Libri: "Rare genetic disease"

1

G, Thoene Jess, a cura di. Small molecule therapy for genetic disease. Cambridge: Cambridge University Press, 2010.

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2

Dimond, Rebecca, e Jamie Lewis. Analysing Semi-Structured Interviews: Understanding Family Experience of Rare Disease and Genetic Risk. 1 Oliver's Yard, 55 City Road, London EC1Y 1SP United Kingdom: SAGE Publications, Ltd., 2015. http://dx.doi.org/10.4135/9781473947467.

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3

Hodge, Russ. Human genetics: Race, population, and disease. New York, NY: Facts on File, 2010.

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4

Martín, Javier, e Francisco David Carmona, a cura di. Genetics of Rare Autoimmune Diseases. Cham: Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-03934-9.

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5

Chin, Nguk Foo. Rare journeys of love. Petaling Jaya, Selangor: Malaysian Rare Disorders Society, 2011.

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6

Aymé, S. Les injustices de la naissance. Paris: Hachette, 2000.

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7

Bowman, James E. Genetic variation and disorders in peoples of African origin. Baltimore: Johns Hopkins University Press, 1990.

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8

National Cancer Institute (U.S.). Clinical Genetics Branch. Inherited bone marrow failure syndromes: Studying families with rare blood disorders and risk of cancer. Bethesda, Md.]: U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, National Cancer Institute, Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, 2002.

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9

Congress, on Rare Diseases (2000 Rome Italy). Il Congress on Rare Diseases: Genetic disorders related to dysfunction of cellular organelles : Istituto superiore di sanità : Roma, November 20-22, 2000 : abstract book. Roma: Istituto superiore di sanità, 2000.

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10

Cushing's Disease: An Often Misdiagnosed and Not So Rare Disorder. Elsevier Science & Technology Books, 2016.

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11

Laws, Edward R., e Louise Pace. Cushing's Disease: An Often Misdiagnosed and Not So Rare Disorder. Elsevier Science & Technology Books, 2016.

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12

Cimenian, Shant. My Life, My Victory: Thriving with a Rare Genetic Disease. Cimenian, Shant, 2023.

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Cimenian, Shant. My Life, My Victory: Thriving with a Rare Genetic Disease. Cimenian, Shant, 2023.

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14

Price, Susan. Genetic bone and joint disease. A cura di Patrick Davey e David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0276.

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Genetic conditions affecting the skeleton and supporting structures are individually rare and heterogeneous. This chapter presents an approach to assessing patients with suspected skeletal dysplasia, osteogenesis imperfecta, Marfan syndrome, and Ehlers–Danlos syndrome. Skeletal dysplasias are caused by abnormalities of bone growth and modelling; the commonest non-lethal type is achondroplasia, with an incidence of 1/10 000 to 1/30 000. The typical presentation of osteogenesis imperfecta is with multiple fractures, sometimes prenatally. There may be associated short stature, bone deformity, dentogenesis imperfecta, blue sclera, and hearing loss. Most patients with osteogenesis imperfecta have mutations in COL1A1 or COL1A2. Marfan syndrome is a connective tissue disease with a pattern of symptoms related to the presence of fibrillin in tissues. Typically, affected individuals are of tall, thin stature, with long fingers and toes (arachnodactyly), a pectus deformity, and scoliosis. Between 66% and 91% of individuals with Marfan syndrome have a mutation in fibrillin-1 (FBN1; locus: 15q21). All forms of Ehlers–Danlos syndrome present with variable thinning and fragility of skin, leading to easy bruising and poor scar formation. There is skin and joint laxity. In severe forms, blood vessels and internal organs are affected.

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15

Thoene, Jess G. Small Molecule Therapy for Genetic Disease. Cambridge University Press, 2010.

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16

Thoene, Jess G. Small Molecule Therapy for Genetic Disease. Cambridge University Press, 2010.

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17

Thoene, Jess G. Small Molecule Therapy for Genetic Disease. Cambridge University Press, 2010.

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18

Thoene, Jess G. Small Molecule Therapy for Genetic Disease. Cambridge University Press, 2010.

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19

Graves, Tracey. Neurogenetic disease. A cura di Patrick Davey e David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0223.

