McKusick-Nathans Institute of Genetic Medicine

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Meet our Postdoctoral Clinical Genetics Trainees

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Current Categorical Genetic Residents

An Dang Do,
MD, PhD

2012-2015

Mauricio DeCastro, MD

2012-2015

Carlos Ferreira, MD

2012-2015

Leah Fleming, MD

2012-2015

Jasmin Roohi,
MD, PhD

2012-2015

Ingrid Wentzensen

Ingrid
Wentzensen, MD

2011-2014

I grew up in southern Germany and received my MD degree from the Ruprecht-Karls-University of Heidelberg in 2003. For my MD thesis, I designed and conducted a study to detect disseminated tumor cells in primary breast cancer patients by immunomagnetic labeling in blood and bone marrow samples at the Institute of Pathology, University of Heidelberg. During medical school, I pursued additional training in molecular and clinical genetics. I then completed 4 years of residency training in general surgery at the Thoraxklinik, University Hospital of Heidelberg, and the General Hospital in Weinheim, Germany, with a strong focus on surgical oncology. After relocating to the US I started a postdoctoral fellowship at the Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics at the National Cancer Institute following my longstanding interest in human genetics. Under the mentorship of Drs. Mark H. Greene and Sharon A. Savage, I focused on the relationship between telomere biology and the risk of malignant disease, telomere biology disorders, and telomere length in hereditary cancer susceptibility syndromes. Furthermore, I have been involved in designing and launching a new family study on Li-Fraumeni Syndrome at the National Cancer Institute.

I am honored to continue my training with a residency in Medical Genetics at the McKusick-Nathans Institute of Genetic Medicine. I feel privileged to learn and understand new developments in the field that advances with such speed and am looking forward to taking on the responsibility of offering explanations and risk communication to patients affected with a genetic disorder. This training will allow me to combine my passion and major interest to become an independent and responsible physician-scientist in the fascinating field of human genetics.

Awards and Honors

2012-2013 Margaret Ellen Nielsen Fellow

Shiv

Shivarajan (Shiv)
Amudhavalli, MBBS

2010-2013

I was born and brought up in Chennai which is the state capital for Tamilnadu in South India. I completed my M.B.B.S training in the year 1999 and graduated from Chennai Medical College, which is affiliated to Tamilnadu Dr.MGR Medical University. Subequently, I had the pleasure of working for 9 months, training in clinical genetics and dysmorphology at Fetal Care Research Foundation(FCRF) in Chennai. I was actively involved in the set up of a Birth Defects Registry at FCRF during this period. Following this, I migrated to United Kingdom, where I trained to be a Pediatrician. I accomplished my Diploma in Child Health (DCH) and Membership in Royal College of Pediatrics and Child health (MRCPCH) in UK. My love for cardiology and genetics grew over time and lured me to seek further training in US. I was fortunate to join as a Pediatric resident at Sinai Hospital of Baltimore. After successfully completing my Pediatric residency at Sinai, I got the opportunity of doing a Medical Genetics Residency in the Institute of Genetic Medicine at Johns Hopkins University. I aspire to widen my knowledge base in Genetic Medicine and Cardiology and eventually do research in the field of Cardiac Genetics. I hope to find more ways to make a difference in the lives of children with variety of congenital and inherited forms of cardiac disorders via research and integrated clinical care as a Cardiac Geneticist.

Awards and Honors

2011-2012 Margaret Ellen Nielsen Fellow

Jill Fahrner, MD, PhD

2009-2013

I grew up in Belleville, Illinois, which is just outside of St. Louis, Missouri. As an undergraduate at Washington University in St. Louis, I majored in Biology and worked in the laboratory of Arnold Strauss, MD, on the characterization of genes involved in mitochondrial fatty acid oxidation. I then accepted a position at the University of North Carolina School of Medicine in the MD/PhD program in 1998. After completing the first two years of medical school, I transferred to the Johns Hopkins University School of Medicine for the PhD part of my training. At Hopkins I was a part of the Cellular and Molecular Medicine graduate training program, and I completed my PhD in the laboratory of Stephen Baylin, MD, in 2004. For my PhD thesis research I worked on epigenetic gene silencing in cancer. In particular, my work focused on how DNA methylation and post-translational histone modifications function together to silence genes in human colorectal cancer. After completing my PhD, I returned to the University of North Carolina School of Medicine to complete my MD degree in 2006. I then went on to complete my Pediatrics residency training at Duke University Medical Center in June 2009.

