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Trauma Director Puts Patients First

Emergency vehicle heading towards an emergency room


As he marks his first year as Medical Director of Trauma at UConn Health, Dr. Ryan Millea hasn’t lost focus on what drives him, whether responding at a moment’s notice to the surgical needs of a car accident victim or to an intensive care patient with a life-threatening gastrointestinal burst.

“My philosophy is to always deliver patient-centered care,” says Millea, who is also a general and critical care surgeon. “I’m very hands-on to improve a patient’s overall experience. No one likes being sick, so I try to make things as seamless and smooth as possible from preoperative care to recovery.”

I’m very hands-on to improve a patient’s overall experience.

Millea applies this attitude not only on a patient-by-patient level but also through large-scale initiatives to better the experience of all surgical and critical care patients.
For one, Millea is leading efforts to make UConn John Dempsey Hospital an American College of Surgeons–verified trauma center, improving systems to optimize trauma care and become a certified center of excellence for patients in the Farmington Valley.

In addition to overseeing the treatment of each critically ill trauma patient at UConn Health, Millea’s board certifications and experience in general surgery and surgical critical care mean he can provide a wide range of skilled care.

“My experience as a critical care surgeon allows me to treat the highest- risk patients who have complex, coexisting medical issues such as high blood pressure, diabetes, heart disease, and lung disease,” Millea says.

As a general surgeon, Millea focuses primarily on surgeries involving the gastrointestinal tract, including appendix or gallbladder removals and hernia surgeries.
Because of his dedication to maintaining an excellent experience for his patients, the majority of general surgical procedures Millea conducts are outpatient, minimally invasive procedures, often done laparoscopically. Recently, Millea and other general surgeons at UConn Health began offering robotic general surgery operations for such procedures as complex hernia repair.

A Massachusetts native, Millea says UConn Health is the perfect place to put his unique skill set to use.

“I joined UConn Health to be part of an academic medical institution with a strong focus on patient care. A cutting-edge academic medical center affords each of my patients access to the most modern approaches and treatments for their surgical diseases.”

Sharing Knowledge for Better Patient Care

Q&A with Dr. Leo J. Wolansky, professor and chair of UConn Radiology

Q

You’ve spearheaded a teaching tool on the UConn Health Radiology website that features cases with images, diagnoses, and even a quiz mode. Where did this idea come from, and how do you envision physicians using it?

Technology has changed the way we get information, and we find that most people answer questions by looking online. Radiology, which relies so heavily on technology, is a specialty that is much more visual than most other fields of medicine. Every day we encounter an abundance of complex digital images created by sophisticated equipment. The digital images can be captured, uploaded, and sent throughout the world with relatively little effort. I thought it would be a waste not to share this valuable material with everyone.

Medical students and radiology residents will likely use it the most. Furthermore, resident doctors in many different fields are tested on the imaging that relates to their specialty. Even after their training, patients expect doctors and other providers to be knowledgeable about everything related to their care, including imaging. Radiology Online can further educate providers and even educate patients about their health. It also provides the contributing physicians and students from UConn as well as other institutions with an academic outlet that is beneficial for career development. It’s UConn’s own open-access radiology review book.


Q

What other projects are you focused on?

We have a number of other initiatives, such as the Linda Clemens Foundation Free Mammogram Program, which provides funds for screening and diagnostic mammograms, breast ultrasounds, and breast biopsies for uninsured and underinsured UConn Health patients. We have added a new CT scanner in the Musculoskeletal Institute building that will increase our capacity significantly and will create a more patient-friendly outpatient setting. We will also offer weekend MRI appointments at the Musculoskeletal Institute. Additionally, we have a new attending, Dr. Abner Gershon, who strengthens our stroke service and is opening a minimally invasive neck and back pain clinic. In the area of nuclear medicine, we are now offering DaTscan brain scans for differentiation of Parkinsonian syndromes from essential tremor.


Q

What can you tell us about the new imaging center in Storrs? How will it benefit patients in the area?

When I started here, I immediately saw how important to the state the UConn athletics program is. It seemed strange that it was so difficult for us to image our own athletes, or any UConn students, in Storrs. From my previous research, I was aware of the Brain Imaging Research Center (BIRC) in Storrs, which has a fabulous scanner. It occurred to me that their MRI scanner could provide patient care without interfering with the research mission of the BIRC.

Once we converted it, we’d be able to read the images here at UConn Health. This would allow us to care for our own student-athletes, other students, faculty, staff, as well as the general public in the Storrs area, sparing them the 45-minute trip to Farmington. I explored a partnership with the BIRC leadership, working closely with Inge-Marie Eigsti, Jay Rueckl, and now the new director, Fumiko Hoeft, who has been extremely helpful. While the scanner will continue to be primarily an instrument of research, soon we will be rolling out this clinical service at the BIRC.

