The field of genetics has made considerable strides in the past few decades. As genetics continues to evolve, the diagnosis and care of those with genetic disorders improves. Healthcare providers are more quickly able to screen and identify, test, and diagnose patients with these conditions, thereby giving better opportunity for intervention services.

Acknowledgement: This course is supported by educational grants from Celera and the Applera Charitable Foundation. The Colon Cancer Genetics course is designed to enhance the participants' knowledge of inherited colon cancer syndromes, particularly Hereditary Nonpolyposis Colorectal Cancer (HNPCC, or Lynch Syndrome). The participant will be guided through how to identifying patients at a high-risk of harboring genetic mutations that predispose them to colon cancer. Participants will also le...

Acknowledgement: This course is supported by educational grants from Celera and the Applera Charitable Foundation. Rheumatoid arthritis (RA) is the most common inflammatory arthritis, affecting up to 1% of the adult population. In the U.S. alone, it is estimated that 2.5 million people suffer from the disease, with a societal monetary cost measured in the billions. The clinical course of RA is variable: some patients suffer mild, self-limiting arthritis while others develop progressive mult...

Acknowledgement: This course is supported by educational grants from Celera and the Applera Charitable Foundation. This case study illustrates a common clinical scenario (i.e., renal cystic disease in a proband with an inconclusive family history) and many issues related to diagnosis and management of polycystic kidney disease.

Acknowledgement: This course is supported by educational grants from Celera and the Applera Charitable Foundation. This course presents three brief patient scenarios that highlight ethical challenges presented by advances in genetic testing. While specific topics include an introduction to the Genetics Information and Nondiscrimination Act, direct-to-consumer genetic testing, and the presymptomatic testing of minors, broader themes such as respect for autonomy, the boundaries between law an...

Acknowledgement: This course is supported by educational grants from Celera and the Applera Charitable Foundation. The differential diagnosis of early coronary artery disease contains a number of genetic and environmental eitiologies. This course will review one important genetic condition which needs to be considered and ruled out when evaluating patients and families with histories of early heart attacks.

Acknowledgement: This course is supported by educational grants from Celera and the Applera Charitable Foundation. There are several genetics diagnoses that can present with complete heart block. However, complete heart block in the context of a family history of muscle weakness and stiffness (myotonia) can be indicative of myotonic dystrophy. Myotonic dystrophy is the most common inherited neuromuscular disorder presenting in adults. This patient has classic myotonic dystrophy type 1 (DM1)...

Acknowledgement: This course is supported by educational grants from Celera and the Applera Charitable Foundation. This web-based course with provide participants with an up-to-date overview of Marfan syndrome in a case-based format. It will focus on the recognition and clinical management of individuals with Marfan syndrome and the differentiation with other overlapping conditions. The use of molecular genetic testing in clinical situations will also be discussed.

Acknowledgement: This course is supported by educational grants from Celera and the Applera Charitable Foundation. It is estimated that as many as 1/1000 individuals are affected with Noonan syndrome, which has a highly variable presentation even within the same family. It is not uncommon for a mildly affected parent not to be diagnosed until adulthood when they have a more severely affected child. This CME should help providers recognize the possible presentations of Noonan syndrome, ...

Acknowledgement: This course is supported by educational grants from Celera and the Applera Charitable Foundation. In this course, a 36-year-old woman presents with concerns about her family history of cancer. Her cousin has recently been diagnosed with breast cancer at age 29. She wants to know if she should start to have mammograms and/or MRIs and if she should have genetic testing. This case provides an overview of hereditary breast and ovarian cancer while addressing the synthesis of...

A 34-year-old woman is suspected of having neurofibromatosis 1 (NF1) after her physician finds skin fold freckling and suspects cutaneous neurofibromas on a routine physical exam. Based on the family history, she appears to be the first individual in her family with NF1 (not surprising since half of all cases of NF1 are the result of new mutations). She is, however, considering starting a family, and a diagnosis of NF1 has significant implications for any pregnancies. This case discusses the d...

Acknowledgement: This course is supported by educational grants from Celera and the Applera Charitable Foundation. This course discusses a syndromic cause of morbid obesity and cognitive impairment, Prader Willi Syndrome. Participants will learn about the clinical features of Prader Willi Syndrome, for whom this diagnosis should be considered, and what diagnostic laboratory testing is indicated. Detailed information about the underlying genetic etiology and mechanisms is presented. The part...

Acknowledgement: This course is supported by educational grants from Celera and the Applera Charitable Foundation. Hypertrophic cardiomyopathy has an estimated prevalence of 1 in 500 adults and therefore represents a common genetic disease with significant morbidity and mortality. This CME will help the primary care provider recognize clues to the existence of this disease in their patients and their patients' families. This will enable appropriate diagnosis and management of those affected...

Acknowledgement: This course is supported by educational grants from Celera and the Applera Charitable Foundation. Adenocarcinoma is the most common type of lung cancer in nonsmokers, comprising nearly 60% of cases, and it is associated with the Epidermal Growth Factor Receptor (EGFR) mutation. For patients with suspected lung cancer, it is important to consider early in the evaluation whether or not they may have an EGFR mutation, as this influences considerations about what type of biopsy...

Acknowledgement: This course is supported by educational grants from Celera and the Applera Charitable Foundation. This case follows a 20-month-old girl with febrile and afebrile seizures. Her clinical presentation and diagnostic workup is most consistent with Severe Myoclonic Epilepsy of Infancy (SMEI), also known as Dravet syndrome. The most common cause of SMEI is mutation in the SCN1A gene (one of a cluster of sodium channel genes localized to chromosome 2q24), which have been detected ...

