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.

Causes

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.

Signs/symptoms

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

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

Treatment

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.

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.

Prevention

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.

Detection

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).

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.

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.

Genetic counselling

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Genetic counseling is the method of advising people and their families who are affected by or at risk of hereditary disorders. Also, it is a process to assist them to understand and adapt to the therapeutic, mental and familial suggestions of hereditary contributions to disease.

It involves talking about a genetic condition with a health professional who has qualifications in both genetics and counseling. Genetic Disorders caused by changes or mistakes in genes are inherited from one or both parents to their offspring.

The process integrates:

1. Analyze the family and medical histories to assess the chance of disease occurrence or recurrence

2. Education about genetics, it's testing, management, prevention

3. Counseling to promote the informed choices and adapt to the risk or condition.

Why might you need genetic counseling?

People affected with an inherited disorder or there might be a chance to get the inherited condition, they should consult Genetic Counselor as that will help them to understand more about the condition, what causes it and how they can adjust to it and plan for the better future.

Some of the genetic conditions (sometimes referred to as ‘hereditary disorders’) people talk to a genetic counselor about is: cystic fibrosis, Down syndrome, Fragile X syndrome, Huntington’s disease, cancer, diabetes etc.

The Genetic Counseling is different from the Genetic Testing as later involves tests which your doctor does to know about the symptoms or a family history of a genetic condition. The Genetic testing can only tell you about the likelihood and risk of your passing a genetic condition on to any children that you conceive.

Pregnant Women could do diagnostic tests as part of your pregnancy check-ups and scans, to find out if their baby has a genetic disorder. These tests include amniocentesis and chorionic villus sampling or CVS.

Role of Genetic Counselor:

Genetic counselors are trained to advise you about:

·  The risk of developing specific types of Cancer-based on your     family history

·   Genetic tests that can give one more information about the risk of   certain types of cancer

·   The testing process, the limitations and accuracy of genetic tests

·  Emotional, psychological, and social consequences after knowing   the test results

·   Screening Cancer and monitoring options

·   Cancer prevention

·    Diagnostic and treatment options

·    The privacy of your genetic information

·    Talking with family members about cancer risk

Gene Mutation: The Hair loss

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Researchers have identified a new gene which is involved in hair growth and also found the gene mutation which is responsible for hypotrichosis simplex, a hereditary hair loss disorder which is affecting people nowadays. The disorder causes hair follicle miniaturization, a process in which hair follicles shrink and narrow, and thick hair is supplanted by fine, downy "peach fuzz" hair. This discovery may affect the future researches and treatments for the male pattern baldness and other forms of hair loss.

The identification of this gene basic hereditary hypotrichosis simplex has managed us an opportunity to gain understanding into the method of hair follicle miniaturization, which is most commonly watched in male pattern hair loss or androgenetic alopecia. It is important to note that whereas these two conditions share the same physiologic process, the gene researchers found for genetic hypotrichosis does not clarify the complex process of male pattern hair loss.

The team researchers made their data by analyzing genetic data from few families and from countries like Pakistan and Italy who have hereditary hypotrichosis simplex. After analysis they found a common mutation in the APCDD1 gene, which is found in a particular region on chromosome 18 that has been appeared in past studies to be involved in other shapes of hair loss, counting androgenetic alopecia and alopecia areata, implying at a broader part in hair follicle biology.

Importantly, the analysts found that APCDD1 inhibits a signaling pathway that has long been appeared to control hair development in mouse models but has not been broadly connected to human hair development. Laboratory researchers have focused on this pathway, known as the Wnt signaling pathway, to turn on or off hair development in mice, but, until presently, the pathway did not show up to be included in human hair loss. This finding is significant since it gives evidence that hair growth patterns in people and in mice are more similar than already accepted.

These findings suggest that manipulating the Wnt pathway may have an effect on hair follicle growth for the first time, in humans And unlike commonly available treatments for hair loss that involve blocking hormonal pathways. They are now working to understand the complex genetic causes of other forms of hair loss including alopecia areata, with the hope of eventually developing new, effective treatments for these conditions.

Blue-eyed humans have a single, common ancestor

New research reveals that people with blue eyes have (single) common ancestor. Previously we all had brown eyes, but a genetic mutation affecting the OCA2 gene in our chromosomes resulted in the creation of a 'switch,' which literally turned off the ability to produce brown eyes.

The OCA2 gene codes for the P protein, which is involved in the production of melanin pigment that gives color to our hair, eyes, and skin. The "switch," which is found within the gene adjacent to OCA2, however does not, turn off the gene totally, but rather limits its action to lessening the production of melanin within the iris successfully i.e; "diluting" brown eyes to blue. The switch's impact on OCA2 is exceptionally specific.

In addition to having significantly less melanin in their iris than people with brown eyes, hazel eyes or green eyes, blue-eyed individuals have only a little degree of variation in their genetic coding for melanin production. Brown-eyed people, on the other hand, have significant individual variation within the area of their DNA that controls melanin production. From this, the researchers conclude that all blue-eyed individuals are linked to the same ancestors and they all have inherited the same switch at exactly the same spot in their DNA.

The color of our eyes depends on the amount of melanin is present in the iris. There's only brown color within the eye — there's no hazel shade or green shade or blue color. Brown eyes have the highest amount of melanin within the iris, and blue eyes have the slightest.


Risks Associated With Blue Eyes

As blue eyes contain less melanin as compared to hazel, brown and green eyes they are more susceptible to damage from UV and blue light because melanin in the iris protects the back of the eye from the damage caused by UV radiation and high-energy visible ("blue") light from sunlight and artificial sources of these rays.

Research has shown that blue eye colour is associated with a greater risk of age-related macular degeneration (AMD) and a rare but potentially deadly form of eye cancer called uveal melanoma.

For these reasons, people with blue eyes should be more cautious regarding their exposure to sunlight.