I am very excited to be a part of the Medical Genetics training program in the Institute of Genetic Medicine at Johns Hopkins. I look forward to pursuing a combined career in clinical genetics and basic science research.

Awards and Honors

2010-211 Margaret Ellen Nielsen Fellow

2012-2013 Chief Resident

Current Combined Pediatric/Genetic Residents

Jessica Duis

Jessica Duis, MD

2011-2016

I was born in Roanoke, Virginia, and grew up in Kensington, Maryland. During my time as an undergraduate at Northwestern University in Evanston, Illinois, I spent several summers at the National Institutes of Health in Bethesda, Maryland, researching genetic diseases such as McCune-Albright and Turner syndromes and the role of personalized medicine in cancer treatment. At the NIH I became interested in the relationship between genetics and cancer and developing molecularly targeted cancer therapies. I pursued a research project focusing on this concept, and this became a thesis for my Master's degree in Chemistry at Northwestern. After completing my Master's, I studied autism and dyslexia at the Center for Functional and Molecular Imaging at Georgetown University in Washington, D.C. I then earned my medical degree at the George Washington School of Medicine and Health Sciences in Washington, D.C., where I researched both learning difficulties associated with Neurofibromatosis Type I and diffusion tensor MR imaging and single subject tractography in patients with ornithine transcarbamylase deficiency (OTCD). I am very excited to be in the combined Pediatrics and Medical Genetics Residency Program at Johns Hopkins. My current research interests are broad and include the role of epigenetic modification in obesity, the genetic underpinnings of learning disabilities, and the role of molecular modifications in genetic susceptibilities to cancer. I hope to pursue a career that combines clinical practice, education, and research in pediatrics and genetics.

Current Combined Maternal Fetal Medicine Fellow/Clinical Genetic Resident

Melissa Russo

Melissa Russo, MD

2011-2016

I am very excited to be a combined Genetics & Maternal Fetal Medicine post-doctoral fellow at the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University. I received my undergraduate degree at Colgate University and majored in neuroscience. After college, I worked at the Center for Blood Research in Boston, MA and studied the role of CD8 T cells and their dysfunction in HIV patients. During this clinical research experience, I decided to pursue a career in medicine.

My interest in genetics began during my training in medical school at Georgetown University School of Medicine. In between my second and third year of medical school, I had the opportunity to be a Howard Hughes Research Scholar at the National Institutes of Health. I worked in the laboratory with Dr. Kenneth Fischbeck and Dr. Charlotte Sumner examining spinal muscular atrophy and the role of histone acetylation in gene expression of the survival motor neuron gene. I decided to pursue a career in obstetrics and completed my residency training in Gynecology and Obstetrics at Johns Hopkins University in 2011. During residency, I attended a workshop at the Broad Institute of MIT and Harvard entitled, “The Genetics of Complex Disorders- A Workshop for Clinical Investigators” and this experience further ignited my interest in genetics.

My research interests involve prenatal origins of adult health and disease. I am specifically interested in investigating the epigenetic mechanisms involved in the prenatal origins of obesity and hope to pursue this work during my fellowship. I am honored to be a Genetics Fellow at the McKusick-Nathans Institute of Genetic Medicine.

