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Genetics

Understanding the effect genetics have on Alzheimer’s – Buffalo News

Alzheimer's disease is a neurological condition that worsens with time and mainly affects the elderly. It causes changes in personality, memory loss, and cognitive impairment. It is the most frequent form of dementia, a collection of brain abnormalities that impair social and intellectual abilities to the point that they become too great to be useful for day-to-day living. The buildup of tau tangles and amyloid plaques in the brain, which impair neuronal transmission and cause cell death, is the hallmark of the illness.

Alzheimer's disease comes in two primary forms: early-onset and late-onset. While the symptoms of both kinds are similar, there are notable differences between them in terms of the age at which symptoms initially manifest and their underlying genetic makeup. So, this leads to the question:is Alzheimer's genetic?

Late-onset is the most prevalent kind of Alzheimer's disease, which usually first appears after age 65. This kind affects a large population; around 10% of Americans 65 years of age and older have a diagnosis. With age comes a huge rise in danger. There are both hereditary and non-hereditary variables that lead to late-onset Alzheimer's disease.

An important genetic component of Alzheimer's disease with a late start is the e4 variation of the APOE gene. Apolipoprotein E, a protein involved in the body's metabolism of fats, is encoded by the APOE gene. This gene has three common variations, e2, e3, and e4. Alzheimer's disease risk is increased in those with the e4 variation. A single copy of the e4 allele increases risk by three times, whereas two copies raise risk by eight to twelve times. It is crucial to remember that not everyone who carries the e4 variation will have Alzheimer's; some people may still have the illness. This implies that there may be other genetic, environmental, and behavioral variables involved.

Less than 1% of instances of Alzheimer's disease are early-onset, making it a far more uncommon condition. Typically, people in their 30s, 40s, or 50s have symptoms. The genetics of this kind of Alzheimer's frequently play a significant role. Early-onset Alzheimer's disease is mostly linked to three genes: APP, PSEN1, and PSEN2. Amyloid plaques can build up in the brain as a result of aberrant proteins produced by mutations in these genes.

Families with a history of Alzheimer's disease that developed slowly frequently show signs of autosomal dominant inheritance. This indicates that there is a 50% possibility that an offspring will inherit a mutant gene and might acquire the disease if one parent possesses the mutation.

Non-genetic variables increase an individual's risk of Alzheimer's disease, even if hereditary factors account for a large portion of the illness's development. The biggest risk factor is becoming older, especially if you have late-onset Alzheimer's. Lifestyle, general brain health, and cardiovascular health are additional risk factors. Alzheimer's disease risk can also be raised by cardiovascular health conditions such asdiabetes, hypertension, and high cholesterol. Lifestyle elements like nutrition, physical activity, and intellectual pursuits are also crucial. Research indicates that participating in cognitively stimulating activities, maintaining a nutritious diet, and getting regular exercise can lower the risk of cognitive decline.

The answer to the question, "Is Alzheimer's genetic?" is not simple. The likelihood of developing the illness is influenced by both hereditary and non-genetic variables. Although some genetic variations, such as APOE e4, greatly raise risk, they do not control outcome. Important roles are also played by lifestyle and environmental variables. Having a thorough understanding of these variables can aid in the development of management and preventative plans. Our understanding of the interaction between genetics and other risk factors is changing as research advances, which gives us hope for improved treatments and preventive actions in the future.

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Understanding the effect genetics have on Alzheimer's - Buffalo News

Genetics

‘Fossil viruses’ embedded in the human genome linked to psychiatric disorders – Livescience.com

Ancient viral DNA embedded in the human genome may boost people's susceptibility to neuropsychiatric disorders, such as depression, bipolar disorder and schizophrenia.

A study published in May in the journal Nature Communications zoomed in on human endogenous retroviruses (HERVs) snippets of DNA that form approximately 8% of the modern human genome.

Psychiatric disorders tend to run in families, and studies of twins have also hinted that genetics plays a role in whether people develop them. Estimates suggest that schizophrenia and bipolar disorder may have a heritability as high as 80%, meaning most of the variability seen in these disorders comes down to differences in people's genetics.

