Sign-In
Cart
Genetic Testing for Rare Diseases
Hardcover
ISBN13: 9783036537283
Publisher: Mdpi AG
Published: Mar 31 2022
Pages: 146
Weight: 1.14
Height: 0.56 Width: 6.69 Depth: 9.61
Language: English
Rare diseases, or orphan diseases, are those that individually affect a small number of patients, but taken together affect over 300 million people worldwide. They are characterized by their etiological, diagnostic and evolutionary complexity, important morbi-mortality, with high levels of disability that entail and hinder the development of a normal vital subject, not only in those who suffer from them, but also their families; therefore, a comprehensive social health approach is necessary to address this problem.
About 80% of rare diseases have a genetic origin, mainly monogenic; thus, genetic testing is mandatory for the confirmation of clinical diagnostics and to ensure correct genetic counseling.
Next-generation sequencing (NGS) has enabled a revolution in genetic diseases, specially in rare diseases. However, their complexity makes diagnoses difficult even with the advent of NGS.
In this Special Issue, we present several examples of the complexity of genetic diagnosis for most of these diseases and the consequences that genetic testing implies for genetic counseling. There are examples of the genetic heterogeneity of hearing loss, some metabolic and lisosomal disorders, ataxia, Prader-Willi syndrome, and three comprehensive reviews on syndromic retinal dystrophies, the complexity of the molecular diagnosis of neuromuscular disorders, and the value of genetic counseling before and after a genetic test.
Also in
Medical Reference
The Spirit Catches You and You Fall Down: A Hmong Child, Her American Doctors, and the Collision of Two Cultures
Fadiman, Anne
Paperback
The Immune Mystery: A Doctor's Impassioned Quest to Solve the Puzzle of Autoimmune Disease
Dr Kåss, Anita
Jelstad, Jørgen
Hardcover
Holistic Reflexology: Essential Oils and Crystal Massage in Reflex Zone Therapy
Kliegel, Ewald
Paperback
Being Well (Even When You're Sick): Mindfulness Practices for People with Cancer and Other Serious Illnesses
Rosenbaum, Elana
Paperback
The Body Keeps the Score: Brain, Mind, and Body in the Healing of Trauma
Van Der Kolk, Bessel
Paperback
Working The Roots: Over 400 Years of Traditional African American Healing
Lee, Michele Elizabeth
Paperback
The Hunger Code: Resetting Your Body's Fat Thermostat in the Age of Ultra-Processed Food
Fung, Jason
Hardcover
Integrating a Palliative Approach Workbook 2nd Edition, Revised: Essentials For Personal Support workers
Murray, Katherine
Paperback
Cialis & Men's Sexual Health: Understanding Tadalafil and Erectile Dysfunction
Stilton, John P.
Paperback
Food Is Medicine: Healing Our Bodies, Nourishing Our Minds, and Transforming Our Food System
Mozaffarian, Dariush
Hardcover
All Creatures Great and Small: The Warm and Joyful Memoirs of the World's Most Beloved Animal Doctor
Herriot, James
Paperback
Unlearn Your Pain: The Science of Recovering from Chronic Pain, Fatigue, Anxiety, and Depression
Schubiner, Howard, MD
Hardcover
THE DYSAUTONOMIA PROJECT Second Edition
Thompson, Charles R.
Freeman, Kelly
Goldstein, David S.
Paperback
Anatomy Coloring Book with 450+ Realistic Medical Illustrations with Quizzes for Each
Wise, Eric
McCann, Stephanie
Paperback
Jesus & Your Mental Health: Linking God's Word and Modern Science to Find Peace about Mental Health
Maxwell Lmft, Rebecca
Paperback
You've Been Pooping All Wrong: How to Make Your Bowel Movements a Joy
Pasricha, Trisha, MD MPH
Hardcover
How to Forage for Mushrooms Without Dying: An Absolute Beginner's Guide to Identifying 29 Wild, Edible Mushrooms
Hyman, Frank
Paperback
The 36-Hour Day: A Family Guide to Caring for People with Alzheimer Disease, Other Dementias, and Memory Loss
Rabins, Peter V.
Mace, Nancy L.