Current Clinical Cytogenetic and Molecular Fellows

Molly Sheridan

Molly
Sheridan, PhD

2011-2014

I grew up in Westhampton, NJ. After finishing my undergraduate studies in biology at The College of New Jersey, I decided to pursue a PhD in Cellular and Molecular Medicine at Johns Hopkins University. I completed my PhD thesis research in the laboratory of Dr. Garry Cutting in 2007. My PhD project used sequencing and RNA analysis to elucidate the molecular etiology of pancreatic sufficient cystic fibrosis in patients without two CFTR mutations. I continued my research training at the Children’s Hospital of Philadelphia where I recently completed a postdoctoral fellowship in Dr. Beverly Emanuel’s laboratory. While at CHOP, I conducted two research projects relating to human genetics. The first was the characterization of a constitutional chromosomal translocation, the t(8;22), that is recurrent and is mediated by palindromic AT rich repeats. My second project involved the identification and validation of copy number variants that are associated with the cardiac phenotype of 22q11.2 deletion syndrome (22q11DS).

I’m thrilled to be returning to Johns Hopkins to complete my fellowship in molecular genetics and cytogenetics. I hope to use this unique training experience to build a career that bridges molecular genetics and cytogenetics. My ultimate goal is to become the director of a molecular cytogenetic diagnostic laboratory while continuing to conduct research into the molecular etiology of disease.

Lindsay Henderson, PhD

Lindsay Henderson, PhD

2010-2014

I grew up in Red Wing, Minnesota and majored in biochemistry and molecular biology at the University of Wisconsin - Eau Claire. There, I developed an interest in human disease and genetics which led me to the Predoctoral Training Program in Human Genetics here at Johns Hopkins University. I recently completed my Ph.D. thesis research in the laboratory of Dr. Garry Cutting, where I used family-based association techniques to investigate genetic modifiers of cystic fibrosis. My work provided evidence in support of TGFB1 and IFRD1 as modifier genes of cystic fibrosis lung disease and MSRA as a modifier of the neonatal intestinal obstruction, meconium ileus.

I am excited to begin my fellowship in clinical cytogenetics and molecular genetics at Johns Hopkins. As the overlap between these two fields continues to grow, I believe that training in both specialties will provide me with the skills necessary to become a successful molecular cytogeneticist. Ultimately, I plan to become a diagnostic lab director and engage in research that will advance the application of diagnostic technologies to the understanding of human disease.

GRADUATES 2012

George Charames

George Charames, PhD

2010-2012

Molecular Geneticist

I grew up in Toronto, Canada, and graduated with my PhD in Molecular Oncology from the University of Toronto in 2010 before starting my fellowship here at Johns Hopkins University. My PhD thesis project, conducted under the supervision of Bharati Bapat, PhD at the Samuel Lunenfeld Research Institute (Mount Sinai Hospital, Toronto), focused on identifying mechanistic roles of Rac1 and Rac1b in transcriptionally regulating target genes to promote cellular processes, such as cell migration, in colon cancer with dysregulated canonical Wnt signaling. Prior to my graduate studies, I worked as a Technician in a predictive colon cancer molecular diagnostic lab at Mount Sinai Hospital (Toronto), and continued part-time throughout my studies. My goal is to become a Scientific Director of a molecular diagnostic lab that provides comprehensive genetic analyses for a plethora of genetic disorders. I also hope to continue contributing to the field of molecular genetics through translational research. I am both grateful and honored to be afforded the opportunity to further my training at Johns Hopkins, and to be a part of the Hopkins medical genetics community.

After Graduation: George has taken a position as the Director, Section of Molecular Diagnostics Division of Diagnostic Medical Genetics Department of Pathology and Laboratory Medicine Mount Sinai Hospital, Toronto. He also has an appointment at the University of Toronto as an Assistant Professor.

Abdallah Elias, MD

2009-2012

Clinical Geneticist

I was born in Germany and graduated from medical school at the University of Freiburg. I trained in pediatrics at the Children’s Hospital of the University of Freiburg and in internal medicine at the University Hospital in Göttingen, Germany, before recently completing a residency at the Sioux Falls Family Medicine Residency Program in South Dakota, and a brief fellowship in obstetrics with Family Medicine Spokane in Washington.

