics and Pediatrics, Dr. Kapalanga is a Fellow of the American College of Medical Genetics and the American Academy of Pediatrics, a Diplomate of the American Board of Medical Genetics and the American Board of Pediatrics, and an Associate Fellow of the Canadian College of Medical Genetics. He is an active member of numerous national and international professional and scientific organizations. Educated at Yale University, the State University of New York (SUNY), Queen’s University, McMaster University, and the University of Guelph, he has built a distinguished career integrating clinical excellence, research innovation, and academic leadership.

Dr. Berg is a clinical geneticist and physician scientist at the University of North Carolina at Chapel Hill.  He was active in clinical care in the area of cancer and adult genetics for 15 years and has now transitioned to broader roles at UNC, leading the Program for Precision Medicine in Health Care and recently taking a position within the UNC Health System where he will contribute to system-wide quality improvement and care redesign efforts related to genomic medicine.

Dr. Berg’s research efforts have centered on the application of genomic sequencing technologies in patient care, starting with early forays into exome/genome sequencing and delineating criteria for clinically actionable secondary findings. He has worked in the area of genomic population screening of unselected neonates and adults for over a decade, and now has an active research effort to explore the application of targeted genomic screening for rare monogenic conditions throughout childhood. This model, called Age-Based Genomic Screening (ABGS), is proposed as a way to connect genomic screening across the lifespan from neonates to infants, children, adolescents, and adults. Dr. Berg’s work in genomic screening includes developing metrics for measuring the performance of sequencing as a screening test (which is quite different than the diagnostic setting for patients with rare disease). Dr. Berg is also one of the founding Principal Investigators of the Clinical Genome Resource (“ClinGen”) in which his team has played a major role in developing methods for curating and defining gene-disease relationships and variant pathogenicity. In his role at UNC, Dr. Berg leads an effort to deploy genomic technology within the affiliated health system, including the Epic Genomics Module, interfaced genetic tests and structured results, and associated decision support tools. He is actively involved in developing virtual care programs such as genomic medicine eConsults; disseminating genetic testing capabilities; improving the identification, diagnosis and management of patients with rare and monogenic conditions across all disease areas; and ensuring that genomic and precision medicine approaches are accessible to patients throughout the state-wide footprint of the UNC Health System.

Dr. Schimmenti is a clinical geneticist at the Mayo Clinic.  Her practice primarily covers patients with conditions with hearing and vision issues, but she also covers a broad range of patients including inborn errors of metabolism and cancer. Her research laboratory focuses on the genetics of hearing and vision.  Her current focus in on a zebrafish model of Cockayne Syndrome (PMID: 41527836).  Dr. Schimmenti is also the co-Director of the Mayo Clinic Medical Scientist Training Program (MD-PhD).

Dr. Robin is a medical geneticist at University of Alabama at Birmingham and Children’s of Alabama. He is a general geneticist with a focus on craniofacial genetics. He oversees clinical genetics for UAB Health System, leading a team of 7 medical geneticists, 25 genetic counselors, and 8 residents. He was the residency program director for 20 years. He is currently a member of the American Board of Medical Genetics and Genomics.

Salman Kirmani is a Consultant Medical Geneticist and Pediatric Endocrinologist at the Aga Khan University, with a primary focus on rare diseases, neurogenetics, and precision genomics in under-represented populations. His work centers on the diagnosis and management of consanguinity-driven genetic disorders, development of genomic medicine programs in low- and middle-income countries, and integration of genetics into clinical care for children with neurodevelopmental and neuromuscular disorders. He previously spent 13 years at the Mayo Clinic in Rochester, Minnesota, and is board certified in Medical Genetics and Pediatrics in the United States.

