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Genetics: Organization and Function of Genes

In the medical field, the topic of Genetics is of significant importance. The topic explains how an organism is able to pass on its characteristics to its offspring. In this article, you will be able to learn about the structure and function of the human gene. Processes such as replication, transcription and translation are also explained in detail to help you get the required insight on what happens in each process. Furthermore, there are a few questions at the end of the article that will help you to test your understanding. You will find the answers to these questions below the references.

Phlebothrombosis and Deep Vein Thrombosis (DVT) — Diagnosis and Classification

Phlebothrombosis is a very common and very serious condition. Blood clots in veins can mobilize and cause significant harm and even death in some cases by blocking downstream vessels. This condition needs to be thought of in all new hospital admissions, especially those who will be particularly immobile or those undergoing operations, so they can be given medical prophylaxis to reduce the chance of a blood clot forming in the venous system.

Gene Mutations and Repair Mechanisms of the Human Cell

Mutations are associated with diseases and defective genes. Mutated genes are actually the cause of many diseases, although they are also necessary. Without permanent change in the genome, evolution is not possible, and purely static DNA would prevent any development. DNA is also the only molecule of the cell that is repaired. The information stored in the DNA is so important that the energy expended by repairing it is worthwhile. The cell must find the correct balance between the loss of evolution by mutation, and evolution by mutation.

DNA Transcription and Translation – From Gene to Protein

Transcription and translation convert a gene into protein. During this process, the genetic information of a gene, the DNA, is converted into RNA so that protein may be realized later on. This article will provide you with exam-related information regarding this process, thus preparing you ideally for the upcoming exams.

Coronary Artery Disease (CAD, Atherosclerotic Heart Disease) — Risk Factors and Prevention

Coronary heart disease (CHD) is the leading cause of death in industrialized countries. Numerous risk factors, which can be reduced through both behavioral and lifestyle changes, as well as drug therapy, are known for its origin.

Biology for Physicians: Formal Genetics and Population Genetics

Mendel’s laws, phenotype and genotype, recessive and dominant. Do these terms sound familiar to you from your biology lessons? This article regarding formal genetics will introduce you to all important genetic fundamentals regarding biology that you need to know as a physician. By studying and revising the contents of this article, you will be in a better position to do well both in your preclinical studies as well as in your preliminary exams. This content will help you master the key fundamentals of Genetics.

Biology for Physicians: Human Genetics – Inheritance in Human Beings

"This is genetic!" Which diseases are inherited as an autosomal dominant trait and which as a X-chromosomal recessive trait? What is the purpose of our gonosomes? How do you calculate a risk for inheritance? What do you know about genomic imprinting and the inheritance of blood types? In this article, we offer you everything you need to know about human genetics including the most important facts and genealogical trees of major genetic diseases.

Heredity and Genetic Counseling

Genetics and heredity – nowadays, everyone knows that diseases can be inherited. For that very reason, patients seek advice with their doctors because they are concerned about unborn children, family members, or themselves. An aspiring doctor must therefore be able to provide genetic counseling and diagnosis. The following article addresses the different modes of heredity, explains important tools –e.g. family pedigree creation and analysis–, and illustrates their application using the example of cystic fibrosis, a frequent genetic disease.

Biotechnology: Recombinant DNA and Gene Amplification

Biotechnology is the use of biological organisms or processes to develop products or improve the quality of life. One common technology studied is the Recombinant DNA technology. DNA of two organisms are combined to improve characteristics and properties of an organism. Modification of the DNA also is done to develop new pharmaceutical therapies and diagnostic tests. In this article different techniques in biotechnology are discussed namely, recombinant DNA technology, Polymerase Chain Reaction, Gel Electrophoresis and CRISPR Cas9.

Biotechnology: DNA Libraries, Analysis and Applications

There is a variety of applications that can be done using recombinant DNA technology. This is why it important to develop libraries for the genomes of organisms so that it will be easier for scientist to isolate desired genes of interest. This topic review discusses DNA libraries and how they are developed. Also given in this article are the applications of biotechnology in the field of forensics, medicine and agriculture. Blotting techniques and how they apply in forensic investigation are included in this article as well.

Limbic System Disorders: Wernicke-Korsakoff Syndrome, Klüver-Bucy Syndrome, Alzheimer's Disease

The limbic system is a cluster of brain structures, mainly responsible for the emotion, behavior, and memory and arousal response. It is thought to be an outcome of the evolutionary response that occurred in all mammals including human beings. However, the development of this system is far greater in human beings compared to other mammals.

Hirschsprung's Disease (Congenital Megacolon) — Symptoms and Causes

Pediatric Hirschsprung Disease occurs when there is an absence of the ganglionic layer in the myenteric layer of the anus and the submucosa of the colon. This leads to the failure of relaxation of the colon, delayed passage of meconium, abdominal distension and constipation. Laboratory investigations are helpful if the patient develops enterocolitis where leukocytosis might be evident. Barium enema studies and histologic examination of biopsies confirm the diagnosis of Hirschsprung disease, and surgical resection of the aganglionic part of the colon is the current treatment of choice.