Specific versions of genes, or gene variants, have been tied to these disorders, but not much is known about the influence of HERVs.

Related: Common cold virus may predate modern humans, ancient DNA hints

"We were fascinated by the concept that [HERVs] existed in the human genome and so much was not known about them," study co-author Timothy Powell, a neuroscientist and molecular geneticist at King's College London, told Live Science.

HERVs are bits of viruses that have been woven into the human genome over evolutionary time, with the oldest examples introduced to our ancestors over 1.2 million years ago. Some HERVs are known to be switched on in cancer cells, and they may contribute to the disease; others are active in healthy tissues or play important roles in early development, so they're not necessarily all bad. Some HERVs are even active in the brain, but it's not yet clear what they're up to.

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Previously, scientists have studied the role of HERVs in psychiatric disorders by comparing the genetic material of individuals without such disorders with that of people affected by a given disorder. A drawback of this method, however, is that it doesn't account for the influence of environmental factors or other conditions a person may have. This makes it difficult to say with certainty that a given stretch of DNA, in isolation, is strongly associated with the disorder.

The new study used a different approach to weigh the effects of thousands of HERVs. The researchers accessed genetic data from previous studies that involved tens of thousands of people, as well as from postmortem brain tissue samples collected from nearly 800 patients with and without psychiatric disorders. They then studied which gene variants different individuals carried, noting whether they seemed to affect nearby HERVs.

They found that specific gene variants were associated with a higher risk of three psychiatric disorders schizophrenia, depression and bipolar disorder. These variants also affected whether HERVs in the brain were "switched on" and to what degree.

"This [association] gives us much more certainty that the genetic differences we're seeing between cases and controls are more likely to be a true reflection of the biology of the disorder," Rodrigo Duarte, a research fellow at King's College London, told Live Science.

The team is the first to identify five new HERVs strongly tied to psychiatric disorders. Two were associated with schizophrenia, one was common to schizophrenia and bipolar disorder, and one was specific to major depressive disorder. These five HERVs are distinct from any previously linked with each of the conditions.

"It is a major advancement," said Dr. Avindra Nath, clinical director at the National Institute of Neurological Disorders and Stroke who was not involved in the study. "The way that we've been studying all these other neurological diseases, we need to look at them again using their technique," Nath told Live Science.

The study suggests that these HERVs enhance the chances of developing the disorders, but at this point, not much can be said for how much these genetic snippets boost an individual person's risk. Carrying one of the HERVs doesn't necessarily guarantee a person will be affected by the linked disorder.

Going forward, the group plans to manipulate HERV activity in brain cells in lab dishes to see whether they affect the way the neurons grow and form connections.

"From a genetic standpoint, it's an advancement of the field," Nath said. "But from a pathogenesis standpoint, much remains to be answered" about how the HERVs actually contribute to disease.

Ever wonder why some people build muscle more easily than others or why freckles come out in the sun? Send us your questions about how the human body works to community@livescience.com with the subject line "Health Desk Q," and you may see your question answered on the website!

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'Fossil viruses' embedded in the human genome linked to psychiatric disorders - Livescience.com

Genetics

Genes Link Sleep Patterns to Autism and Bipolar Disorder – Neuroscience News

Summary: Researchers found genetic associations between sleep patterns and neuropsychiatric conditions like autism, ADHD, and bipolar disorder. Polygenic risk score analysis revealed that autism and schizophrenia link to evening chronotype, while ADHD, schizophrenia, and bipolar disorder link to insomnia. These insights may lead to new therapies for sleep disturbances in these patients.

Key Facts:

Source: European Society of Human Genetics

Disturbed sleep is very common in almost all neuropsychiatric and neurodevelopmental conditions (NDPCs), such as autism, attention deficit and hyperactivity disorder, schizophrenia, and bipolar disorder.