Dr. Kang is dual boarded in Cytogenetics and Molecular Genetics and Genomics and is licensed in the State of California. She has experience in both academic and hospital-based laboratories with large test menus including G-banded karyotyping, FISH, chromosomal microarray, Sanger sequencing, fragment analysis, DNA and RNA-based NGS panels, and clinical exome sequencing, and has expertise on a broad spectrum of specimen types spanning prenatal, postnatal constitutional, hematologic malignancies, and solid tumors.  Dr. Kang also contributes to education at various levels from technologist training as the Director of the Clinical Cytogeneticist Scientist (CCS) Training Program at UCLA to laboratory fellow training as core faculty and mentor in the UCLA ABMGG Laboratory Genetics and Genomics (LGG) Fellowship Training Program. She guest lectures in courses for the UCLA Masters in Genetic Counseling Program and the Department of Pathology, as well as participates in national and international workgroups dedicated to developing resources and technical standards for clinical laboratories. 

Dr. Ying Zou is a Director of Genomic Laboratory at Johns Hopkins Hospital, Director of ACGME-accredited Laboratory Genetic and Genomics program, and Associate Director of Molecular Laboratory at Johns Hopkins University. Her clinical expertise includes the diagnosis of genetic abnormalities in cancers and genetic diseases. Dr. Zou is an expert in clinical laboratory genetics. She is actively adopting novel techniques into genetics tests in the clinical setting for better patient care, personalized medicine, as well as for discovering disease variants and novel cancer biomarkers. She is a committee member of clinical trials and professional societies, editor/board member for professorial journals, and has published more than 130 peer-reviewed journal articles.  

Dr. Kathleen Valverde is an Assistant Professor in Translational Medicine and Human Genetics at the Perelman School of Medicine at the University of Pennsylvania. She is the principal investigator for two major Warren Alpert Foundation initiatives—the Alliance for Genetic Counseling Fellowship and the Career Ladder Educational Program—totaling nearly $20 million to support scholarship, training, and research advancement in genetic counseling.

A leader in the field for three decades, Dr. Valverde has directed the UPenn/Arcadia genetic counseling program since 2004 and has helped train nearly 400 genetic counselors. She previously held key roles at Sarah Lawrence College and received Arcadia University’s Professor of the Year award in 2018. Her research focuses on hereditary cancer risk, BRCA family experiences, genetic risk communication, and resiliency in mitochondrial disease—and is informed by her own BRCA‑positive family history.

Dr. Valverde has held national leadership roles, including with the Accreditation Council for Genetic Counseling as its founding treasurer and the Association of Genetic Counseling Program Directors, and chaired Pennsylvania’s licensure committee, helping secure the state’s licensure law in 2012. In recognition of her 25 years of service, Arcadia established the Kathleen D. Valverde Scholarship to support undergraduate research.

Shoumita Dasgupta, Ph.D., is a scientist educator, a Professor of Medicine, and an Assistant Dean of Diversity & Inclusion, working with MD and PhD students in the diverse and inclusive higher education environment of Boston University. Her passion for genetics, genomic medicine, diversity and inclusion, and mentoring serve as the foundation for her supportive and creative leadership in the field. Dr. Dasgupta is a US Department of State Fulbright Specialist, a member of the inaugural cohort of faculty affiliates at the Ibram X. Kendi Center for Antiracism Research, and Past President of the Association of Professors of Human and Medical Genetics. In addition, she works with the National Academies of Science, Engineering, and Medicine, the National Human Genome Research Institute, the American College of Medical Genetics and Genomics, the American Society of Human Genetics, and others to promote initiatives in education, diversity, equity, inclusion, and justice. Dr. Dasgupta is the author of Where Biology Ends and Bias Begins: Lessons on Belonging from Our DNA, published by the University of California Press.

Dr. Yvonne Bombard is Professor and Canada Research Chair in Genomics Health Services at the University of Toronto and Unity Health Toronto. She directs the Genomics Health Services Research Program at St. Michael's Hospital. She also serves as coFounder and CEO of Genetics Adviser. Her work evaluates the outcomes of genomic technologies on patients and healthcare systems, develops digital tools for genomic medicine, and engages patients in health technology assessment. Dr. Bombard is actively involved in international policy advisory committees and serves on the boards of the American Society of Human Genetics and CIHR Institute of Genetics. She has received numerous awards, including a CIHR Foundation grant, 'Rising Star' and Presidential awards from CADTH, CIHR, UofT and the Canadian Cancer Society for her impactful research and policy contributions, for which she has been inducted into the Royal Society of Canada's College of New Scholars and the Canadian Academy of Health Sciences.