Paperback
The Mindful Self-Compassion Workbook: A Proven Way to Accept Yourself, Build Inner Strength, and Thrive
Neff, Kristin
Germer, Christopher
Paperback
Living Life to the Fullest with Ehlers-Danlos Syndrome: Guide to Living a Better Quality of Life While Having EDS
Muldowney Pt, Kevin
Muldowney Pt, Kathleen
Hardcover
Period Repair Manual: Natural Treatment for Better Hormones and Better Periods
Briden Nd, Lara
Paperback
The Invincible Brain: The Clinically Proven Plan to Age-Proof Your Brain and Stay Sharp for Life
Fotuhi, Majid
Hardcover
Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, Text Revision (Dsm-5-Tr(r))
American Psychiatric Association
Paperback
The Breast Advice: All You Need to Know about Breast Health, Screening, and Treatment
Port, Elisa
Hardcover
Mayo Clinic Guide to a Healthy, Happy Heart: Simple Steps to Achieving Long-Term Cardiovascular Health
Lerman, Amir
Lara-Breitinger, Kyla M.
Lopez-Jimenez, Francisco
Hardcover
Taking Charge of Adult ADHD: Proven Strategies to Succeed at Work, at Home, and in Relationships
Barkley, Russell A.
Paperback
Think Less, Sleep More: From Panic & Perfectionism to Stress-Free Sleep
Romiszewski, Stephanie
Hardcover
The Ultimate Survival Medicine Guide: Emergency Preparedness for Any Disaster
Alton, Joseph
Alton, Amy
Paperback
Trauma and Recovery: The Aftermath of Violence---From Domestic Abuse to Political Terror
Herman, Judith Lewis
Paperback
Other Minds: The Octopus, the Sea, and the Deep Origins of Consciousness
Godfrey-Smith, Peter
Paperback
Plant Powered Plus: Activate the Power of Your Gut to Tame Inflammation and Reclaim Your Health
Bulsiewicz, Will
Hardcover
El Cuerpo Lleva La Cuenta: Cerebro, Mente Y Cuerpo En La Superación del Trauma / The Body Keeps the Score
Van Der Kolk, Bessel
Paperback
The New Menopause: Navigating Your Path Through Hormonal Change with Purpose, Power, and Facts
Haver, Mary Claire
Hardcover
Nolo's Guide to Social Security Disability: Getting & Keeping Your Benefits
Morton III, David A.
Paperback
Cancer Is a Parasite: Kill It with the Safe, Over-The-Counter Antiparasitic Fenbendazole
Supple, William F., Jr.
Hardcover
Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, Text Revision (Dsm-5-Tr(r))
American Psychiatric Association
Hardcover
No One's Coming: The Rogue Heroes Our Government Turns to When There's Nowhere Else to Turn
Hazzard, Kevin
Hardcover
The Flying Death: Poison, Plunder, and the Quest for a Miracle Medicine in the Amazon
O'Hara, Matt
Hardcover
Spiritual Portraits of the Energy Release Points: A Compendium of Acupuncture Point Messages Found Within the 12 Meridians and 8 Extraordinary Vessels
Gervais, Michele Marie
Paperback
Stay Off My Kitchen Table: A Heart Surgeon's 4-Week Elimination Diet for Gut Repair, Metabolic Health, and Longevity
Ovadia, Philip
Lisec, Joshua
Paperback
Desk Reference to the Diagnostic Criteria from Dsm-5-Tr(r)
American Psychiatric Association
Paperback
Medicare 101: From Your Initial Enrollment Period to Parts A, B, C, and D, an Essential Primer on the Government Healthcare Program
Lankford, Kimberly
Hardcover
This Book May Cause Side Effects: The Curious and Dangerous Power of the Nocebo Effect, Placebo's Evil Twin
Pilcher, Helen
Hardcover
The Boy Who Was Raised as a Dog: And Other Stories from a Child Psychiatrist's Notebook--What Traumatized Children Can Teach Us about Loss, Love, and
Szalavitz, Maia
Perry, Bruce D.
Paperback
Why We Get Sick: The Hidden Epidemic at the Root of Most Chronic Disease--And How to Fight It
Bikman, Benjamin
Paperback
What Happened to You?: Conversations on Trauma, Resilience, and Healing
Perry, Bruce D., M. D. PH. D.
Winfrey, Oprah
Hardcover
The Great Shadow: A History of How Sickness Shapes What We Do, Think, Believe, and Buy
Bauer, Susan Wise
Hardcover
Harrison's Guide to Inpatient Medicine: Common Internal Medicine Diseases and Workups
Edwards, Mitchell
Longo, Dan L.
Fauci, Anthony S.
Hardcover
God's Hotel: A Doctor, a Hospital, and a Pilgrimage to the Heart of Medicine
Sweet, Victoria
Paperback
Medical Terminology Made Simple: Easily Learn, Memorize, and Pronounce Medical Terms
Temple, John, MD
Paperback
The Cortisol Cure: The Secret to Resetting Your Stress Response, Boosting Energy & Feeling Better Than Ever
Kinney, Erin
Hardcover
Current Medical Diagnosis & Treatment 2027
Rabow, Michael W.