While it is understandable that the symptoms of such conditions would lead to sleep disruption and also that sleep disruption would worsen symptoms in these conditions, Irish researchers have now found new genetic associations between some of these conditions and chronotype, the behavioural manifestations of an individuals circadian rhythm (night owl or early bird).

These findings may point the way to the development of new therapies for patients.

Presenting the results of the study to the annual conference of the European Society of Human Genetics today (Tuesday), Dr Laura Fahey, a postdoctoral researcher in the Family Genomics Research Group, Maynooth University, Republic of Ireland, will say that sleep disturbances are known to predate the onset of major depressive disorder and bipolar disorder, and that polygenic score analysis can identity whether these conditions and sleep traits share genetic variation.

The researchers therefore used polygenic risk score analysis on large-scale genetic studies of NDPCs to test their ability to predict chronotype and insomnia in over 409,000 participants in the UK Biobank.

Their findings strengthen known genetic correlation results in that they show that polygenic scores for autism and schizophrenia are associated with an evening chronotype, while polygenic scores for attention-deficit/hyperactivity disorder, schizophrenia, and bipolar disorder are associated with insomnia.

We also identified novel associations between bipolar disorder and chronotype, as well as insomnia and autism, says Dr Fahey.

These are interesting insights into the genetic basis of sleep disruption, and may open new research avenues for the treatment of sleep and circadian rhythm disturbances in these patients.

The finding that shared genetic variation between bipolar disorder and chronotype was enriched (overrepresented) in a pathway* called NRF2-KEAP1 was interesting to us, as the NRF2 pathway was previously linked to the pathology of bipolar disorder and schizophrenia.

Additionally, NRF2 has previously been shown to be rhythmically regulated by circadian clock genes.

However, it was surprising that there was no enrichment of shared genetic variation in any biological pathway for the other sleep-NDPC phenotype pairs investigated. This was particularly surprising for ADHD and insomnia, as we found these two phenotypes to have the strongest genome-wide correlation.

A reason for this could be that the shared genetic variation is highly polygenic, affecting all biological pathways somewhat equally. It could also be that this shared genetic variation is enriched in cell- or tissue-specific pathways, which we did not explore, Dr Fahey says.

The researchers also intend to test polygenic scores from more diverse populations, the UK Biobank data used in their study being on individuals of white British ancestry.

We need to know whether this work can be applied to other population groups, says Dr Fahey, since we hope that our work may contribute to the development of predictive and preventive interventions in the future..

Further research could also investigate the impact of the genetic variation found in the biological pathways identified by the scientists as influencing circadian rhythm; for example, whether there are specific subsets of patients with these changes where it would be useful to look for differences in gene expression.

However, the next stage of my research project will take a broader perspective and aim to better understand the genetic architecture using different methods and investigating both rare and common genetic variations underlying sleep and circadian rhythm disturbances in NDPCs, Dr Fahey says.

Professor Alexandre Reymond, from the Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland, and chair of the conference, said: It is interesting to see that perturbations of the same molecular pathways are associated with distinct phenotypes (bipolar disorder/schizophrenia and chronotype), a phenomenon called pleiotropy.

It is tantalising to think that, if we are in presence of direct pleiotropy where one trait influences the other trait, we may have some hints about possible treatments.

Note:

* Gene-regulation pathways turn genes on and off. Such action is vital because genes provide the recipe by which cells produce proteins, which are the key components needed to carry out nearly every task in the body.

Author: Mary Rice Source: European Society of Human Genetics Contact: Mary Rice European Society of Human Genetics Image: The image is credited to Neuroscience News

Original Research: The findings will be presented at the European Society of Human Genetics annual conference

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Genes Link Sleep Patterns to Autism and Bipolar Disorder - Neuroscience News

Pediatrics

Weekly review: Drowning prevention, coding updates, and more – Contemporary Pediatrics

Thank you for visiting the Contemporary Pediatrics website. Take a look at some of our top stories from last week (Monday, June 3, to Friday, June 7, 2024), and click on each link to read and watch anything you may have missed.