Connecticut Student Researchers Shine

CT researcher

Affrin Ahmed of Bloomfield, a UConn second-year international graduate student majoring in applied genomics, is seen working on her Partnership for Innovation and Education (PIE) summer research project.

Ahmed was among the local college students who presented their innovative projects to distinguished guests including state legislators at UConn Health Aug. 1 during Innovation Fellows Research Day, an event that showcased PIE, a newly launched statewide consortium.

The inaugural class of PIE summer program fellows comprises 79 students from UConn, Trinity College, University of St. Joseph, Central Connecticut State University, Southern Connecticut State University, University of Hartford, and Tunxis Community College.


Advanced Aneurysm Stent Means Safer Treatment

Magnetic resonance image shows a cerebral artery aneurysm.

Magnetic resonance image shows a cerebral artery aneurysm.


A new minimally invasive procedure has emerged as a safe way to treat certain brain aneurysms, and UConn Health’s Division of Neurosurgery is among its earliest adopters. The advancement, based on a stent that’s been in use for a decade, is known as the Neuroform Atlas.

“It’s a microstent,” says Dr. Ketan Bulsara, chief of UConn Health’s Division of Neurosurgery. “Sometimes the anatomy may prevent the navigation of a larger stent into the appropriate target area. The advantage of the microstent is, given its small size and smaller equipment requirements, we may be able to get into areas that we couldn’t normally navigate.”

That ability further broadens the range of lesion types that can be treated through minimally invasive means. Most patients who undergo this procedure can go home the following day.

An aneurysm occurs when part of an artery’s wall weakens, causing the artery to bulge. Aneurysms are usually asymptomatic but in some cases can rupture and cause life-threatening internal bleeding. When this occurs in blood vessels leading to the brain, it causes a hemorrhagic stroke, which requires emergency care.

Once an aneurysm is detected, it is important to get an assessment for its risk of rupture as soon as possible. Bulsara says about a third of patients who suffer a ruptured brain aneurysm die, and another third who make it to the hospital don’t fully recover.

“We’re in a time right now where the technological advancements in devices and microsurgical techniques are being made so rapidly that it’s imperative, to maintain the best possible outcome for all of our patients, that we offer the latest, newest technologies that have been deemed safe,” Bulsara says. “Our use of this stent is another testament to that. It continues to add to our treatment armamentarium and increases the number of diseases we can treat safely.”

The first Neuroform Atlas stent placement at UConn Health was among the 20 cases neurosurgeons completed in UConn Health’s new hybrid operating room within the first month of its opening.

Got Breast Milk?

Lactation consultant Marisa Merlo helps maternity patient Bekkilyn Toone breastfeed her newborn son in UConn Health's labor and delivery unit.

Lactation consultant Marisa Merlo helps maternity patient breastfeed her newborn son in UConn Health’s labor and delivery unit.


UConn John Dempsey Hospital is the first hospital in Connecticut, and only location in the Greater Hartford area, to serve as a milk depot for breast milk donations for newborns in need.

“Our new milk depot is going to benefit our tiniest patients in Neonatal Intensive Care Units (NICUs) across Connecticut and the Northeast, including our very own, the Connecticut Children’s Medical Center NICU here at UConn Health,” says Marisa Merlo, lactation consultant for UConn Health’s Department of Obstetrics and Gynecology.

UConn Health’s milk depot, which opened in August, is the fifth in Connecticut to join Mothers’ Milk Bank Northeast. The nonprofit community milk bank, accredited by the Human Milk Banking Association of North America, distributes donated, pasteurized human milk to babies in fragile health throughout the Northeast.

Women interested in donating their breast milk can contact Mothers’ Milk Bank Northeast (milkbankne.org) directly to apply for eligibility and screening. Once women become eligible to donate, their breast milk donations are accepted by Merlo at UConn Health and safeguarded in the freezer of its new milk depot room. Merlo and her staff safely ship the frozen milk to Mothers’ Milk Bank Northeast for pasteurization and distribution to their network of NICUs.

Not all mothers of newborns can produce a sufficient milk supply. Mothers with premature newborns especially can experience difficulty producing or pumping enough breast milk while their baby is in the NICU. Donor milk is a more beneficial substitute for fragile newborns than formula.

“This new milk depot at UConn Health will make it more accessible, easier, and stress-free for women to donate their breast milk to help other women and their babies,” says Natalee Martin, associate director of development for UConn Health. She chose to donate her breast milk for three months after her daughter turned one to help boost the health of NICU babies.

“I know just how critically important donated breast milk is,” says Martin, who used to work for the March of Dimes. “The fact that the donated milk is staying in the Northeast and Connecticut to help other moms is amazing.”