My interest in infectious diseases and genetics led to a fellowship in the lab of Patricia Rosa at the Rocky Mountain Laboratories, National Institute of Allergy and Infectious Diseases, National Institutes of Health, and a position as assistant professor at the Institute of Microbiology and Hygiene at the Charité University Hospital in Berlin. In the past, my research focused on the molecular genetics of Borrelia burgdorferi, the infectious agent of Lyme disease.

In the broadest sense, I am interested in the interaction of genes with their environment, particularly the genetic basis of the human host response to infections. The study of human genetic susceptibility to infections is an emerging field with considerable public health implications.

I decided to join the medical genetics residency program at Johns Hopkins because it offers ideal conditions and the necessary support to combine the aspects of medicine I especially care about – clinical care, research and public health.

Awards and Honors

2009-2010 Margaret Ellen Nielsen Fellow

After Graduation:

Hans Bjornsson, MD, PhD

Hans Bjornsson, MD, PhD
2007-2012

Clinical Geneticist/Pediatrician

I grew up in Iceland and graduated from the University of Iceland medical school in June 2001. During my undergraduate training I was mentored by Jon J. Jonsson MD,PhD on a research project transposon-derived repeats and their effects on methyl-associated mutations (led to an article in Gene in 2006). I did my graduate research work with Andrew P. Feinberg MD, MPH. We worked on developing methods to study epigenetic variation in human populations.I graduated with my Phd from the Human Genetics Predoctoral Program at Johns Hopkins University in March 2007. I am currently a combined Pediatric/Genetics resident.

Awards and Honors

2007-2008 Margaret Ellen Nielsen Fellowship in Genetic Medicine

2011-2012 Chief Resident

After Graduation: Hans has joined the faculty of the JHUSOM as an Assistant Professor, Pediatrics and Genetics. He is also the new Associate Director of the Medical Genetics Residency Training Program.

GRADUATES 2011

Ying Wang

Ying
Wang, MD, PhD

2009-2011

Molecular Geneticist

I graduated from Zhengzhou University School of Medicine in 2003 with an M.D. and completed my Ph.D. training in the University of Maryland in 2008. Currently, I am the first year fellow in the Clinical Molecular Genetics Training Program at Johns Hopkins University. My special interest in clinical molecular genetics was developed from learning about the clinical aspects of various genetic disorders and birth defects in my first two years’ graduate study at University of Maryland. My Ph.D. research project mainly involved the identification of hypertension susceptibility genes in the Old Order Amish, a closed founder population, by first utilizing candidate gene and positional cloning strategies, followed by a genome-wide association approach. With the facilitation of this new powerful tool, we discovered a novel blood pressure-regulating gene, STK39, initially in the Amish and then confirmed the finding in four non-Amish Caucasian populations. Through follow-up in vitro functional studies of this gene, I identified a potential casual variant for increased blood pressure. My lifetime career goal is to apply the exciting new discoveries in genetics to the development of diagnostics and prevention for human diseases. I believe my training at the DNA diagnostic lab here will greatly improve my knowledge and qualification in the genetic testing field, and I am looking forward to a challenging and rewarding fellowship at Johns Hopkins Medicine.

After Graduation:

Hilary Vernon

Hilary
Vernon, MD, PhD
2005-2011

Pediatric Geneticist 2010/Biochemical Geneticist 2011

In January of 2004 I completed my PhD in Molecular Genetics from Rutgers University, New Brunswick, NJ and in May of that year graduated from the Robert Wood Johnson Medical School, UMDNJ, Piscataway, NJ.

I am planning to pursue a career in pediatric genetics with both clinical and research components. I have been involved in genetics based research since I was a sophomore in college. My research has ranged from a genome mapping project at the National Human Genome Research Institute and a deletion mapping project at the Children’s Hospital of Philadelphia while an undergraduate, to a lizard population study in the Pine Barrens of New Jersey and a cytogenetics study at Robert Wood Johnson University Hospital while in medical school, to my Ph.D. work in kidney stone diseases and to my current post-doctoral work. Genetics is the most fascinating branch of research to me, and is at the root of so many pediatric diseases. It is the perfect research branch with which to combine clinical and research medicine.

