Saturday, 19 January 2019

Can Gene Therapy Become The Cure For Blindness?

Patients who had lost their sight to an inherited retinal disease could see well sufficient to explore a maze after being treated with a new gene therapy according to the researchers.
Patients in the study had a condition called Leber innate amaurosis (LCA), which starts in infancy and advances gradually, in the long run causing the total blindness. This new, first-of-its-kind Gene Therapy is right now beneath survey by the U.S. Food and Drug Administration for potential approval.

There is currently no cure available for inherited retinal diseases. Information from the primary randomized, controlled, phase 3 study appeared that 27 of 29 treated patients (93 percent) experienced significant advancements in their vision, enough that they may explore a maze in low to moderate light. They also showed advancement in light sensitivity and peripheral vision, which are two visual deficits these patients experience. Approval could open the door for other gene therapies that might eventually treat the more than 225 hereditary mutations known to cause blindness.

It can be applied to retinitis pigmentosa, another inherited retinal disease caused by a defective gene. Or in the future, gene therapy may possibly give key proteins required to reestablish vision in more common diseases such as age-related macular degeneration.LCA is rare, affecting around 1 in 80,000 people. It can be caused by one or more than 19 different genes. The treatment, called voretigene neparvovec (Luxturna, Spark Therapeutics), includes a genetically adjusted version of a harmless virus. The virus is modified to carry a healthy version of the gene into the retina. Researchers infuse billions of modified viruses into both of a patient's eyes. Treatment doesn't restore typical vision. It does, however, permit patients to see shapes and light, permitting them to get around without a cane or a guide dog.

Till now, there is no evidence about how long the treatment will last, but so far, most patients have maintained their vision for two years. More than 200 patients with LCA have taken an interest in gene therapy trials since 2007. However, no gene therapy has gotten this near to FDA approval for retinal disease or any other eye disease. After all the researches, FDA approved the first ever Gene Therapy which targets Rare form of Genetic Blindness.

Sunday, 13 January 2019


Dwarfism is a therapeutic or hereditary condition that causes someone to be significantly shorter than an average-sized man or woman. The normal tallness of an adult with dwarfism is 4 feet, but dwarfism may apply to an adult who is 4'10" or shorter. Dwarfism is usually the result of a hereditary transformation. But having a gene or genes responsible for dwarfism can happen in one or two of ways. In a few cases, it can happen suddenly. You may not be born with transformed genes acquired from a parent. Instead, a transformation of your genes happens on its own usually without a cause specialist can discover. Inherited genetic disorders can take two forms. One is recessive, which suggests you acquire two mutated genes (one from each parent) to have the condition. The other is dominant. You simply require one mutated gene from either parent to have the disorder.

The most common sorts of dwarfism, known as skeletal dysplasias, are hereditary. Skeletal dysplasias are conditions of abnormal bone development that cause disproportionate dwarfism.

Achondroplasia: The most common frame of dwarfism, achondroplasia happens in approximately one out of 26,000 to 40,000 babies and is evident at birth. Individuals with achondroplasia have a generally long trunk and shortened upper parts of their arms and legs.

Spondyloepiphyseal dysplasias (SED): A less common form of dwarfism, SED influences around one in 95,000 babies. Spondyloepiphyseal dysplasia refers to a group of conditions characterized by a shortened trunk, which may not end up apparent until a child is between ages 5 and 10.

Diastrophic dysplasia: A rare form of dwarfism, diastrophic dysplasia happens in around one in 100,000 births. Individuals who have it tend to have shortened lower arms and calves (this is known as mesomelic shortening).

Signs and symptoms
Proportionate dwarfism
When the head, trunk, and appendages are all proportionate to each other, but much smaller than those of an average-sized person, the condition is known as proportionate dwarfism.

Disproportionate dwarfism
This is the foremost common kind of dwarfism. As the name recommends it’s characterized by having body parts that are unbalanced to each other.

Early diagnosis and treatment can prevent or reduce a few of the issues related to dwarfism. Individuals with dwarfism related to growth hormone deficiency can be treated with development hormone. In numerous cases, individuals with dwarfism have orthopedic or therapeutic complications.

Saturday, 5 January 2019

Genetic testing does not cause undue worry for breast cancer patients

"Genetic testing is getting to be progressively more complex, but progressively more exact. This has driven to a few ambiguities in test results. The challenge is joining this data into the treatment choice without causing unnecessary stress," researchers. Initially, genetic testing for breast cancer centered only on BRCA1 and BRCA2 genes. Presently, newer multigene panel tests search for abnormalities in a dozen or more diverse genes that play a few roles in breast cancer risk. By testing more genes, it's more likely a patient will have a positive test or a variant of unknown significance in other words, something is out of the ordinary but specialists don't know how that impacts cancer risk. The concern is that this greater variety seems lead patients to stress as well much about their chance of breast cancer recurrence when the genetic testing results are ambiguous.

