Understanding Genetics

The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care, patient and professional education, and identification of specialty genetics services within the New York - Mid-Atlantic region. At the end of each section, a list of references is provided for additional information. Appendices can be copied for reference and offered to patients. These take-home resources are critical to helping both providers and patients understand some of the basic concepts and applications of genetics and genomics.

An accessible but rigorous introduction to genes for non-experts, explaining what genes are and what they can and cannot do.

Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions Explores opportunities for novel therapeutics Features chapter contributions from leading researchers and clinicians

The #1 NEW YORK TIMES Bestseller The basis for the PBS Ken Burns Documentary The Gene: An Intimate History Now includes an excerpt from Siddhartha Mukherjee’s new book Song of the Cell! From the Pulitzer Prize–winning author of The Emperor of All Maladies—a fascinating history of the gene and “a magisterial account of how human minds have laboriously, ingeniously picked apart what makes us tick” (Elle). “Sid Mukherjee has the uncanny ability to bring together science, history, and the future in a way that is understandable and riveting, guiding us through both time and the mystery of life itself.” —Ken Burns “Dr. Siddhartha Mukherjee dazzled readers with his Pulitzer Prize-winning The Emperor of All Maladies in 2010. That achievement was evidently just a warm-up for his virtuoso performance in The Gene: An Intimate History, in which he braids science, history, and memoir into an epic with all the range and biblical thunder of Paradise Lost” (The New York Times). In this biography Mukherjee brings to life the quest to understand human heredity and its surprising influence on our lives, personalities, identities, fates, and choices. “Mukherjee expresses abstract intellectual ideas through emotional stories…[and] swaddles his medical rigor with rhapsodic tenderness, surprising vulnerability, and occasional flashes of pure poetry” (The Washington Post). Throughout, the story of Mukherjee’s own family—with its tragic and bewildering history of mental illness—reminds us of the questions that hang over our ability to translate the science of genetics from the laboratory to the real world. In riveting and dramatic prose, he describes the centuries of research and experimentation—from Aristotle and Pythagoras to Mendel and Darwin, from Boveri and Morgan to Crick, Watson and Franklin, all the way through the revolutionary twenty-first century innovators who mapped the human genome. “A fascinating and often sobering history of how humans came to understand the roles of genes in making us who we are—and what our manipulation of those genes might mean for our future” (Milwaukee Journal-Sentinel), The Gene is the revelatory and magisterial history of a scientific idea coming to life, the most crucial science of our time, intimately explained by a master. “The Gene is a book we all should read” (USA TODAY).

Ultimately, the quality of the tools available for genetic analysis and experimental disease models will be assessed on the basis of whether they provide new information that generates novel treatments for human disease. In addition, the time frame in which genetic discoveries impact clinical practice is also an important dimension of how society assesses the results of the significant public financial investment in genetic research. Because of the investment and the increased expectation that new tre- ments will be found for common diseases, allowing decades to pass before basic discoveries are made and translated into new therapies is no longer acceptable. Computational Genetics and Genomics: Tools for Understanding Disease provides an overview and assessment of currently available and developing tools for genetic analysis. It is hoped that these new tools can be used to identify the genetic basis for susceptibility to disease. Although this very broad topic is addressed in many other books and journal articles, Computational Genetics and Genomics: Tools for Understanding Disease focuses on methods used for analyzing mouse genetic models of biomedically - portant traits. This volume aims to demonstrate that commonly used inbred mouse strains can be used to model virtually all human disea- related traits. Importantly, recently developed computational tools will enable the genetic basis for differences in disease-related traits to be rapidly identified using these inbred mouse strains. On average, a decade is required to carry out the development process required to demonstrate that a new disease treatment is beneficial.

Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise, practical resource. Drs. Mary Norton, Jeffrey A. Kuller, Lorraine Dugoff, and George Saade fully cover the clinically relevant topics that are key to providers who care for pregnant women and couples contemplating pregnancy. It’s an ideal resource for Ob/Gyn physicians, maternal-fetal medicine specialists, and clinical geneticists, as well as midwives, nurse practitioners, and other obstetric providers. Provides a comprehensive review of basic principles of medical genetics and genetic counseling, molecular genetics, cytogenetics, prenatal screening options, chromosomal microarray analysis, whole exome sequencing, prenatal ultrasound, diagnostic testing, and more. Contains a chapter on fetal treatment of genetic disorders. Consolidates today’s available information and experience in this important area into one convenient resource.

"SHARAD P. PAUL, MD, is starting a health RxEvolution. He argues it's time to stop relying on prescriptive drugs to alleviate all ailments and instead take charge of your own life wellness. He walks readers through the genes that are key to our physical and mental fitness and longevity, the genesis of those genes, and how actions play a role in the expression of genes in our bodies. Each chapter concludes with practical and easily implemented actions that help readers start managing their daily wellbeing and encourages them to personalize his steps for their own bodies and lifestyles. Dr. Paul has been recognized for his thought leadership, compassion, and entrepreneurialism. In addition to his busy skin surgery schedule, he offers 7,000 free skin cancer checks every year and even invented a skin graft technique that reduces costs and healing time for patients. With The Genetics of Health, he offers the knowledge and the guidance for readers to personally take charge of reducing their own healthcare costs and sick days, and to seize the healthiest life possible"--

Predictive medicine is the most exciting—and potentially groundbreaking—medical development in decades. Written by Brandon Colby, MD, a leader in the fields of predictive medicine and genetic testing, Outsmart Your Genes will empower you, the reader, with a clear understanding of exactly what predictive medicine entails and how it can be used today to protect your health as well as the health of those you love. Written in straightforward, nontechnical language, Outsmart Your Genes enables everyone, even those without any background in genetics or medicine, to understand the benefits of predictive medicine. Separating myth from fact and answering all the tough questions, Outsmart Your Genes clearly explains: How the revolutionary new medical specialty called predictive medicine analyzes your genes and provides you with clear solutions to protect your health and wellbeing. What the process will entail and how simple it is. For example, the process doesn’t even require blood or use needles – instead, all that’s needed in order to run the analysis is a small amount of your saliva. What your genes can reveal about your overall health and how we can use that information to provide you with a genetically tailored plan for preventing cancer, Alzheimer's, heart disease, obesity, and many other conditions. As opposed to just generalities, specific examples are given so that you’ll know exactly how medicine will improve your life. The many ways in-which learning about your genes can help you formulate a genetically tailored nutrition and athletic plan that may help you shed those extra pounds and stay trim and fit. How predictive medicine can help both prospective and current parents protect their children against SIDS and also help minimize the impact of and most effectively treat many other childhood diseases such as autism, asthma, dyslexia, obesity, and diabetes. Why analyzing your children’s genes may provide the best chance they have to fight against diseases that may not affect them until later in life, including Alzheimer’s, many forms of cancer (such as breast cancer and skin cancer), multiple sclerosis, and even hearing loss. How groundbreaking advancements in the fields of genetic analysis, including predictive medicine panels and disease matrix technology, allow you and your physician to avoid information overload and focus only on the information most relevant to you. The important concepts you need to understand before speaking with a doctor. The top five questions you need to ask in order to assess: The credibility of the laboratory doing the testing. The types of diseases included in the test. How thoroughly the test actually evaluates your risk for each of the diseases. Whether the information is provided in a way that makes it actionable. Whether the results will be delivered in a format that is straightforward and easy to understand.