Awards and Honours

2006-2007 Margaret Ellen Nielsen Fellowship Recipient

Dr. Vernon is continuing her training at JHU in Clinical Biochemical Genetics. Hilary will graduate from this Fellowship in May of 2011.

After Graduation:

Hilary will be joining the Institute of Genetic Medicine faculty, as an assistant professor of pediatrics. She will also have an appointment at the Kennedy Krieger Institute and continue to work in the biochemical genetics laboratory.

Michael Walsh

Michael
Walsh, MD

2006-2011

Clinical Geneticist

I feel very privileged to be a part of the Johns Hopkins Combined Pediatric/Genetics Program. My post secondary school path started off with an Economics Degree from Boston College. I then went straight to the National Universtiy in Ireland, where I earned my Medical Degree. Over the course of my medical school training I focused my elective time and summer research breaks toward Pediatric Cancer. Specifically at St. Jude Children's Hospital, I worked on projects related to Rhabdomyosarcoma and Germ Cell Tumors. My reason for coming to Johns Hopkins is centered around the University's dedication to teaching, patient care and breakthrough. My particular interest is in Pediatric Oncology, however, I believe in order to truly understand this subspecialty a firm understanding in Genetics is crucial. Ultimately, my goal is to merge the training I undergo in these various areas into cancer prevention trials.

Awards and Honours

2008-2009 Margaret Ellen Nielsen Fellowship Recipient

After Graduation:

Michael has accepted a position as a Clinical Fellow in the Department of Oncology at St. Jude Children's Research Hospital

GRADUATES 2010

Regina Zambrano

Regina
Zambrano, MD

2007-2010

Clinical Geneticist

I was born, raised and attended Medical School in Barranquilla, Colombia. After obtaining my MD degree from Universidad del Norte, I moved to the United States to pursue a career in Pediatrics and Medical Genetics. I completed my Pediatrics residency training at LSUHSC in New Orleans, Louisiana. Early in life I decided to become a physician, and becoming a Clinical Geneticist has been my goal ever since. My main interests are dysmorphology, birth defects, and the significance of minor congenital anomalies in the healthy child, prenatal diagnosis and newborn screening programs.

I am very excited to be a part of the Medical Genetics training program at JHU, and I am looking forward to work hard towards becoming a skilled clinical geneticist.

After graduation:

Dr. Zambrano accepted a position in her United States home state as an, Assistant Professor, LSU Health Science Center School of Medicine, Geneticist at Children’s Hospital , New Orleans, LA

Vinayak Kottoor, MD

Vinayak
Kottoor, MD
2007-2010

Clinical Geneticist

My educational experience began with schooling in the Midwest followed by the study of molecular biology at Vanderbilt University then to the cosmopolitan city of Bangalore, India where a fascinating medical as well as cultural education ensued. Most recently, I have completed a 4 year Internal Medicine and Pediatrics residency in Saint Louis and an additional year as Chief Resident of Pediatrics. Following upon these mind-broadening life experiences, the pleasure of interacting with a multitude of teachers (including my patients) and an abiding desire throughout to ‘make a difference’, I am looking forward to strengthening my educational foundation in the Medical Genetics program at Johns Hopkins University. My interests are broad with my clinical experiences thus far having motivated me to the area of complex genetics and the interplay of genetic predisposition and environmental variables and newer avenues for intervention. As clinical genetics evolves from determining destiny to finding ways to modify it, I feel privileged to be a part of this increasingly relevant field.

2009-2010 Dr. Kottoor was appointed Chief Resident

After graduation:

Vinayak accepted a position at Johns Hopkins Univesity School of Medicine, Internal medicine, Greenspring Station.

TeresaMartino

Teresa
Martino, DO
2005-2010

Maternal Fetal Medicine Specialist and Clinical Geneticist

I am the first trainee in the combined Maternal Fetal Medicine/Genetics Residency at Johns Hopkins University. I graduated from the New York College of Osteopathic Medicine in 2001. I recently completed my Obstetrics and Gynecology residency at the Bronx Lebanon Hospital Center of The Albert Einstein College of Medicine, in New York.