McQuaid, Kenneth R.
Papadakis, Maxine A.
Hardcover
Medical Apartheid: The Dark History of Medical Experimentation on Black Americans from Colonial Times to the Present
Washington, Harriet A.
Paperback
Curved Air: A Biography of Sickle Cell Anemia and the Quest to Cure the First Molecular Disease
Davies, Kevin
Hardcover
The Cost of Care: How Four Nurses Put Patients First in a Profit-Driven System
Brown, Theresa
Hardcover
Cure Your Fatigue, Second Edition: The Root Cause and How to Fix It on Your Own
Robbins, Morley M.
Paperback
How to Forage for Medicinal Plants Without Dying: An Absolute Beginner's Guide to Identifying 32 Healing Wild Herbs
Ruiz, Brandon
Paperback
The Spirit Catches You and You Fall Down: A Hmong Child, Her American Doctors, and the Collision of Two Cultures
Fadiman, Anne
Paperback
Fenbendazole & Ivermectin Protocols Handbook: A Definitive Guide on Treatment of Cancer for Patients and Caregivers
Willmott, Sebastian
Paperback
Child Medication Fact Book for Psychiatric Practice, Second Edition
Feder, Joshua D.
Puzantian, Talia
Tien, Elizabeth
Paperback
The Lithium Revolution: Optimizing Mood, Memory, and Lifelong Brain Health With Nutritional Lithium
Greenblatt, James
Paperback
Destiny of the Republic: A Tale of Madness, Medicine and the Murder of a President
Millard, Candice
Paperback
How to Change Your Mind: What the New Science of Psychedelics Teaches Us about Consciousness, Dying, Addiction, Depression, and Transcendence
Pollan, Michael
Paperback
Desk Reference to the Diagnostic Criteria from Dsm-5-Tr(r)
American Psychiatric Association
Paperback
The Dementia Care Toolkit: Real Help for Challenging Behaviors and Caregiving Overwhelm
Edmonds, Natali N.
Paperback
Good Moms Have Scary Thoughts: A Healing Guide to the Secret Fears of New Mothers
Kleiman, Karen
Hardcover
The Obesity Code: Unlocking the Secrets of Weight Loss (Why Intermittent Fasting Is the Key to Controlling Your Weight)
Fung, Jason
Paperback
What Happened to You?: Conversations on Trauma, Resilience, and Healing
Winfrey, Oprah
Perry, Bruce D., M. D. PH. D.
Paperback
Nursing School Entrance Exams Prep: Your All-In-One Guide to the Kaplan and Hesi Exams
Kaplan Nursing
Paperback
American Sirens: The Incredible Story of the Black Men Who Became America's First Paramedics
Hazzard, Kevin
Paperback
The Other Side of the Straitjacket: A Daughter's Story of Mental Illness and Assisted Dying
Duncan, Alicia
Paperback
The Practical Science of Herbs: An Evidence-Backed Guide to 50 Therapeutic Herbs and How to Use Them
Hill-Hart, Aisha
Paperback
Indoor Epidemic: 93% Inside Steals Sleep, Focus & Years-The 7% Outdoor Rx Restores Them
La Puma, John
Paperback
Hidden Epidemic: Silent Oral Infections Cause Most Heart Attacks and Breast Cancers
Levy, Jd
Paperback
The Doctors' Riot of 1788: Body Snatching, Bloodletting, and Anatomy in America
McPhee, Andy
Hardcover
Shoulder Pain? The Solution & Prevention: Fifth Edition, Revised & Expanded
Kirsch, John M.
Paperback
A Gentle Path Through the Twelve Steps: The Classic Guide for All People in the Process of Recovery
Carnes, Patrick J.
Paperback
Clinical Reasoning: Coaching the Struggling Medical Learner
Parsons, Andrew S.
Warburton, Karen M.
Paperback
Menopause: What Your Ob-GYN Wants You to Know
Obstetricians and Gynecologists, American College of
Paperback
Gut and Psychology Syndrome: Natural Treatment for Autism, Dyspraxia, A.D.D., Dyslexia, A.D.H.D., Depression, Schizophrenia, 2nd Edition
Campbell-McBride, Natasha, MD
Paperback
The Quantum Power of GLP-1 Peptides: Unlocking the Science that Leads to Lasting Weight Loss and Optimal Healthspan
Seeds, William A.
Paperback