Researchers studied 1,063 ladies treated for early stage breast cancer who had gotten genetic testing between the years 2013-2015, the period in which board testing became better known. Approximately 60 percent of the patients were tried only for BRCA1 and BRCA2, whereas 40 percent had the multigene panel test. Patients were inquired how much and how regularly they worried almost their cancer coming back and the impact that stress had on their life. Overall, 11 percent of patients detailed that cancer stress had a high impact on their life and 15 percent stressed regularly or nearly continuously. Neither the impact nor the recurrence of stress changed considerably based on the sort of genetic testing or the test results. The study is published in JCO Precision Oncology.

Researchers found that patients did not overreact whether they got the newer panel testing or BRCA-only testing, and they did not blow up to the test comes about. Their future cancer worry was not different whether they had a negative test or variation of unknown significance." Virtually all of the patients surveyed received a few forms of genetic counseling. "Genetic counseling is basic to maximize the benefit of testing for patients and their families," says Researchers. "But timely counseling after diagnosis of breast cancer is progressively a challenge since more patients are getting tested and the results are more complex."

Friday, 28 December 2018

Jackson-Weiss Syndrome

Jackson-Weiss disorder (JWS) is an uncommon hereditary disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in a few patients craniosynostosis with facial anomalies. Hands are normal in affected patients. This hereditary disorder can too in some cases cause mental inability and crossed eyes.

Mutations within the FGFR2 gene cause Jackson-Weiss disorder. This gene gives instructions for making a protein called fibroblast growth factor receptor 2. Among its different functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a particular portion of the FGFR2 gene overstimulates signaling by the FGFR2 protein, which promotes the untimely combination of cranium bones and influences the development of bones within the feet.

At birth, the bones of the cranium are not joined together; they close up as the child develops. In Jackson-Weiss disorder, the cranium bones connect together (fuse) as well early. This is called "craniosynostosis." This causes:
1. Misshapen skull
2.Widely spaced eyes
3.Bulging forehead
4.The unusually flat, underdeveloped middle area of the face (midface hypoplasia)

Another distinctive group of birth defects in Jackson-Weiss disorder is on the feet:
1. The big toes are short and wide
2. The big toes also bend away from the other toes
3. The bones of some toes may be fused together (called "syndactyly") or abnormally shaped
4. Individuals with Jackson-Weiss syndrome usually have normal hands, normal intelligence, and a normal lifespan.

Diagnosis of Jackson-Weiss disorder is based on the birth defects present. There are other disorders that include craniosynostoses, such as Crouzon disorder or Apert disorder, but the foot abnormalities help distinguish Jackson-Weiss disorder. If there's a question, a genetic test might be done to help confirm the conclusion. The determination of Jackson–Weiss disorder in a person suspected of having the condition is done by means of the following:
1. Genetic testing
2. Clinical presentation


A few of the birth defects display in Jackson-Weiss disorder can be adjusted or reduced by surgery. Treatment of craniosynostosis and facial anomalies is usually treated by specialists and therapists who specialize in head and neck disorders. Treatment for Jackson–Weiss disorder can be done through surgery for a few facial features and feet.  Secondary complications such as hydrocephalus or cognitive impairment can be deflected by means of prompt surgery.

Friday, 21 December 2018

Congenital Anomalies

Congenital anomaly is one of the main causes of physical disabilities, stillbirths and neonatal deaths. Congenital anomalies, moreover commonly referred to as birth defects, congenital disorders, congenital malformations, or congenital variations from the norm, are conditions of prenatal origin that are displayed at birth, possibly affecting an infant's well-being, development and/or survival. Congenital inconsistencies shift significantly in severity. A few congenital irregularities are related to spontaneous abortion, stillbirth, or death within the early postnatal period. Congenital anomalies are a driving cause of death among new-born children around the world, and hereditary factors play a major part in most of the cases. One of the biggest hereditary studies to be carried out in children has fair revealed 14 new qualities responsible for the developmental disorder.

Causes and risk factors

There are approximately 50% of all inherent anomalies cannot be connected to a particular cause, there are a few known hereditary, environmental and other causes or risk factors. However, given that most developmental disorders are exceptionally uncommon; numerous more pathogenic variations stay unknown. The Deciphering Developmental Disorders (DDD) study aimed to recognize developmental disorders in children and utilize genomic advances to progress diagnosing.