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There are many genetic diseases which affect the nervous system. Although some of these are extremely rare, several are quite common and, as a group, they comprise a significant proportion of neurological disease. Almost all clinical neurological syndromes can have a genetic cause. Not all of these have been genetically elucidated, but some have been extensively characterized in terms of clinical phenotype, molecular genetics, and cellular pathophysiology. Given the improvement in laboratory techniques and subsequent reduction in the cost of direct DNA sequencing, there is likely to be a rapid expansion over the next decade in the identification of causative genes and hence the availability of genetic tests. Thus, all clinicians should have a basic understanding about genetic disease; inheritance patterns; availability of genetic tests; genetic counselling; and ethics. Particular subspeciality areas where neurogenetic disease is common include neuromuscular disease and movement disorders.

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20

Davidson, Michael H., Lane Benes e Anthony S. Wierzbicki. Fast Facts : Familial Chylomicronemia Syndrome: Raising Awareness of a Rare Genetic Disease. Karger AG, S., 2021.

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21

Davidson, M. H., L. Benes e A. S. Wierzbicki. Fast Facts : Familial Chylomicronemia Syndrome: Raising Awareness of a Rare Genetic Disease. Karger AG, S., 2021.

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22

Bick, Alexander George. At the Heart of the Genome: Rare Genetic Variation, Cardiovascular Disease, and Therapy. 2014.

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23

Gerald, David. Artificial Intelligence in the Genetic Diagnosis of Rare Disease: Artificial Intelligence in Medicine. Independently Published, 2021.

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24

Kelly, Evelyn B., a cura di. Encyclopedia of Human Genetics and Disease. ABC-CLIO, LLC, 2013. http://dx.doi.org/10.5040/9798400667251.

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This two-volume encyclopedia examines the history, characteristics, causes, and treatment of genetic disease, as well as the science of genetics itself. Modern science has unlocked many of the mysteries of genetics, providing a blueprint for understanding the origins behind previously mysterious ailments and conditions, both common and uncommon. A complete understanding remains elusive, however: geneticists are still refining theories about what causes chromosomes to mutate, and genetic diseases remain difficult to diagnose and challenging to treat. This fascinating reference explores the scientific and human aspects of this complex field of science. Encyclopedia of Human Genetics and Diseasefeatures nearly 400 entries, including well-known genetic diseases, rare and lesser-known genetic diseases, and the genetic factors that may contribute to common diseases and health conditions, such as breast cancer and obesity. The author presents in-depth discussions of concepts essential to understanding genetic disease in 18 entries that provide background on key topics, such as "Genetics 101," the genome and the foundations of genetics, genetic counseling, and newborn screening. Each of the 355 disorders profiled provides the history of the condition, its prevalence, causes, treatment (if any), and further reading. Interesting sidebars and compelling photos that help inform content accompany many entries.

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25

Wilson’s Disease. Exon Publications, 2024. http://dx.doi.org/10.36255/wilsons-disease.

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Wilson’s Disease is a rare genetic disorder that disrupts the body’s ability to eliminate excess copper, leading to harmful accumulations in organs such as the liver, brain, and eyes. This article serves as a comprehensive guide, providing clear and detailed information for patients, families, and caregivers. It begins by explaining what Wilson’s Disease is and the role of the ATP7B gene in causing the condition. The article explores its prevalence, types, and inheritance patterns, highlighting the importance of genetic testing and family screening. The article discusses the wide range of symptoms, from liver damage and neurological issues to the characteristic Kayser-Fleischer rings in the eyes. It explains the diagnostic process, including blood tests, eye exams, and genetic analysis, which help confirm the condition. Treatment options such as chelation therapy with drugs like penicillamine (Cuprimine) or trientine (Syprine), zinc acetate (Galzin), and dietary changes are explored in depth. The article also addresses the prognosis and offers practical advice for living with Wilson’s Disease, emphasizing the importance of regular medical care and emotional support. Written in straightforward language, this book ensures that all readers can understand and apply the information to navigate life with Wilson’s Disease effectively.

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Fabry Disease. Exon Publications, 2024. http://dx.doi.org/10.36255/fabry-disease.

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Fabry Disease is a rare genetic disorder that affects the body’s ability to break down specific fatty substances, leading to their buildup in various organs, including the heart, kidneys, and nervous system. This article serves as a comprehensive guide to understanding the disease, providing detailed information on its causes, symptoms, and treatment options. It begins by explaining the condition and its genetic basis, focusing on the role of the GLA gene and the enzyme alpha-galactosidase A. The article discusses the types of Fabry Disease, highlighting differences in severity and onset, and provides a thorough overview of symptoms that range from pain and skin lesions to organ complications. The article explains how Fabry Disease is diagnosed through clinical evaluations and genetic testing and explores available treatments such as enzyme replacement therapy and chaperone therapy with examples like agalsidase beta (Fabrazyme) and migalastat (Galafold). It also offers insights into the prognosis and practical advice for living with the condition, emphasizing the importance of early diagnosis and ongoing care. Organized to provide a clear understanding of each aspect of the disease, this article ensures that all information is presented in simple, accessible language, making it easy for readers to understand and apply.