My goal is to become a highly skilled prenatal geneticist/diagnostician. Training at Johns Hopkins University will give me the opportunity to study with leaders in both MFM and genetics. I am thrilled to be in an institution that strives to provide a breadth and depth of knowledge while excelling in clinical medicine and research.

After graduation: Teresa is continuing her training as a Postdoctoral Fellow in Clinical Genetics in Pregnancy Outcomes in Maternal PKU. Teresa is mentored by Drs. Ada Hamosh and Julie Hoover-Fong

Natini
Jinawath, MD, PhD
2008-2010

Clinical Cytogeneticist

After finishing my medical training from Mahidol University in Thailand, I worked as a general practitioner for 2 years before joining a Ph.D. program in molecular pathology at the Graduate School of Medicine, the University of Tokyo, Japan. My Ph.D. project was to identify the novel molecular diagnostic/therapeutic targets for diffuse-type gastric cancer using a cDNA microarray platform. I continued my postdoctoral training in molecular oncology/cancer genetics field at the Department of Pathology, JHMI, where my works focused on chemoresistant and cancer recurrent phenomenon in ovarian cancer as well as the study of DNA copy number changes using SNP array. During the course of my trainings, I have become more interested in how to use the new technology platforms to directly help patients in a clinical setting, and felt that further training in clinical cytogenetics may help me accomplish my goal. I am thrilled to be a part of medical genetics community at Hopkins and look forward to advancing my education here.

After graduation:

Natini plans to contribute to the advancement/education of clinical genetics field in Thailand by setting up a clinical genetics diagnostic lab as well as continue her work in translational research. Natini has accepted a faculty position at the: Research Center, Faculty of Medicine Ramathibodi Hospital Mahidol University, Ratchathewi, Bangkok.

Hilary Vernon

Hilary
Vernon, MD, PhD
2005-2010

Pediatric Geneticist

Awards and Honours

2006-2007 Margaret Ellen Nielsen Fellowship in Genetic Medicine

After graduation: Dr. Vernon has decided to continue her training in Clinical Biochemical Genetics. Hilary will graduate from this Fellowship in May of 2011.

GRADUATES 2009

Maria
Palmquist, MD
2005-2009

Clinical Geneticist and Maternal Fetal Medicine Specialist

I am a graduate of the University of South Dakota School of Medicine class of 2001. After completing a year of Family Medicine Residency, I transferred to the University of Kansas in Wichita to continue my education in Obstetrics and Gynecology. Through my obstetrical training I have witnessed the importance of genetics, especially when counseling patients with infertility, recurrent pregnancy loss, fetal anomalies and aneuploidy.

I am very excited to be apart of the Medical Genetics Program at Johns Hopkins University. As I continue my education, I hope to focus my training in the areas of fetal dysmorphology and prenatal diagnosis.

After graduation:

Assistant Professor, Department of Ob/Gyn Sanford School of Medicine, University of South Dakota

Feng Li

Feng Li, PhD
2007-2009

Cytogeneticist

I received both my clinical training and PhD degree in Pathology at Beijing Medical University (currently Peking University Health Science Center). My PhD thesis consisted of developing a novel application of a molecular biological technique in prenatal diagnosis of chromosomal abnormality. During my postdoctoral training, I studied association of gene transcription with chromatin structure, regulation of mitochondrial biogenesis and glucose metabolism by transcriptional factor c-Myc and investigated the genetics of the imprinting gene H19 and its possible role in hepatocellular carcinoma.

I am excited to join the medical genetics training program to strengthen my clinical cytogenetics diagnostic skill and broaden my knowledge on many facets of human genetics. I look forward to being a part of this fast growing field.

After Graduation: Feng has accepted a position as the Assistant Director, Cytogenetics, Kaiser Permanente, San Jose, CA.