1.) With drownings on the rise, prevention conversations with caregivers are crucial

Drowning is something that happens quickly, it happens usually insidiously, and [it is] really difficult to unwind the damage from drowning as time goes by, said James Barry, MD, a pediatric emergency medicine fellow in Rochester, New York. It is why the National Drowning Prevention Alliance (NDPA) and the American Academy of Pediatrics (AAP) held a joint virtual panel to discuss drowning prevention strategies this summer.

Click here for the full article.

2.) 2024 coding update

This article will detail how a recently activated code, G2211, will increase practice revenue and provider compensation. It may take some time, however, for insurance carriers to begin reimbursing for this add-on code, so pediatricians should be prepared to challenge rejected claims.

Click here for the full article from Andrew J. Schuman, MD.

3.) Now available: upadacitinib to treat JIA, psoriatic arthritis in patients 2 years and up

Upadacitinib (RINVOQ; AbbVie) is now available for patients aged 2 years and older with active polyarticular juvenile idiopathic arthritis (pJIA) and psoriatic arthritis (PsA) who have had an inadequate response or intolerance to 1 or more tumor necrosis factor (TNF) blockers, according to a press release from AbbVie.

Additionally, the company announced that a new, weight-based oral solution RINVOQ LQ, is now available as an option for the pediatric populations.

Click here for the full article.

4.) Use of monoclonal antibodies for idiopathic chronic eosinophilic pneumonia

Investigators of a study published in BMC Pulmonary Medicine aimed to describe the type of evidence and extent of research regarding the use of monoclonal antibodies for idiopathic chronic eosinophilic pneumonia (ICEP), to control the disease and limit secondary effects.

Click here for full study details.

5.) FDA approves increased amifampridine maximum daily dose to treat Lambert-Eaton myasthenic syndrome

With the federal agency's decision, the maximum daily dose increased from 80 mg to 100 mg, for adults and pediatric patients who weigh more than 45 kg, allowing for greater flexibility in treatment regimens for the management of LEMS.

Click here for full approval details.

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Weekly review: Drowning prevention, coding updates, and more - Contemporary Pediatrics

Pediatrics

A call to action for pediatrics: Caring for students with learning disabilities in custody and community settings | Pediatric … – Nature.com

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Mallett, C. A., Quinn, L., Yun, J. & Fukushima-Tedor, M. The Learning Disabilities-to-Prison pipeline: Evidence From the Add Health National Longitudinal Study. Crime. Delinq. 69, 26432677 (2023).

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A call to action for pediatrics: Caring for students with learning disabilities in custody and community settings | Pediatric ... - Nature.com

Pediatrics

Milestones Pediatrics begins summer camp with sports at Rec Center – The Post-Searchlight – Post Searchlight

Published 12:30 pm Friday, June 7, 2024

With school out and summer in full swing, multiple summer youth programs are underway. One of these is Milestone Pediatric Therapys Camp Milestones, offered to children with behavioral, speech and physical disabilities. The camp will last through to July, with each week having a particular theme. This weeks theme is Sports Week, with the Recreation Authority offering the new Rec Facility for the week.

Kristen Palmer, CFO and occupational therapist at Milestone, spoke to the Post-Searchlight about the camps themes this year.

Next week is Farm Week, itll be at Spring Hill Tree Farm, she said. Then we have Self-Care Week, Water Week is the last week of June. In July we have Circus Week, and Camping Week.

This year has seen 140 children register for Camp Milestone, divided up into six groups a day. Aside from taking advantage of the new Recreation Facility, Camp Week will also see the kids visited by Smokey the Bear for the first time.

Im just grateful for the support of the community, all of our sponsors, Palmer said. We have a lot of young, adolescent and college-age volunteers that devote their time, and so we could not pull it off without them. She also thanked the Pilot Club for their donations.

Anyone looking to make a donation, be it money, food, or supplies, can either drop it off at Milestones office at 118 River Street, or call to arrange a pick-up.

