Liming Bao, MD, PhD, Associate Professor
A new mouse cytogenetics core was established to support researchers at Cincinnati Children's and UC for studies of mouse disease models and stem cells.
T. Andrew Burrow, MD, Assistant Professor
Dr. Burrow together with Dr. Barbara Hallinan in Neurology has expanded the neurometabolic clinic to include services by physicians from the division of Physical Medicine and Rehabilitation, allowing for enhanced, comprehensive care of children with neurometabolic conditions. Similarly, in collaboration with Dr. Kara Shah in Dermatology, he has successfully initiated the combined genodermatosis clinic for care of individuals with genetic conditions affecting the skin.
Mehdi Keddache, PhD, Assistant Professor
As the leader of the Genetic Variation and Gene Discovery Core, Dr. Keddache together with colleagues in Bioinformatics and Rheumatology, has implemented RNA-Seq data generation and a time saving analysis pipeline, as a part of the standard service. In addition, he has implemented sustainable, cost- effective next generation sequencing services for clinical and research projects.
Nancy Doan Leslie, MD, Professor
Dr. Leslie actively participates in The Inborn Errors of Metabolism Collaborative, an NIH funded national demonstration project. The goal of this registry is to track long term outcomes in individuals with disorders detectable by newborn screening. This registry has over 800 individuals enrolled, and represents 22 distinct disorders detectable by newborn screening.
In addition, she was appointed to a national expert panel, organized by HRSA, charged with the development of epidemiologically solid case definitions for all of the disorders detectable by newborn screening. These definitions will be important for future validation of screening algorithms and evaluation of outcomes of intervention after detection by newborn screening.
Lisa Martin, PhD, Associate Professor
Dr. Lisa J. Martin was appointed co-Director of the Cincinnati Genomic Control Cohort. The directorship of this unique resource is charged with advancing Cincinnati Children's capacity to perform genetic studies by providing a population representative sample from the community.
Melanie Myers, PhD, MS, CGC, Associate Professor & Carrie Atzinger, MS, Assistant Professor: Genetic Counseling Program (GCP):
The GCP celebrated a weekend of events to mark the 30th Anniversary of the Cincinnati GCP, resulting in a commitment of $18,000 for the GCP while fostering alumni relations.
Ms. Atzinger was key to a new online cardiovascular genetics course and updating two existing Teratology and Clinical Embryology courses increasing user participation from 40 users to 85. The online program increased national exposure for the GCP and DHG.
Dr. Myers, GCP Program Director, was the Guest Editor for the Journal of Genetic Counseling’s special issue on direct-to-consumer genetic testing (June, 2012). The articles in the special issue will contribute to the previously limited data on the impact of direct-to-consumer genetic testing.
Daniel R. Prows, PhD, Associate Professor
Using a susceptibility mouse model, Dr. Prows previously identified several regions linked to differential acute lung injury susceptibility and has now constructed separate lines of mice for the two major regions of effect. Interestingly, these two loci demonstrated opposing allelic effects, such that alleles for one locus led to increased resistance, whereas the same alleles for the second locus increased sensitivity. These findings strongly support that these two regions contain interacting genes and suggest that these mice will provide a powerful model to identify and characterize the genes acting together to affect acute lung injury susceptibility.
Howard M. Saal, MD, FACMG, Professor
Dr. Saal was elected as President of American Cleft Palate-Craniofacial Association, an organization of 2500 members representing over 15 healthcare specialties, including Pediatrics, Medical Genetics, Plastic Surgery, ENT, Psychology, Speech Pathology and Dentistry. He will be responsible for implementing the strategic plan of the Association, committee organization and assignments, annual review of the ACPA executive director, and presiding over the Annual Meeting and Executive Council meetings.
Iris Sageser, RDH, MS, Associate Professor
Ms. Sageser spearheaded the application that resulted in the Craniofacial Center becoming certified in September 2011. This accomplishment ensures compliance with the Standards for Cleft Palate and Craniofacial Teams by the Commission on Approval of Teams (CAT) of the American Cleft Palate-Craniofacial Association.
Elizabeth K. Schorry, MD, Associate Professor
Dr. Schorry is a participant in the multi-center DOD-funded (2012-2017) Neurofibromatosis Consortium, which currently has 3 ongoing drug trials for NF1. Additional drug trials for NF1 and NF2 treatment are components of the re-funded grant. Dr. Schorry is the head of the bone committee in the Consortium.
Teresa A. Smolarek, PhD, Associate Professor/Cytogenetics:
Dr. Smolarek introduced two new fluorescence in situ hybridization (FISH) panels for myeloproliferative disorders and eosinophilia, and re-established the relationship with UC Hematology/Oncology for genetic testing. In addition, isolation of CD138 positive cells was integrated into FISH testing for multiple myeloma.
Siva Theru Arumugam, PhD, Assistant Professor
In a series of publications, Dr. Theru Arumugam pinpointed the CFH locus as the most common gene associated with Age-related Macular Degeneration (AMD), examined the relationships between cataract/cataract surgery and AMD genes, and the genotype/phenotype associations of a CFH common mutation and disease progression/regression and lifetime risks for AMD. These studies will be important for the diagnosis and prognosis of affected AMD patients, a common form of blindness.
Ge Zhang, MD, PhD, Assistant Professor
Dr. Zhang has reported genome-wide association (GWA) studies of metabolic syndrome and related traits in a relatively isolated population. In addition, he is engaged in a genetic study of preterm birth and received a pilot project funded by the Perinatal Institute. The significant results generated from these studies are providing deeper insights into the molecular etiology and genetic architecture of human complex traits.
Kejian Zhang, MD, Associate Professor
Dr. Zhang led the first large scale, multicenter, retrospective study on genetics in geriatric onset Hemophagocytic Lymphohistiocytosis (HLH) leading to a featured article in “Blood”. This study has and will have major impact in the clinical diagnosis and management of adult patients with HLH. Dr. Zhang received the “Entrepreneurial Achievement Award” at the first annual Cincinnati Children’s Hospital Medical Center Faculty Awards Program for her outstanding accomplishments in development and growth of the Division of Human Genetics (DHG), Molecular Genetics Laboratory into a regional, national and international resource for genetic testing.