GRADUATES 2007

Amr Al-Saif

Amr Al-Saif, PhD
2004-2007

Molecular Geneticist

I graduated with an MBBS in 2001 from the College of Medicine, King Faisal University in Saudi Arabia, after which I spent one year as an intern. From 2002-2004 I was hired as an assistant scientist at the King Faisal State Hospital and Research Center, Riyadh, Saudi Arabia. Since 2004
I have been a Clinical Molecular Genetics Postdoctoral Fellow, in the Institute of Genetic Medicine, Johns Hopkins University. I am currently doing research in the laboratory of Dr. Nicholas Katsanis.

Non coding RNA (ncRNA) species play a significant role in the biology of both prokaryotic and eukaryotic cells. They have a wide spectrum of functions including regulatory, catalytic and structural, many of them are house keeping RNA molecules. A class of these ncRNAs is large mRNA like transcripts that are not predicted to code for proteins though they are highly conserved. I'm studying some species of this class by in vitro and in vivo assays to understand their nature of function and to develop suitable experimental methods that will aid in characterizing them in a wide scale in the future.

Finally I am also working on a disease with possible complex inheritance pattern called Fuchs Endothelial Corneal Dystrophy.

Veronica Mardo,MD
2005-2007

Clinical Geneticist

I was born and grew up in Mexico. After graduating from La Salle University School of Medicine in Mexico City, I moved to the United States to train in Medical Genetics. I completed my Family Medicine residency training at the Lutheran Medical Center in Brooklyn, NY, where in my final year I was chief resident.

My interest in the field of genetics include the study and treatment of metabolic disorders. My objective in training at Johns Hopkins is to obtain the necessary expertise to treat individuals and families affected with inherited enzymatic deficiencies.

Awards and Honours

2005-2006 Margaret Ellen Nielsen Fellowship in Genetic Medicine

AFTER GRADUATION:

Dr. Mardo has joined the Florida Medical Clinic in Pasco Florida as a staff physician.

Reem

Reem
Saadeh, MD
2004-2007

Clinical Geneticist

I was born in Lebanon and grew up in Athens, Greece. I came to the U.S. for university where I attended Georgetown University as an undergraduate and medical student. I completed my residency in Pediatrics at NYU Hospitals in June 2004. My interests include craniofacial dysmorphology and population genetics, particularly for genetic diseases affecting people of Mediterranean descent. I am excited to be a part of the genetic medicine training program at Johns Hopkins University. Especially important to me, is the strength of JH’s metabolic service. I believe it is important that a geneticist be exposed to and become comfortable and confident in a wide variety of genetic subspecialties.

Awards and Honours

2004-2005 Margaret Ellen Nielsen Fellowship in Genetic Medicine

AFTER GRADUATION

Dr. Saadeh has accepted a position as a clinical genetics at Sibley Memorial Hospital Washington, D.C.

GRADUATE 2006

Ronald Cohn, MD
2001-2006

Clinical Geneticist

I am the first combined pediatric/genetic resident at Johns Hopkins University. I attended medical school in Essen, Germany and completed two years of pediatric residency at the Children’s Hospital of the University of Essen, during which time I was responsible for the immunofluorescence diagnostics in the neuromuscular diagnostic laboratory. As a postdoctoral fellow with Dr. Kevin Campbell at the Howard Hughes Medical Institute and University of Iowa, I focused on the mechanism of cardiomyopathies associated with muscular dystrophies and the abnormal muscle regeneration in muscular dystrophies. I joined the five year combined program at Johns Hopkins because of the abundant teaching and research opportunities. This training will facilitate my goals of becoming a physician scientist, board-certified in clinical genetics as well as a highly capable pediatrician skilled in the application of scientific progress to clinical medicine. I also plan to continue my research in muscular dystrophy and aspects of muscle regeneration.

