CYLD cutaneous syndrome (CCS) is a genetic disease that affects areas of the body where there are hair follicles. Skin tumours called cylindromas are also seen in CSS patients.

Three in five people with Down syndrome were found to be diagnosed with dementia by age 55, revealed new study of 3,000 people in Wisconsin. Not

Lymphatic system was found to play an important role in hair regeneration, said new research in Science, led by Elaine Fuchs, the Rebecca C. Lancefield Professor.

Even when using very sensitive methods, there are no cell lines with chromosomal aberrations in IVF kids. Hence, in vitro fertilization does not pose

CRISPR-Cas9 protein was found to help increase the targeting accuracy in the genome editing process, revealed a team of researchers from City University of Hong Kong (CityU) and Karolinska Institutet.

Genetic variation in enhancers (non-coding regulatory regions) was found to play a role in a person's risk of developing psychiatric or neurological conditions, stated new study.

A novel method to optimize facial analysis that enables reconstructing the face in 3D from 2D photographs allows early identification of genetic syndromes, presented new study.

University of Freiburg scientists have used gene scissors to edit genetic material in order to better diagnose diseases such as cancer. The results are

In mice a gene that influences memory recall at different times of day has been discovered by researchers. "We may have identified the first gene

The link between single nucleotide polymorphisms (common gene mutations) and different diseases and conditions has been examined by scientists. And the

Healthy donor stem cells that produce normal collagen in Osteogenesis imperfecta (OI) patients have the potential to improve bone mass and correct the mutant collagen matrix, reports a new study.

Scientists have discovered a new approach in which three different gene delivery vectors were injected intravenously and directly into the kidneys of mice.

Human embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs) were found to display unlimited proliferative potential in culture, which

There is no link between oral infections and the risk of stem cell transplantation patients dying of or getting a serious infection within six months of the procedure, found new study.

A gene that is associated with severe genetic kidney disease has been identified successfully. This groundbreaking discovery could open up new avenues for more precise treatments.

Researchers discovered a polymer sheet that functions as an artificial muscle as it transforms stem cells into bones. Stem cells are known for their

Human stem cells can provide long lasting pain relief without producing any side effects, in a single treatment, according to a study done on mice. The

The first cellular model of chronic granulomatous disease (CGD) the rare genetic condition has been created by Sainte-Justine and Universite de Montreal researchers.

Scientists are working globally to educate clinicians and families on how to identify, test and provide care for those born with fragile X syndrome, often linked to autism.

Genetic screening helped to detect genes that protect against the toxic effects of a mutant protein causing Huntington's disease. These efforts yielded

Research-based ultrasound exams help detect kids at high risk of developing cystic fibrosis liver issues, according to a study involving 11 clinical sites

Gene therapy to treat aldehyde dehydrogenase type 2 (ALDH2) deficiency helps prevent increased risk for esophageal cancer and osteoporosis linked to chronic alcohol exposure, revealed study.

Gene repeats that cause Fragile X Syndrome normally regulate how and when proteins are made in neurons, said a Michigan Medicine team. This process may

A new study in mice has revealed administering stem cell or enzyme therapy in utero paves path to alleviating some congenital diseases that often result in losing a pregnancy.

Specific nutrients were found to directly influence the stem cell development, revealed Biomedical scientists from KU Leuven and Harvard University published these results in Nature.

New study has discovered a genetic mutation that reduces a patient's ability to exercise efficiently. The findings of the study are published in the iNew England Journal of Medicine/i.

A novel approach to enhance the potency of blood-forming stem cells, potentially opening the door to a new approach for bone marrow transplantation has been discovered by Mount Sinai researchers.

Accumulation of DNA breaks can cause aging, cancer, and Motor Neurone Disease (MND). But a novel toolkit discovered could help repair DNA breaks caused

New genetic screening platform using CRISPR technology for targeting thousands of genes in a massively-parallel fashion give an accurate and fast method

Youthful strength can be regained after the existing muscle stem cells are subjected to the rejuvenating protein treatment, and transplanted back into our bodies, reports a new study.

Gene therapy could prevent or reverse cardiac dysfunction in Barth syndrome according to the new research at Boston Children's Hospital. The findings,

CRISPR-Cas9, the gene editing technology helps better understand facioscapulohumeral muscular dystrophy (FSHD) and explore potential treatments, found new study.

New gene that causes melorheostosis, a rare group of conditions involving painful and disfiguring overgrowth of bone tissue, is identified by the team

Novel mechanism that helps explain how certain genetic mutations give rise to a rare genetic kidney disorder called nephrotic syndrome has been mapped

New study proposes a method to extend polygenic scores, the estimate of genetic risk factors and personalized medicine revolution, to individuals with

New study has found a recently developed system for switching on the activity of genes that could improve treatments for a broad range of neurological diseases.

Gene therapy could improve quality of life for many glaucoma patients. The research team tested a new approach that could provide additional treatment options and benefits.

New study finds more evidence for the efficacy of a telehealth-delivered behavioral intervention in treating language problems in youth with fragile X syndrome (FXS).

New, previously unknown form of inflammatory skin disorder known as familial (hereditary) cold urticaria develops when exposed to temperatures below 15

New study analyzed the genetic make-up of 34 affected children and young people with apraxia. Results revealed that variations in nine out of eleven genes are responsible for apraxia.

Novel genetic risk assessment tool detected more men at increased risk for an abdominal aortic aneurysm, according to the study presented at the American

Scientists have reported substantial variability from state to state and region to region in the number of donor organs recovered from drug-intoxication-related deaths.

Even though recipients who received liver grafts from older donors (70 and older) had improved outcomes with reduced mortality, graft loss and postoperative

Nine patients infected with hepatitis C virus (HCV) after receiving lifesaving heart transplants from deceased donors who were infected with the disease

Hepatitis B and C viral control was found to improve kidney transplant survival rates, stated study published in the Journal of Hepatology. Renal

Blood-forming stem cells' stiffness was found to facilitate mobilization procedures used for stem cell-based transplants, said Winship Cancer Institute

Doctors can safely transplant hepatitis C-infected hearts and lungs into people who are in dire need for a new organ, reports a new study. The findings

Despite a new system designed to reduce inequities, significant racial disparities exist among patients awaiting kidney transplants, finds a new study.

Ariana Dey, a Kolkata-based newborn, has become India's youngest liver transplant patient, says the doctors from Max Super Speciality Hospital in New Delhi.

First baby boy was born after the technological shift in Gothenburg's world-leading research on uterine transplantation. The boy was 48 centimeters long,