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Tay-Sachs Disease. Exon Publications, 2024. http://dx.doi.org/10.36255/tay-sachs-disease.

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Tay-Sachs Disease is a rare genetic disorder that causes progressive damage to the nervous system, primarily affecting infants and young children. This article begins by explaining the genetic cause of the disease, which involves mutations in the HEXA gene leading to the absence of beta-hexosaminidase A, an enzyme essential for breaking down fatty substances in the brain. It describes the symptoms of the condition, including developmental delays, muscle weakness, vision and hearing loss, and seizures. The diagnostic process is explained, highlighting the role of enzyme testing, genetic analysis, and prenatal testing for families with a history of Tay-Sachs. The article also discusses current treatment options, such as anticonvulsants for seizure management and supportive therapies to improve comfort and quality of life. Advances in research, including gene therapy and other emerging treatments, are explored to provide hope for future interventions. The article offers practical guidance for families and caregivers, addressing the emotional and logistical challenges of living with Tay-Sachs. Designed to answer common questions and provide clear, actionable information, this book is a comprehensive resource for understanding Tay-Sachs Disease. The content is written in simple terms to ensure it is accessible and easy to understand for all readers.

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28

Albin, Roger L., e Henry L. Paulson. Huntington Disease. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0007.

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A member of the expanded polyglutamine (polyQ) repeat family of neurodegenerative disorders, Huntington disease (HD) is a rare, autosomal, dominantly inherited neuropsychiatric disorder. Characterized by midlife onset, HD exhibits progressive motor, behavioral, and cognitive changes. There is no effective treatment and death usually ensues 15 to 20 years after diagnosis. The expanded polyglutamine repeat causes multiple cellular dysfunctions to induce neurodegeneration. Many brain regions are affected in HD though striatal degeneration is particularly prominent. Widespread availability of specific genetic testing facilitates diagnosis. Management is largely supportive care.

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29

Kane, Taylor. Rare Like Us: From Losing My Dad to Finding Myself in a Family Plagued by Genetic Disease. BookBaby, 2019.

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30

Grace, Rachael. Fast Facts : Pyruvate Kinase Deficiency for Patients and Supporters: A Rare Genetic Disease That Affects Red Blood Cells. Karger AG, S., 2019.

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31

Artificial Intelligence in the Genetic Diagnosis of Rare Disease: Genomics and Personalized Medicine What Everyone Needs to Know. Independently Published, 2021.

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32

Dukhovny, Stephanie. Prenatal Genetics for Women with Neurology Disease. A cura di Emma Ciafaloni, Cheryl Bushnell e Loralei L. Thornburg. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190667351.003.0006.

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The genetic evaluation of heritability of genetic disease, as well as screening of the fetus for neurologic diseases, have evolved a great deal since the 1970s. Screening and diagnostic evaluation now includes the ability to detect fetuses with anatomic abnormalities of the central nervous system and rare autosomal recessive disorders with neurologic features. Preimplantation genetic diagnosis now allows families with confirmed genetic abnormalities to utilize in vitro fertilization technologies to avoid affected pregnancies. For families that have not received a prenatal diagnosis, newborn screening allows for detection of diseases with potential neurologic implications in the child’s early newborn period.

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33

Waldek, Stephen. Fabry disease. A cura di Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0337.

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Fabry disease is a rare X-linked lysosomal storage disorder in which deficiency of alpha-galactosidase A leads to accumulation of substrate, mostly globotriaosylceramide, which causes a progressive, multiorgan disease affecting predominantly the kidneys, skin, heart, and nervous system. Painful peripheral (‘acral’) neuropathy is characteristic.Key clinical signs are angiokeratoma found by close examination of skin; characteristic eye lesions may be seen; lipid deposits may be seen in urine. Renal biopsy appearances are characteristic and this is commonly where the diagnosis is first made. Increasingly, cardiologists are suspecting the condition in adults with echocardiographic appearances of left ventricular hypertrophy. Diagnosis in men is usually made by measurement of alpha-galactosidase in either white cells or plasma (or using blood spots). Unfortunately, many female patients can have normal enzyme levels so that genetic testing is the only way to confirm a diagnosis. Non-selective screening strategies (e.g. males on renal replacement therapy with uncertain renal diagnoses) have had low yields.