Types of Diabetes: Type 1, Type 2 and Type 3 and Gestational Diabetes

In many diseases, early diagnosis is important for slowing the progression. This also applies to diabetes mellitus. Especially with type 2 diabetes, a timely detection of symptoms may limit the severe consequential damage and help patients to further have an asymptomatic life. Therefore, medical students should have keen senses about the patients with obesity, weight loss, polydipsia and polyuria.

Human Genetics – Chromosomal Aberrations

Chromosomal aberrations are chromosome mutations which entail changes in the genome. These changes can affect either parts of a chromosome, or an entire chromosome. Chromosomal aberrations can be even further categorised into numerical and structural chromosomal aberrations.

Angelman Syndrome (AS; Happy Puppet Syndrome) — Symptoms and Genetics

Angelman syndrome (AS) is an infrequent, unusual autosomal neuro-developmental disease resulting from epigenetic sex-specific genomic imprinting and uniparental disomy of paternal chromosome 15 with a simultaneous functional loss of the maternal part 15q11-q13. With a focus on clinical, diagnostic and management aspects, this article encompasses a detailed discussion on the genetic mechanisms involved in AS.

Prader-Willi Syndrome (PWS) — Diagnosis and Treatment

Prader-Willi syndrome (PWS) is an unusual, rare complex autosomal neuro-developmental disease resulting from genomic imprinting and uniparental disomy of maternal chromosome 15 with a simultaneous functional loss of the parental part 15q11.2-q13. This article briefly elucidates the phenomenon of genomic imprinting, focuses on the diverse clinical features of PWS and concludes with the management of the same.

Genomics: Mapping and Sequencing Genomes

Genomics is the study of what the genome does. In this article, we include the topics of distinguishing between genetic and physical maps, describing the process of DNA sequencing and characterizing two different methods for sequencing genomes— the clone-by-clone vs. shotgun sequencing.

Human Genetics & Inheritance

Chromosomes are the cellular carriers of genes and are the functional unit of heredity. First described by Mendel in 1865, each gene can exist in an array of different forms called alleles. Hereditary traits are passed to offspring through alleles each given by the parents. The distribution of homologous chromosomes during meiosis, of which one of each pair is randomly chosen, is conveyed to each haploid cell. Genes are passed to the offspring, and each time that the genome is replicated, transcribed, and translated, proteins that reflect the combination of hereditary traits is reflected in the phenotype.

Down Syndrome (Trisomy 21) — Causes, Symptoms and Diagnosis

Down Syndrome, or trisomy 21, is not only the most common chromosomal aberration, but also the most frequent genetic cause of mental retardation. Nowadays, it is possible to assess the risk of having a child with Down syndrome via cytogenetic examination and to discuss the matter in detail with the respective families. Learn more about the epidemiology, clinical picture and diagnostics of Down syndrome and discover its most important treatment options.

Single Gene Disorders: Fragile X Syndrome (FXS, Martin-Bell Syndrome) — CGG Expanding Repeat

Single gene disorders are caused by defects in a single gene. Although they are rare, they affect approximately 1 % of the population. These can be dominant, recessive or X-linked. On the other hand, trinucleotide repeat or CGG expanding repeat disorders are characterized by the repetition of the trinucleotide sequence is certain genes leading to gene defects and disorders. Examples of trinucleotide repeat disorders include Fragile X syndrome, Huntington’s disorder, and Spinocerebellar ataxia.

Segregation of Chromosomes with Inversions

Inversion is a type of chromosomal mutation which involves breakage and subsequent reunion of the same chromosomal segment, but in a reverse order. This article encompasses basics of inversion and concludes with segregation characteristics and clinical implications of the same.

Sex Chromosome Disorders

Sex chromosomes have a pivotal role in sex determination. Aberrations of sex chromosomes in diverse ways at different stages of development of an individual result in disorders of sex development (DSD); the understanding of which is often garbled. With a brief introduction to sex determination and sex chromosomes; this article aims to simplify the concept of DSDs.

Goldilocks Principle and Monoallelic Expression

Monoallelic gene expression refers to the allele-specific expression of genes. Only one allele of the gene is actively transcribed. It can occur in different ways such as genomic imprinting, random choice of one allele, and X-inactivation. Other allele expressions are balanced and unbalanced expressions. Balanced expressions have both alleles equally expressed whereas unbalanced ones do not express each allele equally. Goldilocks principle states that everything should fit in the certain margin; neither too much nor too less. When the amount of gene product changes, it no longer follows the “just right” principle of Goldilocks.

Introduction to Medical Genetics 00:39 h / 8 videos 3 free

Introduction to Medical Genetics 8 articles 8 free

Introduction to Medical Genetics 19 questions 6 free
Chromosomal Disorders 01:24 h / 15 videos 4 free

Chromosomal Disorders 7 articles 7 free

Chromosomal Disorders 57 questions 17 free
Single-Gene Disorders 01:19 h / 14 videos 4 free

Single-Gene Disorders 3 articles 3 free

Single-Gene Disorders 14 questions 14 free
Multifactorial Inheritance 00:37 h / 7 videos 2 free

Multifactorial Inheritance 5 articles 5 free

Multifactorial Inheritance 0 questions
Population Genetics 01:22 h / 14 videos 4 free

Population Genetics 2 articles 2 free

Population Genetics 0 questions

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Medical Genetics

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Your Educators of course Medical Genetics

Georgina Cornwall, PhD

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