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2012 Genetics Conferences

Genetics — New Treatments, New Research, New Dilemmas

July 28: Austin, TXBarton Creek Resort

August 4: San Antonio, TXWestin La Cantera

August 11: Dallas, TXWestin Galleria

Texas DSHS Newborn Screening Unit and Genetics has partnered with Cardea to bring you our 2012 Genetics Conference.

Texas Department of State Health Services

Physicians, nurse practitioners, nurses, and clinical staff who attend this conference will learn about new tests and treatments available to patients with genetic disorders, identify local resources for genetic referrals and discuss the ethical dilemmas that are brought about with these new technologies.

Lodging

Each site has a small room block at the special conference rate. Use the registration link to the right to find more about the rates and how to reserve a hotel room.

Times

Check in for the conferences will begin at 8:30 am Central. Each conference will start at 9:30 am and end at 5:00 pm. A reception will be held directly following the event where you can network with the speakers and other experts in the field.

Who should attend?

Physicians, nurses, nurse practitioners, PAs, CNMs, genetic counselors and others who may encounter patients with genetic disorders. Fields include, but are not limited to: general/family practice, pediatrics, and OB/Gyn, Genetics.

Cost

Free

Continuing Education (CME)

This activity has been planned and implemented in accordance with the Essential Areas and Policies of the Texas Medical Association (TMA) through the joint sponsorship of Seton Healthcare Family and Cardea Services. The Seton Healthcare Family is accredited by TMA to provide continuing medical education for physicians.

The Seton Healthcare Family designates this educational activity for a maximum of 5.5 AMA PRA Category 1 credit(s)™. Physicians should claim only credit commensurate with the extent of their participation.

The presentation, Dilemmas in Genetic Treatment/Diagnosis, has been designated for 1 credit of education in medical ethics and/or professional responsibility.

Continuing Nursing Education (CNE)

Cardea Services is an approved provider of continuing nursing education by the Texas Nurses Association, an accredited approver by the American Nurses Credentialing Center’s Commission on Accreditation.

Upon successful completion of each session of this educational activity 5.5 continuing nursing education hours will be awarded.

Successful completion of this continuing nursing education activity includes the following:

  • Being registered for this activity;
  • Completing the sign in and Verification of Attendance form;
  • Being present no later than five (5) minutes after starting time;
  • Remaining until the scheduled ending time of each session; and
  • Completing and submitting the evaluation form(s).

Topics and Objectives

Overview of Emerging Therapies for Genetic Disorders
  • Cite the Texas rates for birth defects
  • Discuss how new advances in the treatment of genetic disorders will affect screening and referrals to genetic specialists
Treatment for Skeletal Dysplasia and Connective Tissue Disorders
  • List available tests of connective tissue disorders and skeletal dysplasias
  • Describe new treatments of connective tissue disorders and skeletal dysplasias
Treatment of Lysosomal Storage Diseases
  • Identify the treatment options that are available for Lysosomal Storage Diseases
  • Explain the issues in timing the initiation of treatments for presymptomatic patients
Clinical and Treatment Update on Neurofibromatosis (Austin)
  • Identify patients with neurofibromatosis who may benefit from new therapeutic approaches and clinical trials
  • Recognize when best to refer patients with neurofibromatosis for specialized treatment and subspecialist care
New Treatments for Signaling Defects: Neurofibromatosis (San Antonio and Dallas)
  • Identify appropriate new treatments for signaling defects
  • Appropriately judge when to make referrals for treatment
Ethics - Dilemmas in Genetic Treatment/Diagnosis
  • Define components of ethical reasoning
  • Identify ethical challenges of managing genetic diagnoses
Panel Discussion: How Advances in Testing and Treatment of Genetic Disorders Affect Local Practice
  • Discuss multiple perspectives on how changes in genetic testing and treatment affect patient care.
  • Identify local resources for genetic treatment referrals.

Faculty

Jaya George-Abraham, MD

Beth A. Pletcher, MD, FAAP, FACMG

Dimple Sureka, MD

Ralph DeBerardinis, MD, PhD

Scott McLean, MD

Dwight Koeberl, MD, PhD

Chester Whitley MD, PhD

Carlos A. Bacino, MD

Peter Byers, MD

Debra Freedenberg, MD, PhD

LaDonna Immken, MD

Laurence B. McCullough, PhD

Raphael Schiffmann, MD, MHSc

Elizabeth Schorry, MD

David H. Viskochil, MD, PhD

 

This event is funded by the Texas Department of State Health Services, Contract No. 2012-040124

 

Jaya George-Abraham, MD is a Clinical Geneticist at ‘Specially for Children, the only pediatric sub-specialty medical group in Central Texas. Dr. George-Abraham was certified by the American Board of Pediatrics in 2009. She recently returned to Texas after completing her clinical genetics fellowship at Cincinnati Children’s Hospital Medical Center in 2011.

Beth A. Pletcher, MD, FAAP, FACMG is an Associate Professor of Pediatrics and Medicine at the University of Medicine and Dentistry - New Jersey Medical School. Dr. Pletcher served on the Board of Directors of the American College of Medical Genetics (ACMG) for six years and she was the first Chair of the AAP Section on Genetics and Birth Defects. Dr. Pletcher is currently on the University Hospital Bioethics Committee. She is the Co-Director of The Neurofibromatosis Center of New Jersey, where more than 600 patients with neurofibromatosis receive care. Her clinical and research interests include: neurofibromatosis, autism, Fragile X syndrome, craniofacial disorders, cancer genetics, public policy on genetic screening, genetic education for primary care providers as well as pediatric workforce issues.

Dimple Sureka, MD is a Clinical Assistant Professor for the Eugene McDermott Center for Human Growth and Development Internal Medicine at UT Southwestern Medical Center. She is a board certified clinical geneticist.

