Medical Genetics

Adeno-associated virus (AAV)-based gene therapy is a biological vector that is being researched to be used as a potential therapeutic option. This gene therapy is designed to insert fragments of DNA into targeted cells to help treat diseases, such as hemophilia a. Discover the latest research on AAV-based gene therapy here.

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

Acute myeloid leukaemia (AML) is a common hematological type of cancer. As the population ages, there has been a rise in the frequency of AML. RNA expression has been used to see if there are different genetic profiles that exist within AML and whether these may underpin the variations in survival rates. Here is the latest research on AML and RNA.

Alzheimer's disease is a chronic neurodegenerative disease. Discover genetic and epigenetic aspects of Alzheimer’s disease, including genetic markers and genomic structural variations here.

This feed focuses on antisense oligonucleotide therapies such as Inotersen, Nusinursen, and Patisiran, in neurodegenerative diseases including amyotrophic lateral sclerosis.

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Breast cancer is a multifactorial disease that is influenced by both environmental and genetic factors. Discover the latest research on the environmental and genetic risk factors for breast cancer here.

Gene and cell therapy advances have shown promising outcomes for several diseases. The role of cis-regulatory elements (CREs) is crucial in the design of gene therapy vectors. Here is the latest research on CREs in gene and cell therapy.

Viral vectors are used in biological research and therapy to deliver genetic material into cells. However, the efficiency of viral vectors varies depending on the cell type. Here is the latest research on cell-type-specific viral vectors.

Childhood vascular tumors are formed from cells related to blood vessels or lymph vessels. Here is the latest research on the genetics of childhood vascular tumors.

Copy number variation refers to alterations in the number of gene copies or DNA sequences. It can be a duplication, amplification, or a deletion event. Here is the latest research.

Cystic fibrosis is an autosomal recessive disease, which is the result of a genetic defect in the cystic fibrosis transmembrane conductance regulator (cftr) gene. Here is the latest research on this disease

Development of gene editing techniques, including CRISPR and TALENs, has relied on mechanisms that underlie DNA repair and genome stability pathways. This feed focuses on the role of DNA repair mechanisms in gene editing and genetic engineering.

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22. It is is characterized by cardiovascular, thymus and parathyroid defects and craniofacial anomalies. Discover the latest research on DiGeorge Syndrome here.

Down syndrome is a chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe intellectual disability. Discover the latest research on Down syndrome here.

Genetic circuits are essential for many biological processes including oscillation (e.g. the cell cycle), cell differentiation, patterning of multicellular tissues, and cellular response to environmental signals. Here is the latest research on editing these genetic circuits.

Fluorescence in situ hybridization (FISH) is one of the major techniques used to detect of chromosomal aberrations. Here is the latest research.

Fragile X syndrome is caused by an expanded CGG repeat (> 200 repeats) in the 5' untranslated portion of the fragile mental retardation 1 gene (FMR1) within the X chromosome, leading to deficiency of fragile X mental retardation protein (FMRP). It is cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. Intellectual disability occurs in nearly all males and roughly 50% of females with the full mutation. Discover the latest research on Fragile X syndrome here.

The use of DNA as a technique for treating disease is a key feature of gene therapy. This type of treatment is being investigated to either replacement of a mutated gene with a healthy copy, silence a mutated gene that is dysfunctional or insert a novel gene to help fight disease. Discover the latest research on gene therapy here.

Genetic counseling is the process of advising individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. The process integrates:1. interpretation of family and medical histories to assess the chance of disease occurrence or recurrence; 2. education about inheritance, testing, management, prevention, resources; 3. counseling to promote informed choices and adaptation to the risk or condition.

Genetic engineering is a process that alters the genetic structure of an organism by removing or introducing DNA. This technique is being tested to program cells. Discover the latest research on genetic engineering to program cells here.

Genetic epidemiology examines the role of genetic factors in determining health and disease in populations and the interaction between these genetic factors with environmental factors. Here is the latest research on the genetic epidemiology of complex multifactorial diseases like cancer.

Habituation, the gradual waning of an evoked behavioral response with repeated stimulation, is a basic and universal form of learning. This feed explores the genetic networks that are involved in the occurence of habituation.

The genetic aspects of the endocrine system, including hormones and hormone metabolism is the focus of this feed. Here is the latest research on genetics and metabolic hormones.

This feed focuses on genetic factors that predisposes diabetic patients to cardiovascular (CV) disease. Discover the latest research here.

Anorexia Nervosa is a psychiatric disease that can be severely debilitating and life-threatening. Genetic associations have discovered abnormalities on chromosome 12. Other genetic risk factors are being investigated to discern if there are other genetic and familial links. Here is the latest research pertaining to this disease.

Genome-wide association studies have revealed pathways linked to autoimmune disorders and their pathogenesis. Discover the latest research on the Genetics of Autoimmunity here.

This feed focuses on the high throughput technologies used to dissect the genetics of behavior and their associated disorders. Discover the latest research here.