Originally posted here:

Milestones Pediatrics begins summer camp with sports at Rec Center - The Post-Searchlight - Post Searchlight

Pediatrics

Pediatric Associates to Deploy Innovaccer’s AI Platform to Enhance Quality of Care for 1.5 Million Patients – HIT Consultant

What You Should Know:

Pediatrics Associates, the leading private pediatric primary care group in the US, has partnered with Innovaccer Inc., a leader in healthcare artificial intelligence (AI).

The collaboration aims to leverage AI and data analytics to improve the quality of care for Pediatrics Associates over 1.5 million patients across 7 states.

Focus on Value-Based Care and Population Health

Pediatrics Associates prioritizes delivering comprehensive medical care to children and families. Their business model emphasizes value-based care and population health management (PHM). Innovaccers AI-powered PHM solution will equip them with the insights needed to effectively manage the health outcomes of their large patient population. This partnership signifies a shared commitment to using advanced technology to achieve superior healthcare outcomes.

Transforming Care Delivery with AI

The Innovaccer Healthcare AI Platform will empower Pediatrics Associates to:

We have an established relationship with the Pediatrics Associates team, and we are excited to be working with them again as we are setting a new standard for healthcare, where technology and compassion converge to enrich the lives of children and their families, said Abhinav Shashank, cofounder and CEO at Innovaccer. Pediatric Associates has an impressive track record in managing over 1.5 million lives across Medicaid and commercial contracts. Innovaccers AI-powered, scalable PHM platform will help them effectively manage patient populations to meet their goal of managing over 1 million covered lives in the next two years. We look forward to supporting Pediatric Associates in its mission to launch a new era of pediatric care that is both proactive and profoundly impactful.

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Pediatric Associates to Deploy Innovaccer's AI Platform to Enhance Quality of Care for 1.5 Million Patients - HIT Consultant

Pediatrics

With drownings on the rise, prevention conversations with caregivers are crucial – Contemporary Pediatrics

With drownings on the rise, prevention conversations with caregivers are crucial | Image Credit: nata777_7 - nata777_7 - stock.adobe.com.

Drowning is something that happens quickly, it happens usually insidiously, and [it is] really difficult to unwind the damage from drowning as time goes by, said James Barry, MD, a pediatric emergency medicine fellow in Rochester, New York. It is why the National Drowning Prevention Alliance (NDPA) and the American Academy of Pediatrics (AAP) held a joint virtual panel to discuss drowning prevention strategies this summer.1

According to the Centers for Disease Control and Prevention (CDC), as of May 14, 2024, drowning deaths are on the rise in the United States, with over 4500 deaths reported each year from 2020 to 2022. These figures are 500 more per year compared to 2019. In children aged 1 to 4 years, drowning is the No. 1 cause of death in the United States.2

The best way to explain drowning to anybody is when you're submerged in water, you have this kind of panic response and you start flailing and at some point, you take a breath, said Barry. A breath leads to an aspiration or breathing in of the water, and that can disrupt the way that your body transitions oxygen and carbon dioxide across the lung and it actually disrupts the surface tension of the lungs, so you experience a lot of collapse of the lung. That leads to hypoxemia, or low blood oxygen, which can lead to loss of consciousness or apnea. That leads to bradycardia, which leads to arrest and then you have a lot of pulmonary edema, you can have neurovascular compromise.

Prevention strategies can save lives, which is why it is important that your patients caregivers and family members understand signs and symptoms and how to execute prevention initiatives that are lacking across the country. The CDC stated in a May 2024 report that nearly 40 million adults in the United States do not know how to swim, and over half of adults have never taken a swimming lesson.2

Something that I recommend to parents, even if it's a weekend course, even if it's a day with an EMS team, learning about rescue breathing, learning about basic life support is critical in preventing some of the long-term damage that happens after drowning, said Barry. The quicker that you're able to take care of the patient, the better their outcome will be.