Dr. Wechsler is an expert in cardiovascular genetics.   She is faculty member in Pediatric Cardiology and Medical Genetics at Children’s Healthcare of Atlanta and Emory School of Medicine in Atlanta, GA.  Her clinical and research interests are in cardiovascular genetics, particularly in genetic causes of congenital heart disease and genetic conditions that affect the heart and/or include a cardiac phenotype.  Early in her career, she was the recipient of a K08 award that funded basic research in cardiac development.  She then transitioned to clinical research in cardiac genetics, participating in multicenter clinical trials including the NIH-sponsored Pediatric Heart Network Marfan Trial, the Cytogenomics of Cardiovascular Malformations Consortium as well as industry-sponsored trials in Duchenne Muscular Dystrophy.  Dr. Wechsler also has expertise in medical education, serving as the Fellowship Program Director for Pediatric Cardiology at Duke University School of Medicine from 1998-2017, and most recently as the Medical Director for the Emory School of Medicine Genetic Counseling Training Program from 2019-2022.

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Kristen is a genetic counselor who sees inpatients at multiple ICUs (NICU, CCU, PICU, Floor) across Omaha and patients in the Differences of Sexual Development Clinic at Children's Nebraska in tandem with geneticists. She was the founding genetic counselor for these clinical roles at her institution and has worked to expand access to rapid genomic testing across multiple hospital systems throughout Omaha. Her research has focused on exploring the role of an inpatient genetic counselor, expanding access to genomic testing in the ICU for critically ill patients, and exploring parental decision making about pursuing amnioinfusions when their fetus has renal anomalies. She was also involved in creating clinical surveillance guidelines for patients with Trisomy 13/Trisomy 18. Kristen is the Capstone Director for the Genetic Counseling Program at the University of Nebraska Medical Center.

Dr. Maria Guillen Sacoto is the Scientific Director of Research and Innovation at GeneDx, a commercial molecular testing laboratory specializing in genetic testing for rare diseases. Dr. Guillen Sacoto is an IMG physician with training in Internal Medicine and dual boards in Clinical Genetics and Molecular Genetics. Her research interests center around understanding gene-disease associations, translating genomic data into clinical outcomes, and leveraging cutting edge Machine Learning and other AI tools to bring more diagnosis to patients with rare diease. Her work has resulted in over 50 peer-reviewed publications in the past decade. 

Dr. Rehder directs the cytogenetics and molecular diagnostics laboratories of the Duke University Health System. She currently serves on the COG Cytogenetics Committee and the editorial board of Genetics in Medicine, and co-chairs the ClinGen Lysosomal Diseases Expert Panel. Previously, she has served on the ACMG Laboratory Quality Assurance committee, including a term as committee chair; the ACMG board of directors, including a term as Treasurer; and the CAP/ACMG Cytogenetics Committee, including a term as Vice-Chair. In addition to her roles as laboratory director, lecturer, and active participant on several intramural and extramural committees, Dr. Rehder is an author on >80 peer-reviewed publications, review articles, and laboratory guidelines on a wide variety of cytogenetics and molecular genetics topics. Her primary areas of interest and publication include the reporting practices of genomic testing, Pompe disease and other glycogen storage diseases, as well as newborn screening and sequence variant interpretation.

Dr. Yang is a Clinical Instructor at Stanford University and an ABMGG (LGG) certified clinical lab geneticist at the Stanford Healthcare Molecular Genomics Pathology and Cytogenetic Labs, where her work focuses on the interpretation of complex diagnostic tests for diagnosis of cancer and constitutional genetic conditions. Dr. Yang has an interest in data-driven approaches to optimize laboratory operations and development of tools for integration of multiomics data with the goal of improving precision oncology strategies.

Dr. Wheeler is an ABMGG board-certified cytogeneticist and molecular geneticist with more than 14 years of experience working as a laboratory director in Clinical Cytogenetics, Molecular Diagnostics and Genomics. Dr. Wheeler started her career at Vanderbilt University Medical Center as Medical Director of Cytogenetics, with additional roles in the Molecular Diagnostics and Clinical Genomics Laboratories. She has extensive experience in all aspects of cytogenetics and genomics diagnostic testing, including clinical case review and sign out, test development/validation, and laboratory management. Dr. Wheeler has also been involved in teaching and training of undergraduates, medical students, graduate students, residents, and ABMGG fellows in both classroom and laboratory settings. In her current position, she is responsible for clinical test validation, and reporting of test results as well as oversight of the continuing education program.