The new milk depot at UConn Health was founded and made possible with initial donations by Merlo, Martin, obstetrician/gynecologist Dr. Christopher Morosky, and Carrie Ferrindino, nurse manager of Maternal Child Health, for the purchase of a milk freezer.

“The milk depot at UConn John Dempsey Hospital is a wonderful opportunity to provide to our community,” says Ferrindino. “Our goal at UConn Health is to do everything in our power to promote and support healthy moms and healthy babies.”

UConn Health First Hospital in U.S. with Augmented Reality Surgical Microscope

Dr. Ketan Bulsara and Dr. Daniel Roberts use the new augmented reality microscope

Dr. Ketan Bulsara and Dr. Daniel Roberts use the new augmented reality microscope in the hybrid OR at UConn John Dempsey Hospital.


UConn Health is the first hospital in the nation to acquire a high-tech surgical microscope with augmented reality capabilities to visually assist surgeons during complex neurological and spinal surgeries. This technology — the latest added to UConn Health’s state-of-the-art hybrid operating room — provides surgeons with an enhanced 3D visualization of the surgical field at the highest magnification possible. It can also illuminate the blood flow through various brain tissues, making more precise surgical interventions possible.

“The advanced augmented reality, image-guided microscope allows us to go beyond what we can normally see with our naked eye and traditional microscopes. It allows practitioners from multiple surgical specialties to treat even more complex lesions more safely,” says Dr. Ketan Bulsara, chief of the Division of Neurosurgery at UConn Health.

The microscope’s unique FusionOptics technology allows a surgeon to see greater anatomical detail with increased sharpness, such as the tiny distances between the smallest blood vessels and nerve structures, without needing to refocus the microscope. It also has the ability to brightly light up tiny blood vessels in the brain to distinguish them from other surrounding brain tissue, helping surgeons navigate the complex and delicate surgical field.

The microscope also includes a video camera that allows surgeons to choose one of three enhanced overlays to amplify the view of the surgical field. The three views are a real-time, highly magnified naked anatomy; a black-and-white, fluorescence-enhanced view to see greater tissue dimensions and blood flow; and a brightly colored, fluorescence-enhanced view of naturally colored anatomy to see the intricate blood flow and tissue outlines during a microsurgical procedure.

The ARveo Augmented Reality microscope is made by Leica Microsystems, a developer and manufacturer of microscopes and scientific instruments for the analysis of microstructures and nanostructures.

UConn, JAX Confront Pain With First-In-State Consortium

illustration of older man holding back in pain


An estimated 100 million Americans suffer from chronic pain — more than those affected by heart disease, cancer, and diabetes combined, according to The National Academies of Science, Engineering, and Medicine. How best to manage that pain in the face of a nationwide opioid crisis is the question on many practitioners’ minds.

The Connecticut Pain Consortium — a translational pain research and education collaboration between UConn Health, the UConn schools of Medicine and Nursing, and The Jackson Laboratory — aims to help answer it.

Given the broad range of research interests and funding opportunities related to pain, the founders envision that centers across the University and nearly every UConn school and college — particularly the schools of Dental Medicine and Pharmacy — will join the consortium to build mutually beneficial collaborations. Experts from Yale University and hospitals including Connecticut Children’s Medical Center will also be involved.

“There is a clear need for more basic and translational research on human pain and pain management,” says the Consortium’s director, mathematician and computational biologist Reinhard Laubenbacher, a joint faculty member at UConn Health and The Jackson Laboratory for Genomic Medicine.

“And there is a critical unmet need for education and training of providers and patients. This is a great opportunity to deploy our capabilities in pain research and addiction together with our Connecticut partners in an exciting and much-needed statewide initiative.”

The Consortium, the first of its kind in the Connecticut medical community, will establish a portal for pain-related health care data and facilitate research collaborations that leverage state and national resources. It will aim to translate that research into cutting-edge pain management solutions and raise awareness of the many facets of pain, pain management, and potential related ramifications including opioid addiction. The Consortium will contribute to a curriculum on pain research and management for health care providers.

The launch is being funded by a $55,000 planning grant from the Mayday Fund, whose mission is to support projects that close the gap between knowledge and practice in the treatment of pain, to the UConn Foundation. The Consortium has also received support from the UConn Office of the Vice President for Research, the schools of Nursing and Medicine, and the Jackson Laboratory for Genomic Medicine.

“This new consortium builds upon strengths already existing in the School of Medicine, with an existing core of faculty focused on pain research,” says Dr. Bruce T. Liang, dean of the School. “Thanks to this grant, we believe there will be numerous opportunities for advancement in the study and treatment of pain.”

