Several articles focus on new achievements by scientists in the field of rare diseases

doi:10.1002/jimd.12345 Recently, scientists at the University of Exeter have found a way to "save" cell gene mutations for possible fatal diseases such as mitochondrials in rare children The new treatment paves the way; the team, published in the journal Journal of Inherited Metabolic Disease, used a new drug being developed by the University of Exeter that provides alternative fuels for mitochondrials through "metabolic reprogramming."
produces a small amount of metabolic energy in the form of hydrogen sulfide.
team used worms with specific genetic mutations that affect energy production and match mutations in human diseases such as Lye's syndrome.
team found that treating these animals with new compounds could successfully normalize or improve the energy production processes needed to keep them healthy and active. professor Tim Etheridge, of the University of Exeter and one of the study's authors, said:
The worm is a very powerful genetic tool for studying human health and disease and provides an ideal platform for rapid identification of new potential therapies.
The nucleosomes used in this study have genetic defects in how their mitochondrials regulate cellular energy production to simulate different human mitochondrial diseases, and the new compounds we developed at the University of Exeter are able to bypass some of these defects and keep the mites and their mitochondrials healthy.
because we have seen improvements in physical activity and in muscle and mitochondrial integrity.
these animals can survive longer after treatment, but more importantly, they can stay active longer due to metabolic reprogramming.
" JCI interpretation! In-depth understanding of the pathogenesis of rare diabetes may help clarify the mysteries of insulin production in the body! Doi:10.1172/JCI142364 In a recent study published in the international journal Journal of Clinical Investigation, scientists from the University of Exeter and others revealed the molecular mechanisms of insulin production by studying rare types of diabetes; researchers say they could reveal why babies develop a rare type of diabetes or a new biological path path, and help understand the principles of insulin production, which may hopefully help scientists develop new treatments for more common types of diabetes. In the
study, researchers used genome sequencing to reveal a group of babies with the same clinical characteristics who developed diabetes shortly after birth, all carrying genetic changes in the YIPF5 gene, and combined stem cell research with CRISPR gene editing tools to find that the YIPF5 gene is important for the function of cells to produce insulin. In the
article, the researchers revealed how these genetic changes lead to elevated stress levels in cells that induce cell death, and for the first time in this study, the yiPF5 gene's function is important for neurons and insulin-producing β cells, but seems to be available for other cells.
: Immunotherapy can treat rare gastrointestinal cancer doi:10.1038/s41598-020-75844-6 A new study by the University of Birmingham found that 50 percent of patients with rare types of cancer that have spread to the abdomen may be suitable for immunotherapy.
about 1% of bowel cancer patients, their cancer spreads to the abdominal (peridural cavity) endometrium, known as peridural metastasis (CPM).
the spread in bowel cancer patients is poor, so most patients do not survive for more than 12 months from the beginning of diagnosis.
CPM patients have limited survival rates and are unable to obtain the best treatment.
conventional chemotherapy is ineffective, and current treatments include extensive surgery that is not always effective.
about 50 percent of CPM patients have some kind of genetic change, called high mutations, the researchers said.
means they may be sensitive to immunotherapy because this type of treatment works well in other highly mutated patient groups.
also found potential sensitivity to a drug based on a pig inhibitor based on another genetic marker found in these patients.
is the first of its kind in the world for CPM patients, and our results suggest that this could provide potential treatment options for patients, given our response to other cancer immunotherapy.
(4) Nat Cancer: Immunotherapy treats rare eye cancer doi:10.1038/s43018-020-00119-y In a recent article, researchers found that using a combination of CAR-T cells and immunologic drugs packaged in injectable gels could save the vision of mice implanted with human-origin retinal cell tumor tissue.
recently published the findings of scientists at the University of North Carolina's Lineberger University Comprehensive Cancer Center in the journal Nature Cancer.
about 200-300 children are diagnosed with retinal scleoma each year in the United States.
it is a rare type of cancer.
currently, treatments for retinal scleoma include chemotherapy and radiation therapy, but vision is still not protected, so UNC researchers are looking for ways to preserve it.
First, the researchers experimented with chimic antigen-T (CAR-T) cell therapy, an immunotherapy in which T cells containing the immune system are modified in the lab to express the chisellular antigen-liker CARs that target proteins on the surface of cancer.
laboratory tests, they found that a molecule GD2 was expressed in retinal scleoma, but the likelihood of targeting the molecule to safely eliminate tumors in the eye is unclear.
5 (Xinhua) -- Researchers at the Perelman School of Medicine at the University of Pennsylvania, the University of Athens in Greece, and the Athens Medical Center have discovered a new rare genetic form of dementia in a new study---
findings also reveal a new way to cause proteins to build up in the brain, which could be a target for developing new therapies.
protein build-up in the brain can cause this newly discovered disease, as well as associated neurodegenerative diseases such as Alzheimer's disease (AD).
study was published in the journal Science.
