A gendered magnifying glass on COVID-19 - Clinical and Molecular ...

Baylor Genetics Announces Neuromuscular Disorders Panel

Baylor Genetics

Latest Panel Analyzes 142 Genes Associated with Hereditary Neuromuscular Disorders

HOUSTON, May 22, 2023 (GLOBE NEWSWIRE) -- Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic testing and precision medicine, today announced the availability of a Neuromuscular Disorders Panel (NGS Panel). It offers a thorough analysis of 142 well-studied, actionable genes related to many neuromuscular disorders, including congenital myopathies, distal myopathies, congenital muscular dystrophies, and limb girdle muscular dystrophies. This panel is performed on an exome backbone via next-generation sequencing, enabling robust detection of single nucleotide variants, insertions/deletions, and copy number variants at exceptional read depths.

Hereditary neuromuscular disorders can be difficult to accurately diagnose based on phenotype alone because of their inherent genetic heterogeneity. Baylor Genetics' Neuromuscular Disorders Panel assesses many genes based on a clinical indication to help clinicians and their patients achieve an accurate diagnosis sooner and have a better understanding of the prognosis and anticipated disease progression.

Baylor Genetics is committed to a competitive turn-around time to promptly provide answers and end diagnostic odysseys for patients. With a team of experienced scientists and genetic counselors, providers can be confident that they're ordering a relevant, carefully curated test that draws on over 40 years of internal genomic variant data. In-house genetic counselors are available to assist with results interpretation and, in conjunction with a knowledgeable customer service team, ensure no question goes unanswered.

"Getting a timely, accurate diagnosis for a neuromuscular disorder and identifying its causative variants is key to starting a patient on a precision treatment plan and, in some cases, preventing disease progression or the onset of secondary conditions," said Linyan Meng, Ph.D., senior division director at Baylor Genetics.

Story continues

In addition to panel testing, Baylor Genetics offers Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) -- two of the most comprehensive precision diagnostic tests -- backed by expert clinical support for actionable treatment guidance. WES is used to understand the cause of a patient's symptoms (phenotypes) or a disease, especially when faced with a nonspecific presentation that may not be captured in a single panel. It provides insights into all genes in the human body, ensuring a full understanding of most genetic disorders. WGS takes this a step further, providing insights into the entire human genome, including the regions between genes. This extensive analysis can significantly increase diagnostic yield over all other types of genetic testing, empowering physicians and patients to make the most informed decisions about future care, family planning, or clinical trial eligibility.

"We know how daunting the diagnostic odyssey can be, and our mission is to make sure no patient with a genetic disorder gets left behind," said Kengo Takishima, CEO, Baylor Genetics. "For patients with suspected neuromuscular disorders, our NGS panel is comprehensive yet focused, which may make it preferable over Whole Exome Sequencing in an outpatient setting."

We work with you to better understand your patients' conditions so you can provide the best care possible. Visit our convenient online ordering portal to order the new Neuromuscular Disorders Panel today.

About Baylor Genetics

Baylor Genetics is a joint venture of H.U. Group Holdings, Inc. And Baylor College of Medicine, including the #1 NIH-funded Department of Molecular and Human Genetics. Located in Houston's Texas Medical Center, Baylor Genetics serves clients in 50 states and 16 countries.

CONTACT: PR Contact Jordan Bouclin SVM Public Relations Jordan.Bouclin@svmpr.Com (401) 490-9700

Eating Disorders Can Impact Anyone, But Help Is Out There

U.S. News & World Report 5/22/2023 Taft Parsons III

© (Getty Stock Images) Pensive teenager girl in domestic kitchen eating vegetables and drinking juice

About 1 in 10 Americans – approximately 29 million people – will have an eating disorder at some point in life. These conditions are real and complex, and they impact a person's everyday well-being and overall health.

Though eating disorders tend to be shrouded in stereotypes, the reality is they can take many forms and impact anyone. At the same time, shame and societal norms that perpetuate diet culture can mean eating disorders and a similar issue known as disordered eating often go unnoticed or unaddressed, fueling loneliness and isolation among those suffering.

Thankfully, in recent years, we have come a long way in understanding the emotional and societal factors that may cause people to develop an eating disorder. As a result, those struggling have access to more treatment options and tools than ever. Yet barriers to care remain, including misinformation, a lack of education, stigma and more.

Awareness and access to care can help those with eating disorders and their families address underlying issues and adopt healthier habits. Educating ourselves on eating disorders and destigmatizing treatment can show sufferers that their well-being matters and that recovery is possible.