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34

Bentham, James R. The genetics of congenital heart disease. A cura di José Maria Pérez-Pomares, Robert G. Kelly, Maurice van den Hoff, José Luis de la Pompa, David Sedmera, Cristina Basso e Deborah Henderson. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198757269.003.0022.

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Congenital heart disease (CHD) is defined as a structural cardiac malformation resulting from an abnormality of development; 8% of CHD is inherited in a Mendelian fashion and 12% results from chromosomal imbalance. Recurrence risk and new research suggest that even the remaining 80% of patients without an identifiable familial or syndromic basis for disease may have an identifiable genetic cause. The potential to understand these mechanisms is increasing with the advent of new sequencing techniques which have identified multiple or single rare variants and/or copy number variants clustering in cardiac developmental genes as well as common variants that may also contribute to disease, for example by altering metabolic pathways. Work in model organisms such as mouse and zebrafish has been pivotal in identifying CHD candidate genes. Future challenges involve translating the discoveries made in mouse models to human CHD genetics and manipulating potentially protective pathways to prevent disease.

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Waldek, Stephen. Fabry disease. A cura di Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0335_update_001.

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Fabry disease is a rare X-linked disorder of glycosphingolipid metabolism caused by a deficiency of the lysosomal acid hydrolase enzyme, alpha-galactosidase A. The resulting accumulation of substrate, mostly globotriaosylceramide, leads to a progressive, multiorgan disease affecting predominantly the kidneys, skin, heart, and nervous system. It is one of over 50 lysosomal storage diseases. It is typically diagnosed in young men after many years of ‘acral pain’ syndrome, when the diagnosis is made through identification of characteristic abnormalities of skin, kidney or heart, or of other organs. Renal failure has been a common outcome. Females may also develop manifestations, usually later in life. Renal biopsy shows vacuoles/deposits in podocytes and other renal cell types with progressive scarring. The diagnosis can be made by measuring enzyme levels in men, or by genetic testing. This latter is the more reliable test in women. Fabry disease can now be treated where affordable by regular (every 2 weeks) intravenous infusions of recombinant preparations of the deficient enzyme. These are burdensome and expensive, but are transforming the outlook for the condition.

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Niaudet, Patrick, e Alain Meyrier. Minimal change disease. A cura di Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0055_update_001.

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Minimal change disease is the most common cause of nephrotic syndrome in childhood but is not rare in adults. The factors altering permeability of the glomerular filtration barrier are not known, but podocyte structure is significantly altered in the condition and it seems certain that this cell is the target of whatever factors are responsible for the condition. It is still not clear that it is immunologically mediated and many of the agents used to treat it have direct effects on the podocyte. The differential diagnosis includes any other disease causing nephrotic syndrome, and a renal biopsy narrows this down. In children, steroid unresponsiveness is often used as a diagnostic test, and consideration of genetic or other pathologies reserved for patients who show no or poor steroid responsiveness.

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37

Cazeneuve, Cécile, e Alexandra Durr. Genetic and Molecular Studies. Oxford University Press, 2014. http://dx.doi.org/10.1093/med/9780199929146.003.0006.

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Huntington’s disease (HD) is a rare inherited neurologic disorder due to a single mutational mechanism in a large gene (HTT). The mutation is an abnormal CAG repeat expansion, which is translated to a polyglutamine stretch in the huntingtin protein. The growing field of repeat expansion disorders benefits greatly from the lessons learned from the role of the CAG repeat expansion in HD and its resulting phenotype–genotype correlations. The molecular diagnosis can be difficult, and there are some pitfalls for accurate sizing of the CAG repeat, especially in juvenile HD and for intermediate alleles. Correlation between CAG length and age of onset accounts for up to 72% of the variance in different populations, but the search for genes modifying age of onset or progression of HD is still ongoing.

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38

Ralston, Stuart H. Paget’s disease of bone. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0144.