Subtle changes in DNA could partly explain the variation in individual differences in pain. There is growing evidence that a number of genes play a critical role in determining pain sensitivity, pain reporting and susceptibility to developing chronic pain and their response to surgical outcomes primarily, pain.

This feed focuses on emerging cell and gene therapies, such as HIV vaccines, for treating patients living with HIV/AIDS. Discover the latest research here.

Hemochromatosis is a genetic disorder characterized by excessive intestinal absorption of dietary iron, resulting in a pathological increase in total body iron stores. It leads to massive iron deposits in parenchymal cells of liver, adrenal glands, heart, skin, gonads, joints and pancreas, which disrupts the normal function of these organs. Discover the latest research on hemochromatosis here

Huntington’s disease (HD) is a hereditary neurodegenerative disease caused by mutations in the HTT gene which encodes the huntingtin protein. HD is characterized by poor coordination and involuntary body movements. Here is the latest research on the structure and function of huntingtin.

Hutchinson-gilford progeria syndrome is a very rare premature aging disorder that affects children, clinically mimicking physiological aging at a young age. The disease incidence is estimated at 1 in 18 million. Discover the latest research on Hutchinson-gilford progeria syndrome here.

This feed focuses on the role of mutations in immune genes leading to Type 1 Diabetes, an autoimmune disease.

Mixed lineage leukemia-1 (MLL-1) is a particular type of acute leukemia from the mutation of the MLL/KMT2A gene. This mutation can be seen in pediatrics, adults and therapy-induced acute leukemia’s. Discover the latest research on MLL-r leukemia here.

Marfan syndrome is an autosomal dominant disorder of connective tissue with abnormal features in the heart, the eye, and the skeleton. It is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue. Discover the latest research on Marfan syndrome here.

Muscular dystrophy refers to a range of muscle diseases caused by defects in muscle proteins, leading to death of the muscle cells, with loss of muscle tissue, and weakness. Here are the latest discoveries pertaining to this disease.

Neurodegeneration is the progressive loss of structure or function of neurons, including neuronal death, and leads to several diseases, including Alzheimer’s and Parkinson’s. This feed focuses on the genetic alterations that underlie neurodegeneration.

Mutations, single nucleotide variants and large genomic rearrangements, in non-coding regions of the genome can have severe consequences such as disruption of transcription factor binding sites and functions of non-coding RNAs and can impact tumor development and progression. Here is the latest research.

Parkinson’s disease is a progressive neurodegenerative disorder that affects movement. This feed focuses on genetic screening approaches and genetic predispositions in Parkinson’s disease.

Phenylketonuria (PKU) is an inborn error of metabolism that results from a deficiency of phenylalanine hydroxylase (PAH). Discover the latest research on phenylketonuria here.

Prader-Willi Syndrome (PWS) is a genetic disorder caused due to the absent expression of a set of genes on chromosome 15. Here is the latest research on this complex multisystem disorder.

Quantitative fluorescence (QF)-PCR is a rapid molecular method that test for common chromosomal aneuploidies in prenatal diagnosis. Here is the latest research.

This feed focuses on genetic, epigenetic, and transcriptomic processes pertaining to retinal development and aging. Here is the latest research.

Retinitis Pigmentosa is a hereditary, progressive degeneration of the retina due to death of rod photoreceptors initially and subsequent death of cone photoreceptors. It is characterized by deposition of pigment in the retina.Discover the latest research on retinitis pigmentosa here.

Genome-wide and high-throughput DNA sequencing in Schizophrenia and Bipolar Disorder can be used to identify genes and pathways that contribute to disease risk. Here is the latest research.

Sickle cell anemia is a disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.

Targeted gene repair is a technique that can be used to change the DNA sequence at a specific site in the genome to either correct or introduce a genetic mutation. Here is the latest research on targeted gene correction.

Tay Sachs disease is a neurodegenerative disorder due to β-hexosaminidase A deficiency caused by mutations in the HEXA gene. Discover the latest research on Tay-Sachs disease here.

Transposons can replicate and spread through the host’s genome and therefore be used as a genetic tool for analysis of gene function. Discover the latest research on the use of transposons for gene editing here.

Triplet Repeat Disorders are genetic disorders that occur as a result of expansion of trinucleotide repeats in certain genes. Examples include Huntington’s disease, certain types of spinocerebellar ataxia, and Fragile X syndrome, among others. Here is the latest research.

Turner syndrome is a syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated gonads (streak gonads), sexual infantilism, hypogonadism, webbing of the neck, cubitus valgus, elevated gonadotropins, decreased estradiol level in blood, and congenital heart defects. Discover the latest research on Turner syndrome here.

The delivery of genes into DNA for gene therapy is done through the use of vectors, which are often viral vectors. These vectors can be manipulated to include DNA and RNA depending on the type of therapy that is needed. Here is the latest research on vector gene therapy.