Dr. Madhuri Hegde, FACMG, is the SVP and Chief Scientific Officer of Revvity, responsible for setting the strategic scientific direction of the Company. As both a medical geneticist and American Board of Medical Genetics and Genomics (ABMGG) certified diplomat in clinical molecular genetics, Madhuri is also the head of Revvity Omics and its global network of laboratories offering innovative, omics-based services in more than 155 countries worldwide.
Madhuri is a passionate and perpetually curious leader whose team is committed to delivering cutting-edge products to Revvity customers, while keeping a close eye on innovation and bringing those developments to market. Madhuri is energized by bringing people and teams together to make a difference and harness science to positively impact human health.
Making the switch from academia to industry in 2016, Madhuri joined Revvity from Emory University in Atlanta, where she served as Executive Director of the Emory Genetics Laboratory and as a professor of human genetics and pediatrics. Before that, she spent several years at the Baylor College of Medicine where she was faculty in the Department of Human Genetics and Director at Baylor Medical Laboratories. She also served several years as a laboratory director at Auckland City Hospital in New Zealand.
Madhuri currently serves on the board and is an officer of the American College of Medical Genetics and Genomics Foundation (ACMGF) and leads the ACMG’s International Outreach and Engagement Committee. She is also a member of the ABMGG Board of Directors, serves on Coriell Cell Repositories NIGMS Human Genetic Cell Repository Scientific Advisory Committee, co-chairs ClinGen’s PTEN committee and is a member of the NHGRI ClinGen Hereditary Cancer Executive Committee. She is an adjunct professor of Pediatrics at Emory University School of Medicine and at Georgia Institute of Technology; has either authored or co-authored over 150 peer-reviewed publications and eight book chapters; and presented well over 100 keynote and other invited presentations at major national and international conferences.
Exposed to science and the field of genetics at an early age, Madhuri’s decision to pursue a career in this field was heavily influenced by academics and other scientists in her family. She was born and raised in India and earned her bachelor’s and master’s degrees in microbiology at the University of Mumbai. Madhuri also holds a PhD in applied biology and genetics from the University of Auckland and completed her postdoctoral studies and ABMGG certification at Baylor College of Medicine.

Dr. Hambuch is currently the VP of Laboratory Medical and Pathology at Exact Sciences.  Her focus is on the integration and innovation of molecular test offerings across five laboratories and multiple tests. She entered the field of medical genetics in 2006, just as new technologies were beginning to transform the efficiency, sensitivity and accessibility of genetic testing. She spent two years at Ambry Genetics designing, validating and launching Sanger-based tests and then was recruited by Illumina, where she led a team that launched a CLIA certified, CAP accredited laboratory offering NGS based whole genome sequencing in 2009. In 2016, she joined Invitae, where she held the CLIA license for the San Francisco lab, directed the integration and launch of additional laboratories, and was a critical contributor to the 510k approval for a heritable cancer panel. Tina went to Quest in 2022, and then moved to Exact Sciences in 2024. Tina earned a BS in biology at UC Riverside, a PhD in population genetics at UC Berkeley, was a post doctoral fellow at the Centers for Disease Control, and an assistant professor at LMU in Munich, Germany. She is ABMGG board certified in clinical molecular genetics, and her medical genetics fellowship was at UCLA. She has served on numerous advisory and best practice committees, including ACMG, AMP, FDA, CLIAC, and Genome Canada and has over 35 publications in the field.

Dr. Yu Leng Phua is a clinical laboratory director at Natera, Inc., and is triple board-certified by the American Board of Medical Genetics and Genomics in Clinical Biochemical Genetics and Laboratory Genetics and Genomics (Molecular and Cytogenetics). Dr. Phua has extensive expertise in biochemical genetics testing for metabolic diagnosis and women’s health genetic testing, including noninvasive prenatal testing (NIPT), carrier screening, hereditary cancer testing, and products of conception testing. These advanced testing solutions empower clinicians and patients with actionable insights, supporting informed decision-making across genetic diagnosis and the full women’s health journey—from family planning and prenatal care to hereditary cancer risk assessment.