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Paget's disease of bone (PDB) affects up to 1% of people of European origin aged 55 years and above. It is characterized by focal abnormalities of bone remodelling which disrupt normal bone architecture, leading to expansion and reduced mechanical strength of affected bones. This can lead to various complications including deformity, fracture, nerve compression syndromes, and osteoarthritis, although many patients are asymptomatic. Genetic factors play a key role in the pathogenesis of PDB. This seems to be mediated by a combination of rare genetic variants which cause familial forms of the disease and common variants which increase susceptibility to environmental triggers. Environmental factors which have been suggested to predispose to PDB include viral infections, calcium and vitamin D deficiency, and excessive mechanical loading of affected bones. The diagnosis can be made by the characteristic changes seen on radiographs, but isotope bone scans are helpful in defining disease extent. Serum alkaline phosphatase levels can be used as a measure of disease activity. Inhibitors of bone resorption are the mainstay of medical management for PDB and bisphosphonates are regarded as the treatment of choice. Bisphosphonates are highly effective at reducing bone turnover in PDB and have been found to heal osteolytic lesions, and normalize bone histology. Although bisphosphonates can improving bone pain caused by elevated bone turnover, most patients require additional therapy to deal with symptoms associated with disease complications. It is currently unclear whether bisphosphonate therapy is effective at preventing complications of PDB.

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Ralston, Stuart H. Paget’s disease of bone. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199642489.003.0144_update_001.

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Paget’s disease of bone (PDB) affects up to 1% of people of European origin aged 55 years and above. It is characterized by focal abnormalities of bone remodelling which disrupt normal bone architecture, leading to expansion and reduced mechanical strength of affected bones. This can lead to various complications including deformity, fracture, nerve compression syndromes, and osteoarthritis, although many patients are asymptomatic. Genetic factors play a key role in the pathogenesis of PDB. This seems to be mediated by a combination of rare genetic variants which cause familial forms of the disease and common variants which increase susceptibility to environmental triggers. Environmental factors which have been suggested to predispose to PDB include viral infections, calcium and vitamin D deficiency, and excessive mechanical loading of affected bones. The diagnosis can be made by the characteristic changes seen on radiographs, but isotope bone scans are helpful in defining disease extent. Serum alkaline phosphatase levels can be used as a measure of disease activity. Inhibitors of bone resorption are the mainstay of medical management for PDB and bisphosphonates are regarded as the treatment of choice. Bisphosphonates are highly effective at reducing bone turnover in PDB and have been found to heal osteolytic lesions, and normalize bone histology. Although bisphosphonates can improving bone pain caused by elevated bone turnover, most patients require additional therapy to deal with symptoms associated with disease complications. It is currently unclear whether bisphosphonate therapy is effective at preventing complications of PDB.

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40

Lupski, James R., e Claudia Gonzaga-Jauregui. Genomics of Rare Diseases: Understanding Rare Disease Genetics Through Genomic Approaches. Elsevier Science & Technology Books, 2021.

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41

Lupski, James R., e Claudia Gonzaga-Jauregui. Genomics of Rare Diseases: Understanding Rare Disease Genetics Through Genomic Approaches. Elsevier Science & Technology, 2021.

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42

Genetic Testing for Rare Diseases. MDPI, 2022. http://dx.doi.org/10.3390/books978-3-0365-3727-6.

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Martín, Javier, e Francisco David Carmona. Genetics of Rare Autoimmune Diseases. Springer, 2019.

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44

Lewis, Myles, e Tim Vyse. Genetics of connective tissue diseases. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0042.

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The advent of genome-wide association studies (GWAS) has been an exciting breakthrough in our understanding of the genetic aetiology of autoimmune diseases. Substantial overlap has been found in susceptibility genes across multiple diseases, from connective tissue diseases and rheumatoid arthritis (RA) to inflammatory bowel disease, coeliac disease, and psoriasis. Major technological advances now permit genotyping of millions of single nucleotide polymorphisms (SNPs). Group analysis of SNPs by haplotypes, aided by completion of the Hapmap project, has improved our ability to pinpoint causal genetic variants. International collaboration to pool large-scale cohorts of patients has enabled GWAS in systemic lupus erythematosus (SLE), systemic sclerosis and Behçet's disease, with studies in progress for ANCA-associated vasculitis. These 'hypothesis-free' studies have revealed many novel disease-associated genes. In both SLE and systemic sclerosis, identified genes map to known pathways including antigen presentation (MHC, TNFSF4), autoreactivity of B and T lymphocytes (BLK, BANK1), type I interferon production (STAT4, IRF5) and the NFκ‎B pathway (TNIP1). In SLE alone, additional genes appear to be involved in dysregulated apoptotic cell clearance (ITGAM, TREX1, C1q, C4) and recognition of immune complexes (FCGR2A, FCGR3B). Future developments include whole-genome sequencing to identify rare variants, and efforts to understand functional consequences of susceptibility genes. Putative environmental triggers for connective tissue diseases include infectious agents, especially Epstein-Barr virus; cigarette smoking; occupational exposure to toxins including silica; and low vitamin D, due to its immunomodulatory effects. Despite numerous studies looking at toxin exposure and connective tissue diseases, conclusive evidence is lacking, due to either rarity of exposure or rarity of disease.