Access to these lessons and courses has played a role in the recent rise in drownings across the country according to the CDC, which stated that self-reported swimming ability can be linked to access based on historical and social factors. Cost associated with swimming lessons or overall availability of lessons in some communities are factors that may have contributed to the 40 million adults who do not know how to swim.2

Disparities have also emerged in the research, as the CDC noted the highest drowning rates were among non-Hispanic American Indian or Alaska Native and non-Hispanic Black persons. The federal agency reported that 63% of Black adults and 72% of Hispanic adults reported never taking a swimming lesson.2

The CDC, NDPA, and AAP remind providers, and caregivers directly, how important basic prevention strategies are, such as fences that fully enclose and separate the pool from the house. They should be at least 4 feet high with self-closing and self-latching gates, according to the CDC.2

It's very important to have a fence around a pool, Barry reiterated. [Wearing a] life jacket at all times in any kind of watercraft [is also important]. A lot of pediatricians do a really good job of this, but it's always important to remind families with intellectually or cognitively delayed or impaired children, [that} they should have a lifejacket on regardless of what body of water they're in. Regardless of who's with them. It's extremely important for those patients.

Drowning rates are significantly higher for children and youth with special health care needs, especially neurodivergent kids and adolescents and those with seizure disorders, said Benjamin D. Hoffman, MD, FAAP, president of the AAP, in a Letter from the President published in May 2024. Building awareness and supporting programs to help address these kids needs can save lives.3

In toddlers, the AAP noted backyard pools present the greatest risk for drowning. Its important to recognize children are entertained by water, and if they can get to water, they will, said Hoffman in a May 2024 virtual panel. And if they get to water when there arent barriers in place to prevent access, tragedy can ensue.1

Treating drowning quickly and robustly is critical after a submersion incident, even if that incident doesnt seem serious.

It's really important for those children to get evaluated if they are having those pulmonary symptoms in the first 8 hours, even if you feel like it wasn't a real submersion, said Barry. I say this to every pediatrician as an emergency doctor, if you have a concern about the child after submersion incident, send them into the emergency department (ED). It's always important to just get that screened chest X ray to see if there's any kind of pulmonary injury to prevent a lot of that compromise later.

When it comes to drowning prevention, it starts with caregivers and parents, as theyre going to be the primary personnel dealing with a submersion incident or water difficulties in general that involve their child.

Its really important to counsel parents on water safety, Barry added. Counsel parents on making sure their children know how to swim, making sure their children know how to put on a life jacket and wear life jacket properly. Its critical to kind of press parents on these skills, these ways to recognize, and these supervision techniques that they should be practicing.

References:

1. NDPA And AAP share life-saving insights on childhood drowning prevention ahead of official start of summer and water recreation season. NDPA. Press release. May 24, 2024. Accessed June 6, 2024. https://ndpa.org/ndpa-and-aap-share-life-saving-insights-on-childhood-drowning-prevention-ahead-of-official-start-of-summer-and-water-recreation-season/

2. Drowning deaths rise in the United States. CDC. Press release. May 14, 2024. Accessed June 6, 2024. https://www.cdc.gov/media/releases/2024/s0514-vs-drowning.html

3. Hoffman B. Warmer weather leads to more drownings; what you can do to keep kids safe. AAP News. May 1, 2024. Accessed June 6, 2024. https://publications.aap.org/aapnews/news/28682/Warmer-weather-leads-to-more-drownings-what-you?searchresult=1?autologincheck=redirected

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With drownings on the rise, prevention conversations with caregivers are crucial - Contemporary Pediatrics

Pediatrics

Chief Nursing Officer Honored with Miracle Maker Award – URMC

After more than 45 years serving as a nurse, a nurse practitioner, and a nursing leader at URMC, Sue Bezek, the chief nursing officer at Golisano Childrens Hospital, will be retiring.

Her career has been definedfrom the very beginningby a philosophy that emphasizes putting the needs of patients and families first.

Making a difference for people who were struggling with their health is what drew me in to the field, she said.