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.

Dr. Akanchha Kesari is a board‑certified Clinical Molecular Geneticist and Laboratory Geneticist and Genomicist (LGG) accredited by the American Board of Medical Genetics and Genomics (ABMGG), with more than 20 years of experience in genomics and over 16 years in clinical laboratory leadership. She currently oversees and holds CAP/CLIA and NYS Department of Health licensure for whole‑genome‑sequencing–based diagnostic testing for rare Mendelian disorders and cardiovascular conditions at the Illumina Clinical Services Laboratory in San Diego, CA. She also provides clinical oversight for Illumina’s NIPT services in the Foster City, CA laboratory. Dr. Kesari has served in this role for the past five years.

Before joining Illumina, Dr. Kesari was the Clinical Laboratory Director for Global Laboratory Services at PerkinElmer Genomics. Prior to that, she served as Assistant Professor of Human Genetics at Emory University and Director of the Molecular Genetics Laboratory at the Emory Genetics Laboratory.

Dr. Kesari holds Clinical Laboratory Director licenses from the Departments of Health in New York, California, and Florida. She is an active member of multiple professional organizations, including the American College of Medical Genetics and Genomics (ACMG) and the American Society for Clinical Pathology (ASCP). She also serves as an expert contributor to several ClinVar working groups.

A specialist in next‑generation sequencing (NGS) for the diagnosis of human genetic disorders, Dr. Kesari has authored more than 50 peer‑reviewed publications in leading journals such as the American Journal of Medical Genetics, American Journal of Human Genetics, and Annals of Neurology. Prior to her work in clinical diagnostic laboratories, she spent extensive time in research at Children’s National Medical Center and the National Institutes of Health, where she completed her ABMGG fellowship.

Dr. Avinash V. Dharmadhikari is board certified in Laboratory Genetics and Genomics (LGG) by the American Board of Medical Genetics and Genomics (ABMGG) and serves as Assistant Director in the Center for Personalized Medicine at Children’s Hospital Los Angeles. He specializes in the interpretation of complex molecular and cytogenomic data. His research focuses on identifying clinically relevant structural and molecular variants underlying genetically heterogeneous neurodevelopmental disorders and on advancing the use of next-generation sequencing technologies to detect genetic causes of disorders of somatic mosaicism.

Dr. Dharmadhikari is a member of the ClinGen Intellectual Disability/Autism Spectrum Disorder and Prenatal Gene Curation Expert Panels (GCEPs), and the American Society of Human Genetics (ASHG) Digital Learning Committee. He serves on the editorial boards of the Journal of Molecular Diagnostics and BMC Medical Genomics. He co-chairs the ACMG/Cancer Genomics Consortium (CGC) working group on vascular anomalies and somatic overgrowth, the ClinGen GCEP on somatic mosaicism of vascular anomalies, and the CGC Early Career Initiative Committee.

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.

Eric Bend, PhD, FACMG is a clinical molecular geneticist, currently serving as Director of Clinical Curation and Reporting at PreventionGenetics, part of Exact Sciences.

Dr. Bend earned a PhD in Neuroscience from the University of Utah and completed his molecular fellowship training at Greenwood Genetic Center. Eric’s clinical and scientific interests include neurodevelopmental disorders, epilepsy, whole exome and whole genome sequencing.

At PreventionGenetics, Dr. Bend oversees the clinical curation and sign-out teams. Eric is excited about maximizing operational quality and efficiencies, while cultivating an engaged mission-focused team.