Preventive public wellbeing measures work to diminish the frequency of certain congenital anomalies through the removal of risk components or the reinforcement of protective components. Important preventions are:
<>ensuring adolescent girls and mothers have a healthy diet including a wide variety of vegetables and fruit, and maintain a healthy weight; avoid harmful substances, particularly alcohol and tobacco
<>also avoidance of travel by pregnant women (and sometimes women of child-bearing age) to regions experiencing outbreaks of infections known to be associated with congenital anomalies;
<>vaccination, especially against the rubella virus, for children and women and many more.


Health care before and around the time of conception (preconception and peri-conception) includes basic reproductive health practices, as well as medical genetic screening and counseling. Screening can be conducted during the 3 periods listed:
<> Preconception screening can be useful to distinguish those at risk for specific disorders or at risk of passing a disorder onto their children.
<>Peri-conception screening: maternal characteristics may increase risk, and screening results should be used to offer appropriate care, according to risk.
<> Neonatal screening incorporates clinical examination and screening for disorders of the blood, metabolism and hormone production.

Treatment and care

Many structural congenital anomalies can be adjusted with pediatric surgery and early treatment can be managed to children with functional problems such as thalassemia,  sickle cell disorders, and congenital hypothyroidism (diminished work of the thyroid).

Friday, 14 December 2018

The link between depression and genetic variants connected to higher body mass index suggests that obesity causes depression

People who are obese are more possible to possess depression than those who aren't, however it’s been unclear how one may cause the other. A study of the link between depression and genetic variants connected to higher body mass index suggests that obesity causes depression, and that it is the untoward psychological effects associated with obesity that drive the mood disorder. “These new findings are maybe the strongest up to now to counsel higher weights may actually contribute to depression,” Naveed Sattar, a professor of cardiovascular and medical sciences at the University of Glasgow who didn't participate within the work, tells The Guardian. “Of course, several alternative factors will cause depression, but, even so, weight loss may well be useful to boost mental state in some people, whereas keeping leaner normally should facilitate reduce probabilities of depression.”
To determine the direction of relation, researchers at the University of Exeter and the University of South Australia examined genetic information from the United Kingdom Biobank together with 48,791 people with depression and 291,995 without. They used genetic predisposition to the next body mass index (BMI) as a proxy for actual BMI (which they additionally had information on) to disentangle BMI and its relationship to depression from alternative factors that might confound the results.

The authors checked out 2 sorts of genetic variants and their relationship to depression: those who are related to higher BMI and conjointly joined to metabolic issues, like diabetes, and those that are joined to higher BMI however also are tied to a lower risk of metabolic issues. The researchers reasoned that if it were health problems attendant with fatness that were creating individuals depressed, instead of fatness itself, the genetic variants that didn’t carry any metabolic baggage wouldn't be related to depression. However, what they found was that the genetic variants joined with a lower metabolic risk conjointly correlate with depression.

Friday, 30 November 2018

Coffee or tea? Your preference may be written in your DNA

Modern research suggests that our DNA helps us to choose whether we lean toward coffee or tea. Analysts from the College of Queensland in Australia considered how our genes influenced our taste and why we like a few tastes more than others. Taking after investigating; analysts accept they know why a few of us incline toward coffee whereas others like tea more. The analysts found that individuals who like more bitter tastes are more likely to drink coffee. The analysts said they found something interesting in their research. Individuals who were more sensitive to the bitter taste of caffeine were more likely to incline toward coffee to tea.
Analysts looked at data on more than 400,000 men and ladies within the United Kingdom. They too looked at an Australian study that compared the tastes of 1,757 twins with their siblings. The analysts said genes aren't the only variables influencing people's tastes. Other things like our changing environment, social components or the impacts of taking medication can too turn us on or off coffee or tea.
In the new study, analysts inspected DNA variations of genes included in detecting the bitter taste of the chemicals caffeine, quinine — that severe taste in tonic water — and propylthiouracil, or PROP, a synthetic chemical not naturally found in food or drink. Other bitter components naturally in coffee and tea may trigger the same taste reactions as quinine and PROP do, Hayes says. Researchers in Australia, the United States, and England examined DNA from more than 400,000 members in the UK Biobank, a repository of hereditary information for medical research. Members too reported other data compared those scores to the people’s detailed beverage choices. People who had the highest genetic score for detecting caffeine’s bitterness were 20 percent more likely to be heavy coffee consumers, downing four or more mugs a day, than those without the increased sensitivity, the analysts calculate.
Analysts had thought that individuals who are hereditarily inclined to taste bitter more intensely might avoid bitter beverages.

“In this case, it’s unusual how they’re seeking caffeine,” says Researchers. In past studies that sought hereditary variations connected to coffee consumption, “taste genes did not come up.