It didnt take long for Bezek to find a path in nursing that enabled her to fulfill this goal. While earning her BSN from Villa Maria College, Bezek became enamored with pediatrics during one of her training rotations as a student nurse. Her first nursing position was on the Infant and Toddler unit (4-1600) at Strong Memorial Hospital (SMH). After a year on that unit, she sought to augment her clinical skills in a pediatric intensive-care area and transferred to the NICU.

Soon after her transition to the NICU, she was elevated to the position of nurse leader. I think I was somebody who had an affinity for problem solving, but I still had to grow my skills to navigate the challenges of leadership, she said.

One of these challenges was earning the trust and respect of her peers after being promoted into leadership so early in her career. Bezek accomplished this by emphasizing collaborative problem solving with her team.

I would approach an issue and offer to the team: Heres how I think we could solve it, would you do it this way? How can we collaborate in finding solutions?

After two-and-a-half years in this position, Bezek took on a new role when the URMC Ambulatory Surgical Center opened in December of 1984. Bezek served as a Level II staff nurse, and was the only nurse on staff who had previous experience in pediatrics.

Bezeks three years in that position offered a great experience to learn about patients and clinicians across the URMC system, all while serving as a resource for her peers about pediatric care. I learned skills from my colleagues about caring for adult patients but also helped them learn about the care of children, she said.

While working at the ambulatory center, Bezek began her pursuit of an advanced educational degree in nursing and received a Pediatric Nurse Practitioner degree from the University of Rochester. She subsequently transitioned to serving as a Nurse Practitioner (NP) in various Pediatric Divisions in progressively more responsible roles.

Throughout these roles from serving as the first PNP in the new Pediatric HIV Program and then as a PNP in the Pediatric Primary Care Practice, to eventually ascending to senior leadership at GCH Bezek has been guided by words of Dr. Elizabeth McAnarney, former chair of the Department of Pediatrics.

She told me: If you keep your decisions focused on the right thing to do for the patient and family, all the other things will fall into place, said Bezek.

Bezek applied this approach at every level, first as a practicing NP serving patients directly, then in subsequent leadership roles as a senior nurse manager of the Outpatient clinic, followed by associate director of the Sovie Center for Advanced Practice, and subsequently, the director of pediatric nursing and then the inaugural Chief Nursing Officer for Golisano Childrens Hospital.

In leadership, you dont necessarily see your impact on a patient-to-patient basis, so you have to really listen to your team, who have these day-to-day experiences with patients and their families, and do collaborative problem solving while trusting their perspective, she said. This team-focused collaboration has also resulted in advocacy for initiatives that were aimed at improving both patient and staff safety in the past few years.

Through her tenure in leadership, Bezek focused on serving the needs of patients on a population-health level. As her responsibilities grew, so did GCH, from one floor on SMH to the major world-class facility that it is now. During this time, Bezek also witnessed the landscape of pediatric health care change.

The patient population that we care for is much more acute and complex than when I first started. The families have information at their fingertips through the internet. They have multiple, well-researched, and detailed questions that can make things tougher for clinicians to be at the ready for them and answer in a timely fashion. This requires more collaboration across specialties and more shared knowledge in order for us to serve families best, she said.

Sue Bezeks ability to solve problems creatively, build highly effective teams, and remain laser-focused on provision of high quality, family-centered care have made her an effective leader that has contributed greatly to the growth of GCH, according to Tim Stevens, MD, Chief Clinical Officer at GCH.

Nurses are the first point of care for many of our patients, so fostering a strong patient-first nursing culture is critical for building trust with our community, he said. Sue brings a thoughtful, inclusive, and family-focused approach to leadership that has shown great results toward helping children in the region and beyond.

In addition to her experience as a clinician and leader, Bezek has co-authored a few book chapters, has guest lectured at the University of Rochester School of Nursing, and has won several awards, including the 2010 Ruth Lawrence Academic Faculty Service Award in Community Service, and the 2012 Excellence in Nursing Leadership Award and the 2016 March of Dimes Nurse of the Year in Leadership.

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Chief Nursing Officer Honored with Miracle Maker Award - URMC