Jill is a licensed and certified genetic counselor who currently serves as the Principal Medical Writer at Labcorp. Jill has 18 years of diverse experience in the field of genetics/genomics. She started her career in clinical medicine as a prenatal genetic counselor in a high-volume MFM office. After 8 years, she joined Sequenom/Labcorp and worked as a Medical Science Liaison in Women’s Health and Genetics for five years. She then took a professional detour and worked as the Director of Scientific Communications at PetDx, a veterinary biotech startup offering next-generation sequencing-based liquid biopsy for cancer detection in dogs. Following this endeavor, in 2024, she returned to Labcorp, where she currently serves as the Principal Medical Writer, reporting to the Chief Scientific Officer. Jill is also an adjunct professor for the Kean University Genetic Counseling Graduate School Program. Over the past decade, Jill has contributed to over 60 abstracts that were delivered as posters and/or oral presentations at scientific conferences, and has authored/co-authored 17 peer-reviewed publications in scientific journals, including a first author publication that was selected as an Editor’s Featured Article in Genetics in Medicine, and a first author publication in PLOS One that became the subject of a variety of syndicated articles appearing in Newsweek and Scientific American, among others.

Dr. Meng-Chang Hsiao is an Assistant Professor and Associate Medical Director of Cytogenetics and Molecular Diagnostics at Vanderbilt University Medical Center, where he specializes in the diagnostic evaluation of germline disorders, solid tumors, and hematological malignancies. As a board-certified laboratory geneticist, Dr. Hsiao bridges the gap between complex genomic research and clinical application, focusing on elucidating disease mechanisms to develop pioneering diagnostic techniques. His work is dedicated to advancing the field of medical genetics by translating cutting-edge scientific discoveries into actionable insights that enhance patient care and the long-term management of genetic disorders.

Dr. Spinner is a Professor of Pathology and Laboratory Medicine at The University of Pennsylvania School of Medicine and (Founding) Chief, of the Division of Genomic Diagnostics at The Children’s Hospital of Philadelphia. She is Board Certified in Clinical Cytogenetics and PhD Medical Genetics, and her practice has focused on clinical, educational and research aspects of Medical Genetics. She is a past Director of the Fellowship Program at CHOP in Cytogenetics and the first Director when it transitioned from separate Cytogenetics and Molecular Training to the Laboratory Genetics and Genomics model currently in place. She has broad research interests in the evolution of genomic testing, and her research is focused on the genetics and diagnosis of rare pediatric disorders, specifically on the genomics of Alagille syndrome, biliary atresia, ring chromosomes, and the utilization of rapid testing in the NICU.  Her work focuses on improving diagnostics and understanding and reducing uncertainty. She has served on multiple National Committees including the Board of Directors of the American Society of Human Genetics and currently chairs the American College of Medical Genetics Economics of Genetic Services Committee.

 Robert Pyatt is a clinical scientist, educator, and researcher, and currently serves as a laboratory director in Women’s Health and Genetics with Laboratory Corporation of America (LabCorp).  Dr. Pyatt is an award-winning educator who has previously held academic positions at Ohio State University, the University of South Dakota, and Kean University. His passion for education extends beyond the formal classroom including organizing science pubs and science festivals, and serving as a science communicator at events like the Edinburgh International Science Festival in Scotland. Dr. Pyatt’s research, which is focused on understanding the role of genetics in disease and the development of clinical genetic tests, has been featured in articles online at Forbes and Discover Magazine. 

Dr. Cheng is a laboratory geneticist at the Mayo Clinic Florida. Dr. Cheng’s practice focuses on clinical molecular genetics and cytogenetics in sporadic cancers. He has an extensive track record in developing and implementing molecular assays for disease diagnosis and prognosis. His research and clinical interests focus on integrating molecular and cytogenomic technologies to establish highly accurate, cost-effective workflows that address the needs of patient care. Prior to joining Mayo Clinic, Dr. Cheng held positions at Cleveland Clinic for over 12 years.

Dr. Chandra is a neurogeneticist, currently an Assistant Professor with the Division of Medical Genetics and Genomics at the University of Iowa. He is an adult neurologist, internist, and a medical geneticist, with the expertise to study the natural history of complex neurogenetic and rare diseases. His research focus is on understanding complex and ultra-rare disorders using deep phenotyping, multiomics, stem cells and organoid-based disease modeling. He is the director of the Iowa Undiagnosed Diseases Program, which leverages a hybrid clinical and research-based model to care for individuals with undiagnosed rare and complex diseases across their lifespan.