Awards and Honours

06/2004 David M.Kamsler Award Outstanding Compassionate and Expert Care of Pediatric Patients, Johns Hopkins Children's Center Staff

05/2005 Award for best postdoctoral research presentation 2nd Annual Retreat of the McKusick-Nathans Institute of Genetic Medicine

09/2005 Young Investigator Award 7th International Symposium on Marfan syndrome, Ghent, Belgium

01/2006 Johns Hopkins Clinician Scientist Award

04/2006 Helen B. Taussig Award Johns Hopkins Young Investigators' Day

06/2006 Inaugural Award in Medical Genetics, Harvard Medical School-Partners Health Care Center for Genetics and Genomics

AFTER GRADUATION:

Dr. Cohn has joined the faculty of pediatrics, neurology and the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University, to further his research in neuromuscular disorders. He plans to start a Center for Hypotonia, the first clinic of its kind. This Center will provide these children and their families with resources for coordinated diagnostic and therapeutic services.

GRADUATES 2005

Tyler
Reimschisel, MD

2002-2005

Clinical Genetics and Biochemical Geneticist

I graduated from Rush Medical College in 1997 and completed my residency training in pediatrics and child neurology at Johns Hopkins Hospital. I am board-certified in neurology with special qualifications in child neurology. Currently, I am a member of the Ethics Service at Johns Hopkins Hospital and the Ethics, Law, and Humanities Subcommittee of the American Academy of Neurology. My areas of clinical interest include neurometabolic diseases, mental retardation, and the neurological manifestations of skeletal dysplasias. I am actively involved in research on Barth syndrome and nail-patella syndrome. One of the best aspects of training at Johns Hopkins is the opportunity to collaborate with faculty who are both excellent clinicians and preeminent researchers in their areas of expertise.

AFTER GRADUATION:

Dr. Reimschisel has relocated to Vanderbilt University and is Assistant Professor of Pediatrics and Neurology; Director, Division of Developmental Medicine and Cognition; Associate Director, MIND Training.

Michelle Nino, MD

2002-2005

I graduated from Georgetown University School of Medicine in 1998 and completed my Internal Medicine/Pediatric Residency at the Medical College of Virginia Hospital. As a genetic fellow at Johns Hopkins I have had the opportunity to be educated by some of the most respected geneticists in the field of metabolic medicine. One of the most rewarding experiences in my clinical training has involved treating patients with Hurler-Scheie syndrome using enzyme replacement therapy. Currently, my laboratory training includes working with Dr. Nancy Braverman to improve the evaluation of patients with chondrodysplasia punctata, to offer molecular and biochemical verification for the clinical diagnosis of X-linked recessive chondrodysplasia punctata (CDPX1), and to evaluate the function of arylsulfatase E in normal bone and cartilage development. It is truly a remarkable educational experience.

AFTER GRADUATION:

Dr. Nino accepted a position with the National Institutes of Health, National Institute on Drug Abuse, Molecular Neurobiology Research Branch in Baltimore Maryland.

Doug

Douglas Riegert-Johnson, MD
2003-2005

Clinical Geneticist

I was born and raised in Alabama where I also attended medical school at the University of Alabama School of Medicine. I completed my internal medicine residency training at the Mayo Clinic, in Rochester MN where in my final year I was chief resident. I was drawn to medical genetics because of the rapid pace of the field’s growth and the application of bench research to the bedside. My training at Johns Hopkins has exposed me to a large cross section of genetic diseases from methylmalonic aciduria to Marfan syndrome. My current research interests include stiff skin syndrome and congenital disorders of glycosylation.

Awards and Honours

2003-2004 Margaret Ellen Nielsen Fellowship in Genetic Medicine

AFTER GRADUATION:

Dr. Riegert returned to the Mayo Clinic to pursue his studies as a Fellow in Gasteroenterology.
He has joined the faculty at the Mayo Clinic in Jacksonville Florida in the Department of Gastroenterology & Hepatology as an Assistant Professor of Medicine.

GROUP PHOTO 2011

Front Row (L to R)

Denise Batista
Ronald Cohn
Dave Valle
Lisa Kratz
Constance Griffin

Back Row (L to R)

Jill Fahrner
Lindsay Henderson
Hans Bjornsson
Abe Elias
Michael Walsh
George Charames
Ingrid Wentzensen
Shiv Amudhavalli
Hilary Vernon