Rare Genetic Disorders (eBook, PDF)

This book introduces different Rare Genetic Disorders (RGDs), and challenges in their diagnosis. The chapters of the book discuss the emerging research and clinical approaches for the diagnosis of rare genetic disorders. It further reviews the future of genetic therapies for the treatment of rare genetic diseases and examine the recent advancements in the field of genetic testing for the diagnosis of these diseases. The book also covers the role of variants in the genome (genetic modifiers) that alleviate (suppress) or exacerbate (enhance) the severity of the disease, resulting in the variabil...

Weiterlesen / Aufklappen

Dieser Download kann aus rechtlichen Gründen nur mit Rechnungsadresse in A, B, BG, CY, CZ, D, DK, EW, E, FIN, F, GR, HR, H, IRL, I, LT, L, LR, M, NL, PL, P, R, S, SLO, SK ausgeliefert werden.

Geräte: PC
ohne Kopierschutz
eBook Hilfe
Größe: 10.02MB

Barrierefreiheit

Text-to-Speech
E-Mail des Verlags für Barrierefreiheitsfragen: accessibilitysupport@springernature.com
Alle Inhalte über Screenreader oder taktile Geräte zugänglich
Navigation über vor-/zurück-Elemente ohne Inhaltsverzeichnis
Hoher Kontrast zwischen Text und Hintergrund (min. 4.5 =>1)
Inhalte verständlich ohne Farbwahrnehmung
Kurze Alternativtexte für nicht-textuelle Inhalte vorhanden
Text und Medien in logischer Lesereihenfolge angeordnet
Navigierbares Inhaltsverzeichnis für direkten Zugriff auf Text und Medien
Keine Einschränkung der Vorlesefunktionen, außer bei spezifischen Ausnahmen

Dr. Muhammad Umair currently holds the position of associate research scientist and serves as the team leader of functional studies at the Medical Genomics Research Department within the King Abdullah International Medical Research Center (KAIMRC), part of King Saud bin Abdulaziz University for Health Science, Ministry of National Guard-Health Affairs (MNGHA) in Riyadh, Saudi Arabia. Additionally, he serves as a "research advisor" at the department of life sciences within the School of Science at the University of Management and Technology (UMT) in Lahore, Pakistan. Dr. Umair is a molecular geneticist with a particular focus on rare genetic disorders (RGDs). His research involves multiple projects dedicated to rare genetic disorders and therapeutic genetics. He is currently engaged in research initiatives such as the Genetics and Rare Disease Program, Genetic and Functional Characterization of Rare Skeletal Disorders (GSDs), Genodermatosis, Preventative Genome Medicine for Inherited Genetic Disorders, Functional Characterization of Genes Associated with Neurodevelopmental Disorders (NDDs), Genetic and Rare Disease Registry, and Therapeutic Genomics. Dr. Umair earned his M.Sc., M.Phil, and Ph.D. in Biochemistry/Molecular Biology, specializing in Human Molecular Genetics, from Quaid-i-Azam University in Islamabad, Pakistan. He has published various research articles. Dr. Umair was honored with the 2nd Dr. Sajjad Aslam Shami Gold Medal in Genetics by the Applied Zoological Society of Pakistan (AZSP) in March 2021. Dr. Misbahuddin Rafeeq holds the position of Associate Professor at the Faculty of Medicine (Rabigh) within King Abdulaziz University, Jeddah, Saudi Arabia. He is a distinguished physician, accomplished scientist, and dedicated medical educator. He earned his MBBS and MD degrees in 2009 from Aligarh Muslim University, India. . Dr. Rafeeq is an esteemed member of the editorial boards of several reputable journals. His outstanding contributions have earned him several prestigious awards, including the Excellent Leadership Award from the Islamic Development Bank in Saudi Arabia, the ESP fellowship from NIHES in the Netherlands, the Distinguished Achievement Award from KAU in Saudi Arabia, and the Bronze Prize from the Diabetic Congress in the USA. Dr. Rafeeq is affiliated with esteemed organizations and scientific societies, including RCPEdin and the Faculty of Pharmaceutical Medicine at RCP London, ACCP and ASPET in the USA, ISoP, and the Royal Society of Medicine in the UK. His research primarily focuses on the identification of novel genetic mutations in hereditary syndromes, the exploration of novel therapeutic targets and proteins through molecular docking, PK/PD, and toxicity studies, the study of the effects of natural compounds on animal models, and the broader field of lipid pharmacogenomics. Dr. Qamre Alam currently serves as a medical research scientist and laboratory supervisor atthe Molecular Genomics and Precision Medicine Department of ExpressMed Diagnostics and Research, located in Zinj, Kingdom of Bahrain. Previously, from 2019 to 2022, he held the position of Medical Research Scientist at the Medical Genomics Research Department at King Abdullah International Medical Research Center (KAIMRC), part of King Saud bin Abdulaziz University for Health Science, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, KSA. Prior to that, he worked as a lecturer from 2011 to 2019 at the King Fahd Medical Research Center, King Abdulaziz University, Jeddah, KSA. Dr. Qamre Alam earned his M.Sc. from Jamia Hamdard University, New Delhi, India, and his Ph.D. in Biotechnology from JJTU, Rajasthan, India. He has published various research articles in the fields of human genetics and cancer biology. Dr. Alam is a molecular geneticist with a strong research interest in rare genetic disorders. He has actively contributed to various projects related to rare genetic disorders and preventive genomic medicine, including Non-Invasive Prenatal Testing (NIPT) and Preimplantation Genetic Screening (PGS). Additionally, he serves as an Associate Editor and reviewer for several international peer-reviewed journals of high repute.

Produktdetails