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Medical genetics

Palate and Lips: Study Shines a Light on Genetic Factors

Cleft lip and palate (CL/P) is the second most common birth defect in the world, affecting 1 in 700 live born babies. While the exact cause of CL/P is not well understood, investigators think it could be the result of a combination of genetics and environment. Cleft lip and palate are splits in the upper…

Medical genetics

DNA Mutation Fingerprints That Help Explain Cancer

The research, by scientists at the University of Cambridge and King’s College London, uncovered the patterns of DNA damage caused by 41 environmental agents, such as ultraviolet light, tobacco smoke and polycyclic hydrocarbons. The human genome is made up of nucleotides represented by the letters A, C, G and T. Mutations in the sequence of…

Medical genetics

Study Links Gene to Sleep Problems in Autism

Up to 80% of children with autism spectrum disorder (ASD) experience sleep problems. The source of these problems has been as much of a mystery as the exact causes of ASD; which scientists are still working to unravel. A new study led by a team of neuroscientists at Washington State University has brought scientists closer…

Medical genetics

Using Genomics to Solve a 20-Year Case Study

After 20 years, a patient’s family received an answer to a decades-long genetic mystery. Their daughter had two rare disorders, Angelman syndrome and P450scc deficiency, which is detect after researchers find out she had uniparental disomy, two copies of chromosome 15 from one parent and none from another. Angelman Syndrome The research paper, entitled “Adrenal Insufficiency,…

Medical genetics

Genetic Test Detects Hundreds of Harmful Mutations in High-Risk Groups

Researchers at Nemours Children’s Health System have developed a new low-cost genetic test that accurately identified more than 200 known disease-causing gene variations in two high-risk populations, the Old Order Amish and Old Order Mennonites of Lancaster County, Pennsylvania. The findings, published today in the Journal of Molecular Diagnostics, could help reduce morbidity and mortality from…

Medical genetics

Machine-Learning System to Diagnose Genetic Diseases

Researchers at Rady Children’s Institute for Genomic Medicine (RCIGM) have utilized a machine-learning process and clinical natural language processing (CNLP) to diagnose rare genetic diseases in record time. This new method is speeding answers to physicians caring for infants in intensive care and opening the door to increased use of genome sequencing as a first-line…

Medical genetics

Cells Due to ORAI1 Gene Mutation Leads to Damaged Tooth Enamel

A mutation in the ORAI1 gene studied in a human patient and mice leads to a loss of calcium in enamel cells and results in defective dental enamel mineralization, finds a study led by researchers at NYU College of Dentistry. The study, published April 23 in Science Signaling, identifies ORAI1 as the dominant protein for calcium influx and…

Medical genetics

Can't lose Weight You Have Obesity Genes to Blame

Some people who are overweight report that they eat no more than slender friends and exercise just as much; but still can’t drop pounds. Now researchers think they know why this experience is entirely possible; an explanation they hope will help destigmatize obesity and offer new paths to prevent a condition linked with killers including…

Medical genetics

RNA Sequencing Used to Discover Novel Genes

Researchers at the Mucosal Immunology and Biology Research Center at Mass General Hospital for Children (MGHfC) have discovered novel genes and pathways related to early stages in the development of celiac disease and the ongoing inflammation and comorbidities associated with the condition. The findings; published in PLOS One, include analyses of RNA sequences in duodenal…

Medical gnetics

DNA Repair Gene Linked to Male Infertility

A key DNA repair gene known as X-ray repair cross-complementing group 1, or XRCC1, plays a vital role in maintaining genomic stability and is highly expressed in the early stages of sperm cell development (also known as spermatogenesis). To date, however, the exact mechanisms of XRCC1 have been unclear. A recent animal study published in The…

Medical Genetics

Tumors by Restoring Aberrant Gene Regulation in Cancer Cells

Working with human colon cancer cells and mice, researchers led by experts at the Johns Hopkins Kimmel Cancer Center say they have successfully blocked the activity of portions of a protein known as UHRF1 and restored the function of hundreds of cancer-fighting genes that became “misregulated” by the disease. In a report on the research,…

Medical genetics

Mutation Behind Incurable Disease Mapped

Researchers at Karolinska Institutet have mapped the genetic mutation behind the incurable disease systemic mastocytosis. The results give insights into the origin of the disease, and the researchers also discovered a protein with potential to improve disease diagnosis. The results are published in the journal EBioMedicine. Systemic mastocytosis is an incurable disease characterised by accumulation of mast cells,…