A Widespread Impact

Eating disorders remain woefully misunderstood. The most well-known are anorexia nervosa and bulimia nervosa, but a number of other conditions exist as well, including binge eating disorder. There also is a common misconception that eating disorders primarily impact young women, but the fact is that many people are susceptible to developing these conditions regardless of their age, race, sexual orientation or gender.

Still, researchers have noted certain patterns that make developing an eating disorder more likely, while experts believe people might be born with a genetic predisposition to disordered eating and that environmental factors can activate the behavior. For example, a student-athlete who needs to lose weight to participate in a match or a new mom who receives compliments about shedding baby weight might find themselves triggered to engage in disordered eating if already predisposed.

Yet stereotypes centered around who is most likely to develop an eating disorder can prevent individuals from seeking and receiving care. Some sufferers may even deny their experience altogether because they don't fit a certain mold.

The medical community has much room for improvement in this area. For example, doctors in the past have been significantly less likely to ask minorities about eating disorder symptoms than their white peers, and research also indicates young adults with higher body mass index measurements are less likely to be diagnosed with an eating disorder than their "normal weight" or "underweight" peers. Lastly, a recent study of 9- and 10-year-olds found boys were as likely as girls to engage in disordered eating. In fact, it's believed that 10 million boys and men in the U.S. Will experience an eating disorder in their lifetime.

The consequences of ignoring these conditions, receiving a misdiagnosis or getting inadequate treatment can be deadly. Researchers estimated that approximately 10,200 deaths associated with eating disorders occurred in 2018-2019, while a separate analysis found that 1 in 5 deaths among people with anorexia nervosa were due to suicide.

Eating Disorders Have Been on the Rise

Knowing what we know about environmental triggers, it makes sense that calls to the National Eating Disorders Association Helpline reportedly rose 70% to 80% amid the COVID-19 pandemic, when isolation almost certainly helped fuel a 10.5% rise in social media users globally from July 2019 to July 2020.

And though many are resuming pre-pandemic practices, disordered eating patterns persist. A recent report from the Centers for Disease Control and Prevention found that average weekly emergency department visits related to eating disorders among adolescents 12 to 17 years old increased by 55% from the fall of 2019 to the fall of 2022. The number was up 57% among girls compared with 37% among boys.

While a person's appearance cannot tell us if they're living with an eating disorder, their behavior and attitude toward life and food can offer clues. A preoccupation with weight or calories, food rituals, elimination of certain food groups and excessive exercise are possible signs. Dental and gastrointestinal issues, as well as fatigue, can be physical symptoms that someone is struggling with an eating disorder.

Of course, people should seek a diagnosis from a qualified medical professional. And remember, if you or a loved one is diagnosed with an eating disorder, there are resources and support available to work toward recovery and a healthy relationship with food.

Help for Healing

Greater awareness and understanding of eating disorders, as well as new virtual care options, are breaking barriers and making care easier to access and recovery easier to achieve.

Seeking treatment has become more convenient and less stigmatized. In-person or telehealth sessions with a licensed mental health professional – such as those available in select MinuteClinic locations inside CVS Pharmacy stores – can help someone living with an eating disorder identify pathways to addressing their needs. And both in-person and virtual multidisciplinary care teams, including those available through Aetna's Institutes of Quality, take a comprehensive approach to eating disorder treatment, engaging the patient and their family members to enact a personalized, evidence-based plan.

Technology is also evolving in step with increased awareness and understanding of anxiety and trauma, making everyday stressors easier to take in stride. For example, apps that lead users through stress relief activities, such as journaling or guided meditation sessions, can help those with eating disorders navigate environmental triggers as they arise. Make sure to explore whether these tools are available to you through your health plan and workplace well-being products, such as CVS Health's Resources for Living.

The More We Know, the More We Can Do

Unfortunately, disordered eating and eating disorders flourish in secrecy. Shame can compound mental health issues for someone with an eating disorder, exacerbate damaging behaviors, and prevent them from seeking timely and effective care. It also can prevent them from being open with loved ones, and they may find even well-meaning comments triggering.

Recent data indicates that, thankfully, attitudes toward mental health in general are changing for the better. As we engage in much-needed conversations about anxiety, depression and other experiences on the mental well-being continuum, it's critical that we include eating disorders in these conversations. Discussing symptoms and sharing stories of recovery can help combat the stereotypes and stigmas that prevent people from recognizing important signs, seeking treatment and getting on the road to recovery.