Alzheimer's disease is a neurodegenerative disease characterized by the accumulation of tau proteins in certain parts of the brain.
The researchers examined samples of human brain tissue from a dead patient with an unknown neurodegenerative disease and found new mutations in the brain's Valosin-containing protein(VCP) gene, a build-up of tau proteins in degraded brain regions, and empty bubbles in neurons.
they named the newly discovered disease Vacuolar Taupathy (VT) ---, a neurodegenerative disease characterized by the accumulation of neuron empty bubbles and tau protein aggregates.
: Neurologic abnormalities lead to rare genetic disorders doi:10.1038/s41591-020-1043-9 A recent study identified neuron activity abnormalities in patients with rare genetic diseases.
, the authors found that overexpressive gene-specific expressions and the treatment of several antipsychotic drugs helped restore normal cellular function.
study, funded by the National Institutes of Health (NIH) and published in the journal Nature Medicine, sheds light on the factors that lead to the development of mental illness caused by 22q11.2 deficiency syndrome.
22q11.2 deficiency syndrome is caused by the absence of genetic material on chromosome 22 q11. 2.
people with 22q11.2 deficiency syndrome develop heart abnormalities, poor immune function, abnormal upper jaw development, bone differences, and stunting.
, the genetic mutation increased the risk of autism spectrum disorder (ASD) by 20-30% and mental illness by 30 times.
22q11.2 deficiency syndrome is the most common variant of the number of copies of genes found in ASD patients, and up to a quarter of people with this genetic syndrome develop schizophrenia spectrum disorder.
:Cell: Identifying more than 7,000 genetic regions in the human genome that control the properties of blood cells Promises to predict the risk of rare and common blood diseases in the population Doi:10.1016/j.cell.2020.08.008 Now two large-scale genetic studies have identified the affector In a recent study published in the international journal Cell, scientists from 101 research institutions around the world, including the Sanger Institute at the University of Cambridge, studied thousands of participants and identified more than 7,000 regions in the human genome that could control the properties of blood cells, including the number of red and white blood cells.
article, researchers explain for the first time how a person's genetic make-up induces a blood disorder, and the findings may help researchers use genetic scoring tools in clinical trials to predict an individual's risk of developing a blood disorder.
Blood cells play a critical role in human health, including the body's immune response, the transport of oxygen, the formation of clotting to prevent blood loss from wounds, and blood disorders such as anemia, haemophilia and blood cancer may be an important burden on the health of people around the world.
Many of these diseases are considered to be extremes of normal biological conditions, such as anemia, in which the patient's body tends to suffer from a lack of oxygen supply due to too few red blood cells, which may also be caused by small mutations in the body's DNA, some of which also increase the risk of disease in the individual.
8: Scientists have developed a new genetic database, gnomAD, which promises to help overcome a variety of rare diseases! doi:10.1038/s41591-020-0893-5 Scientists from MIT, Harvard University and Imperial College London have developed the world's largest open database of DNA genetic mutations, some of which can cause human disease.
researchers described the database in seven landmark articles, the Genome Aggregation Database, which includes information from more than 140,000 people worldwide.
The researchers describe how the use of gnomAD reveals unknown genetic mutations that previously induced disease, while also providing potential drug targets for treating a variety of human diseases, such as Parkinson's disease;
's a heavy weight! Two gene therapies can cure rare genetic diseases! Doi:10.1172/jci.insight.130260 Arginase defect is a rare genetic disease that causes the accumulation of the amino acid arginine in the blood.
, however, when babies are toddlers, their muscles begin to stiffen, followed by epilepsy, tremors and stunting, which can lead to severe intellectual disabilities over time.
scientists at the University of California, Los Angeles, have developed two new ways to pass copies of functional arginase genes to mice lacking arginase.
method is to treat mice every 3 days, using tiny nanoparticles to carry arginase RNA into the liver.
another virus to bring arginase DNA to the liver, and if taken correctly in mice between 2 and 4 days old, a dose could prevent symptoms of arginase deficiency in animals.
We are in an era of genomics and genetic innovation, and we can bring new targeted treatments to patients with genetic disorders," said Dr. Gerald Lipshutz, a professor of surgery at the University of California, Los Angeles (UCLA) and senior author of both studies.
these treatments may benefit only a small number of people with rare or rare diseases in the first place, but they will eventually be more widely used.
" arginase deficiency is caused by the absence or mutation of the arginase gene ARG1, which affects one in every 1 million babies born in the United States.
is one of six proteins in the liver that play a role in breaking down and removing arginine from the body.
without arginase, arginine accumulates in the blood and causes problems, mainly in the brain.
: Researchers at Yale University and their collaborators at the National Institutes of Health sequenced a 9-year-old girl's genes and identified the cause when she sought help for anemia, breathing difficulties and recurrent infections.
discovered not only a new disease, but also an unexpected new effect of genes that affect the immune system.
immune cells mistook healthy tissues and organs for threats and attacked them, the patient's immune system and autoimmune system