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Lysosomal Storage Diseases. Exon Publications, 2024. https://doi.org/10.36255/lysosomal-storage-diseases.

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Lysosomal Storage Diseases are a group of rare genetic disorders that affect the body’s ability to break down and recycle certain materials within cells, leading to their accumulation and progressive organ damage. This article provides a thorough guide to understanding these disorders, covering their causes, symptoms, and treatment options. It begins with an explanation of what Lysosomal Storage Diseases are, detailing how enzyme deficiencies in lysosomes disrupt normal cellular processes. The article explores the genetic basis of these conditions, focusing on their inheritance patterns and the role of specific genes. The guide outlines the different types of Lysosomal Storage Diseases, including Gaucher’s Disease, Fabry Disease, and Tay-Sachs Disease, highlighting how each condition affects the body uniquely. It describes the diagnostic process, including enzyme activity tests and genetic screening, and discusses treatment options such as enzyme replacement therapy, substrate reduction therapy, and emerging gene therapies. Practical advice for living with these conditions is provided, emphasizing the importance of regular medical care, supportive therapies, and emotional support. Organized to deliver clear and comprehensive information, this book ensures readers gain a solid understanding of Lysosomal Storage Diseases and how they can be managed effectively in daily life.

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46

Shaharudin, Shazlin. Genetic Disorders and Rare Diseases: Current Updates. Nova Science Publishers, Incorporated, 2023.

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Shaharudin, Shazlin. Genetic Disorders and Rare Diseases: Current Updates. Nova Science Publishers, Incorporated, 2023.

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48

Orphan: The quest to save children with rare genetic disorders. 2015.

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Syrris, Petros, e Alexandros Protonotarios. Arrhythmogenic right ventricular cardiomyopathy: genetics. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0359.

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Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disorder of the heart muscle which is typically inherited in an autosomal dominant manner. It is believed to be familial in over 50% of cases. A recessive mode of inheritance has also been reported in syndromic cases with cardiocutaneous features. The classic form of the disorder is considered to be ‘a disease of the desmosome’ as pathogenic variants have been identified in five genes encoding key desmosomal proteins: plakoglobin, desmoplakin, plakophilin-2, desmoglein-2, and desmocollin-2. Mutations in these genes account for 30–50% of ARVC cases. A further eight non-desmosomal genes have also been implicated in the pathogenesis of the disorder but only account for rare cases. Studies of patients with ARVC-associated gene mutations have revealed marked genetic heterogeneity and very limited genotype–phenotype correlation. Disease expression often varies significantly amongst individuals carrying the same mutation. It has been proposed that the presence of more than one sequence variant is required to determine overt clinical disease and patients with multiple variants have a more severe phenotype compared to single variant carriers. Identification of a potentially pathogenic variant comprises a major criterion in the diagnosis of ARVC but informative integration of genetic testing into clinical practice remains challenging. Gene testing should be used to identify asymptomatic family members at risk and only aids diagnosis in cases of high suspicion for ARVC, along with other evident features of the disease already present. However, genetic findings should be used with caution in clinical practice and their interpretation must be performed in expert centres.

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Tangen, Catherine M., Marian L. Neuhouser e Janet L. Stanford. Prostate Cancer. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190238667.003.0053.

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Prostate cancer is the most common solid tumor and the second leading cause of cancer-related mortality in American men. Worldwide, prostate cancer ranks second and fifth as a cause of cancer and cancer deaths, respectively. Despite the international burden of disease due to prostate cancer, its etiology is unclear in most cases. Established risk factors include age, race/ancestry, and family history of the disease. Prostate cancer has a strong heritable component, and genome-wide association studies have identified over 110 common risk-associated genetic variants. Family-based sequencing studies have also found rare mutations (e.g., HOXB13) that contribute to prostate cancer susceptibility. Numerous environmental and lifestyle factors (e.g., obesity, diet) have been examined in relation to prostate cancer incidence, but few modifiable exposures have been consistently associated with risk. Some of the variability in results may be related to etiological heterogeneity, with different causes underlying the development of distinct disease subgroups.

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Libri sul tema "Rare genetic disease"

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