Copyright 2023 U.S. News & World Report

Hebrew U Scientists Reveal Molecular Mechanism For Autism

(JNS) Scientists at the Hebrew University of Jerusalem have identified a new molecular mechanism for autism, potentially opening up new methods of treatment.

Dr. Haitham Amal and his team at the university's School of Pharmacy in the Faculty of Medicine discovered a direct connection between nitric oxide (NO) levels in the brain and behaviors associated with Autism Spectrum Disorder.

Courtesy

Hebrew University of Jerusalem professor Haitham Amal. Courtesy

Their research was published on May 22 in the Advanced Science journal.

In the study, titled, "The NO Answer for Autism Spectrum Disorder," researchers found elevated nitric oxide indicators in stem cells and blood samples taken from low-functioning autistic patients, and in the brains of mice with a genetic form of autism. Nitric oxide is a free-radical neurotransmitter naturally contained in the mammalian body.

The team studied mice treated with drugs that increased nitric oxide levels, and induced autism-like behaviors. They then used a drug to block production of nitric oxide and found a decline in such behaviors.

They also found that by blocking the production of nitric oxide in mice, they were able to reverse the autism-like behaviors, molecular biomarkers and brain-cell structural changes associated with elevated nitric oxide levels.

In studies of brain cells derived from the stem cells of patients with a genetic form of autism, they were also able to reduce biomarkers of elevated nitric oxide.

"This is the first step in developing a drug that might address autism," said Amal. "Very few molecular mechanisms are known in autism," he added.

He noted that it is already well established that nitric oxide is elevated in patients with Alzheimer's Disease, schizophrenia and bipolar disorder. However, he added, we currently have no knowledge of the human normal baseline level for nitric oxide.

"We know that when there is an increase in calcium levels, it increases the production of nitric oxide.  We are working at pinpointing part of the mechanism that may lead to autism," he said.

ASD is a neurological and developmental disorder that affects communication, learning and behavior.  Known as a "spectrum" disorder, there is wide variation in the type and severity of symptoms.

At the high end of the spectrum, people with ASD can be extremely intelligent, but may have challenges interpreting social cues, making eye contact and empathizing with others. They may engage in repetitive behaviors like rocking or shaking, make noises (called "stimming") and get anxious when things appear disordered or beyond their usual routines.

But those same "repetitive motions" can produce intricately designed paintings, graphic design, computer programs or musical compositions and can calm them when they are feeling overwhelmed. And their obsessions with specific topics can make them quirky and brilliant experts on esoteric subjects.

At the low end of the spectrum, communication can grind to a stop.  Some are non-verbal or lose their speech function early in life, and some lack the ability to perform many basic necessary tasks.

According to the World Health Organization, it is estimated that worldwide about 1 in 100 children have autism. In Israel, approximately 30,000 children under age 18 are currently diagnosed with ASD. Israel has special education "communications" programs with therapeutic services from nursery school on.

The Israel Defense Forces even has a special unit, called Titkadmu, for teens on the autism spectrum.

To date there is no pharmacologic "cure" for ASD, although anti-anxiety and anti-psychotic drugs, as well as stimulants, can be used to address some of the symptoms known to accompany the developmental disorder.

Children diagnosed with ASD are currently treated with physical and occupational and behavioral therapy, and the Israeli educational system offers early intervention as well as special communication classes and eventually mainstreaming options that help children develop social skills.

For the more severely affected, there are dedicated communications schools.

According to Amal, the Hebrew University is already in the process of developing a drug together with a U.S. Pharmaceutical company. However, the process is in very initial states and likely won't be ready for clinical trials for several years yet, he added.

The drug is being designed to reduce oxidative stress on the brain, he said.

Amal, who began his journey on ASD and Alzheimer's disease in a postdoctoral fellowship at MIT, has published over 23 papers on cancer, autism, Alzheimer's disease and other brain disorders. It was during his time at MIT that he first published a paper demonstrating a link between nitric oxide and autism.

According to Amal, using a nitric oxide inhibitor to reduce nitric oxide would be thoroughly different from any of the medications currently being used to address autism, and also from the antipsychotics used to treat bipolar disorder and schizophrenia.

However, he emphasized that it would be years yet before a drug was ready for clinical testing.

"Developing a drug is a long-term prospect," explained Amal.  "We will test toxicological studies to satisfy FDA regulations.  If there is a problem at any point, it could slow down the process.  After the toxicological studies are complete and it passes the test, they can first start human clinical trials."

To read more content visit www.Jns.Org

---