Ralph DeBerardinis, MD, PhD is an Assistant Professor of Pediatrics and Genetics at theChildren's Medical Center Research Institute at UT Southwestern, Eugene McDermott Center for Human Growth & Development and Pediatrics. Dr. DeBerardinis is also an attending physician in the Division of Pediatric Genetics and Metabolism at Children’s Medical Center, where he is involved in the diagnosis and care of children with inborn errors of metabolism.

Scott McLean, MD is a Clinical Geneticist at San Antonio Clinical Genetics. During 26 years on active duty in the United States Army, Dr. McLean completed  his residency  in Pediatrics and a fellowship in Clinical Genetics. Colonel McLean served as Consultant to the Army Surgeon General for Clinical Genetics and represented the Department of Defense on committees like the ACMG Expert Group on Newborn Screening and the Secretary's Advisory Committee on Genetics, Health, and Society. His specialty includes treating patients with nevoid basal cell carcinoma syndrome, osteogenesis imperfecta, down syndrome, congenital malformations, marfan syndrome, and neurofibromatosis.

Dwight Koeberl, MD, PhD is an Associate Professor in the Department of Pediatrics/Division of Medical Genetics at Duke University Medical School, with a secondary appointment in Molecular Genetics and Microbiology (MGM). He is the Medical Director for both the Mass Spectrometry and Glycogen Storage Disease Laboratories. He recently won the 2011-2012 Best Doctors Award in the state of North Carolina for his work on pediatrics and medical genetics.

Chester Whitley MD, PhD, is a geneticist at the University of Minnesota Amplatz Children's Hospital. He specializes in pediatric genetics and metabolism. Dr. Whitley’s clinical interests include genetics, phenylketonuria, and inborn errors of metabolism.  He received his board certification in genetics and has earned the Best Doctors in America award in 2011-2012.

Carlos A. Bacino, MD is an Associate Professor at the Department of Molecular and Human Genetics, Baylor College of Medicine. Dr. Bacino is involved in the diagnosis and management of patients with birth defects and a variety of genetic disorders. He participates in subspecialty clinics such as the Skeletal Dysplasia and Craniofacial Clinics. As the Medical Director of the Kleberg Cytogenetics Laboratory, he has a particular interest in structural chromosomes abnormalities and genomic disorders, as well as the mechanism of origin of these chromosome anomalies.

Peter Byers, MD is a Professor of Pathology and of Medicine and Adjunct Professor of Genome Sciences at the University of Washington, School of Medicine in Seattle, Washington. His research involves the characterization of mutations in type I collagen genes that give rise to forms of osteogenesis imperfecta and other disorders, the identification and characterization of mutations in type III collagen genes which give rise to Ehlers-Danlos syndrome type IV, identification of proteins in the intracellular and extracellular processing pathways that identify abnormal collagen proteins, and the mechanisms of mRNA processing in collagen genes, among others.

Debra Freedenberg, MD, PhD is the Medical Director of the Newborn Screening Program and Genetics at the Texas Department of State Health Services. She has experience in academic, private practice, and public health settings covering all areas of genetics practice, including prenatal, cancer genetics, metabolism, dysmorphology and Intellectual Disabilities. She is board certified in pediatrics, clinical genetics, clinical molecular genetics, and medical biochemical genetics. She has particular expertise in short term and long term follow up of children identified by newborn screening and serves on many national and regional committees related to newborn screening and genetic services.

LaDonna Immken, MD is a Clinical Geneticist at ‘Specially for Children, a regional medical group that provides pediatric subspecialty care and treatment to children and adolescents with severe, unusual and complex illnesses. She is board certified in clinical genetics and cytogenetics and a Founding Fellow of the American College of Medical Genetics and Genomics. Dr. Immken specializes in clinical and metabolic genetics in addition to pediatrics. Her special interests include Prenatal Diagnosis, Fetal Dysmorphology, and Fetal Syndromology.

Laurence B. McCullough, PhD is the Associate Director for Education and inaugural holder (since May 2008) of the Dalton Tomlin Chair in Medical Ethics and Health Policy in the Center for Medical Ethics and Health Policy, Baylor College of Medicine, where is he also professor of Medicine and Medical Ethics. Dr. McCullough is a professor of Family and Community Medicine at Baylor and faculty associate of Baylor’s Huffington Center on Aging in Houston, TX.

Raphael Schiffmann, MD, MHSc is the Medical Director of the Institute of Metabolic Disease at Baylor University Medical Center at Dallas. His research Interests are Neurometabolic diseases, Lysosomal diseases, and Leukodystrophies. Current Research includes therapies for Fabry disease and neuronopathic Gaucher disease, the etiologies and mechanisms of the leukodystrophies, and natural history of mucolipidosis type IV.

Elizabeth Schorry, MD is the Director of the Neurofibromatosis Clinic at Cincinnati Children’s Hospital Medical Center and Associate Professor at the UC Department of Pediatrics Dr. Schorry provides medical management, genetic assessment and genetic counseling for children with a wide range of genetic disorders and congenital anomalies. She has a special interest in neurofibromatosis and tuberous sclerosis.

David H. Viskochil, MD, PhD is the Medical Director of the University of Utah Graduate Program in Genetic Counseling, Professor of Pediatrics and Director of Clinical Genetics services in the division of medical genetics in Salt Lake City, Utah. Dr. Viskochil has done extensive research, specifically in the molecular genetics of neurofibromatosis type 1 (NF1). He serves as chair of the clinical care advisory board for the Children’s Tumor Foundation (national NF support group) and is on the board of advisors for Genzyme’s MPS I Patient Registry.