Acknowledgement: This course is supported by educational grants from Celera and the Applera Charitable Foundation. Tuberous sclerosis complex is a relatively common genetic disease with an extremely wide range of manifestations, which can affect nearly any of the body's organ systems. The ability to recognize and diagnosis this condition early is critical to providing adequate care to these patients. This requires knowledge of the full spectrum of findings and severities with which tuberous...

The purpose of this activity is to educate the participants on the current status of screening methods for early detection of fetal chromosome abnormalities. Current and new findings will be discussed for the choices of non-invasive genetic testing options. Review of the development and implementation of the various screening options, as well as the principles and process of validating genetic tests.

Acknowledgement: This course is supported by educational grants from Celera and the Applera Charitable Foundation. Familial Dilated Cardiomyopathy (DCM) is defined by the presence of either DCM or unexplained death (before the age of 30) in two or more closely related family members. The estimate of familial prevalence is influenced by the population which is studied and which methods are used to screen for cardiomyopathy. However, if pedigree construction is combined with serial screening ...

Acknowledgement: This course is supported by educational grants from Celera and the Applera Charitable Foundation. Diabetes is a heterogeneous disease. While the practitioner can generally distinguish between type 1 and type 2 diabetes on the basis of clinical features, there are rarer forms of the disease which do not follow this simple categorization. Among them are the monogenic forms of diabetes, which comprise 1-5% of all diabetes and include maturity onset diabetes of the young (MODY)...

Acknowledgement: This course is supported by educational grants from Celera and the Applera Charitable Foundation. Diabetes is a heterogeneous disease. While the practitioner can generally distinguish between type 1 and type 2 diabetes on the basis of clinical features, there are rarer forms of the disease which do not follow this simple categorization. Among them are the monogenic forms of diabetes, which comprise 1-5% of all diabetes and include maturity onset diabetes of the young (MODY)...

Upon completion of this course, you will be able to: * Differentiate type 1 from type 2 diabetes * Describe the epidemiology of type 1 diabetes * Explain the pathogenesis of type 1 diabetes * State the criteria and methods used to diagnose type 1 diabetes * Discuss the management of type 1 diabetes * Identify important complications of type 1 diabetes

1. Apply presymptomatic gene testing to family members with familial renal cancer in order to facilitate earlier diagnosis and treatment for this population. 2. Use genetic testing for timely detection of familial renal cancer in carriers to enable earlier use and increased efficacy of VEGF and mTOR pathway inhibiting drugs.

Acknowledgement: This course is supported by educational grants from Celera and the Applera Charitable Foundation. Adenocarcinoma is the most common type of lung cancer in nonsmokers, comprising nearly 60% of cases, and it is associated with the Epidermal Growth Factor Receptor (EGFR) mutation. For patients with suspected lung cancer, it is important to consider early in the evaluation whether or not they may have an EGFR mutation, as this influences considerations about what type of biopsy...

Session 1: A Review of the HIV Epidemic: Movement of an Acute to a Chronic Paradigm. Session 2: Psychiatry Review Session 3: Biotechnology Drugs

The purpose of this activity is to instruct participants on methods to incorporate into their practice new prenatal clinical diagnostic testing for fetuses with congenital heart defects and segmental aneuploidies. They will learn to identify the various testing options along with their benefits and limitations. This will aid in the management of women carrying such pregnancies through correct interpretation of test results.

The Crohn’s & Colitis Foundation of America (CCFA) is pleased to present online archives of the three-part webcast series entitled Optimizing Care for Patients with IBD: Highlights from the "Advances in IBD" Conference. These accredited webinars feature highlights from the most widely attended presentations from our 2010 Advances in IBD Crohn’s & Colitis Foundation’s Clinical & Research Conference. In the "The Latest in Genetics, Risks, and Therapy Management in IBD" webcast, you will...

View Registration Information After completing this CME module, participants will be able to 1. Discuss the pathophysiology and etiology of Duchenne muscular dystrophy, including incidence, pathogenesis, and genetics. 2. Describe the typical clinical presentation of patients with Duchenne muscular dystrophy, including common history and physical examination findings. 3. Identify laboratory studies and histologic findings used in confirming the diagnosis of patients with Duchen...

Physicians, nutritionists, economists and politicians, with unprecedented unity, are warning that the recent increases in obesity and diabetes are creating extraordinary public health challenges nationally and globally. According to a recent Institute of Medicine report: "The great advances of genetics and biomedical discoveries could be more than offset by the burden of illness, disability and death caused by too many people eating too much and moving too little over their lifetime." In this ...

James O. Armitage, MD, Richard I. Fisher, MD, and Julie M. Vose, MD, provide an analysis of key data on Lymphomas presented at the American Society of Hematology 2011 Annual Meeting.* Topics covered include: • Lymphoma in Pregnancy • Diffuse Large B-Cell Lymphoma • Follicular Lymphoma • Mantle Cell Lymphoma • Peripheral T-Cell Lymphoma • Novel Agents *CCO is an independent medical education company that provides state-of-the-art medical information to healthcare pr...

John C. Byrd, MD, and Kanti Rai, MD, provide an analysis of key data on chronic lymphocytic leukemia presented at the American Society of Hematology 2011 annual meeting*. Topics covered include: • Strategies for Frontline Therapy in Older Patients • Approaches for Relapsed/Refractory Disease • Novel Agents *CCO is an independent medical education company that provides state-of-the-art medical information to healthcare professionals through conference coverage and other ed...