Honor Roll – Fall2018

Wizdom Powell, Ph.D., director of the UConn Health Disparities Institute, was named to the National Advisory Committee for the Robert Wood Johnson Foundation’s Interdisciplinary Research Leaders program.


UConn medical student Tiahna Spencer is one of 34 medical students in the U.S. chosen for the National Institutes of Health Medical Research Scholars Program 2018–19 class.


Dr. Bruce T. Liang, dean of UConn’s medical school, was recognized by The Asian Pacific American Coalition of Connecticut (APAC-CT) at its 2018 gala for his significant contributions to the welfare of the state’s Asian Pacific American community.


Dr. R. Lamont “Monty” MacNeil, recently retired dean of the UConn School of Dental Medicine, received The Fones Medal, the top award from the Connecticut State Dental Association (CSDA), at its annual meeting for his outstanding contributions and dedication to the CSDA and the profession of dentistry.


Paramedic Peter Canning, UConn Health’s emergency medical services (EMS) coordinator, received the Connecticut Department of Public Health Commissioner’s Award at the DPH’s 2018 EMS awards ceremony.


Dr. Rajesh V. Lalla is the new president of the Multinational Association of Supportive Care in Cancer. He will serve a two-year term.


Dr. Marja Hurley has been selected as a Fellow of the American Society for Bone and Mineral Research (ASBMR) Advisory Committee.


Dr. Cato T. Laurencin has been selected by The American Ceramic Society to present the Edward Orton Jr. Memorial Lecture at the 14th annual Materials Science and Technology meeting.

Together for the Kids

By Lauren Woods

Dr. Emily  Germain-Lee  with a patient at the Albright Center at Connecticut Children's Medical Center.

Dr. Emily Germain-Lee with a patient at the Albright Center at Connecticut Children’s Medical Center.
Erin Blinn Curran/ Connecticut Children’s Medical Center


National recognition by external sources such as U.S. News & World Report comes as no surprise to the thousands who pass through Connecticut Children’s Medical Center each year.

What may be unexpected to those patients is that such success is the fruit of a more than 50-year legacy of the pediatric department at UConn School of Medicine advancing pediatric medicine, research, and education in Connecticut — and putting the health of the state’s tiniest residents first.

The life-changing work done by UConn’s Department of Pediatrics is made possible by a special partnership: Connecticut Children’s Medical Center is the teaching hospital where medical students, pediatric residents, and fellows are trained, as well as the home of the faculty’s clinical care work.

“UConn’s Department of Pediatrics’ strong relationship with Connecticut Children’s is excellent and seamless. There is no us and them. We are truly one, and we couldn’t excel without each other,” says Dr. Bruce T. Liang, the dean of the UConn School of Medicine since 2015. Liang has helped expand the two institutions’ joint recruitment of world-renowned physician-scientists and has led much of their growth in pediatric research.

For the Greater Good

The seeds of excellence in pediatric care in the Hartford area were planted in 1967 with the founding of UConn’s Department of Pediatrics, shortly before the medical school admitted its first class in 1968. UConn John Dempsey Hospital offered pediatric hospital care when it opened in 1975. Hartford-area hospitals had an informal agreement not to duplicate pediatric specialty services — patients were transferred among the hospitals based on their specialty care needs.

Connecticut Children’s was born in April 1996 after Newington Children’s Hospital, Hartford Hospital, and John Dempsey voluntarily closed their pediatric services so a comprehensive children’s hospital could open. It was established by state legislation and a 99-year lease of land on Hartford Hospital’s campus for 1 dollar per year. St. Francis Hospital and Medical Center’s pediatric programs were also incorporated. Uniquely, the leadership structure of the new pediatric hospital required that the same individual serve as both UConn’s Department of Pediatrics chair and Connecticut Children’s physician-in-chief.

“I am honored to have seen firsthand the strong evolution in pediatrics since my 1980s UConn pediatric residency training,” says Dr. Juan C. Salazar, who has served in that joint leadership role at UConn and Connecticut Children’s since 2013. “It is amazing that the strengths of four different Hartford hospitals came together for the greater good of our children and continue to offer the best pediatric care. It’s been an incredible success, allowing us to grow pediatrics clinically and educationally, along with our research mission.”

Salazar cites pediatric endocrinologists Dr. David Weinstein and Dr. Emily Germain-Lee as “two of several perfect examples of how the partnership of Connecticut Children’s and UConn really works seamlessly, with clinical services provided at Connecticut Children’s while robust laboratory research and clinical trials are under way at UConn.”

For 2018–19, U.S. News & World Report ranks Connecticut Children’s among the best hospitals in four pediatric specialties: cardiology and heart surgery, diabetes and endocrinology, neonatology, and urology. As one of the state’s largest care providers with 300 faculty members, UConn’s Department of Pediatrics has 31 medical and 13 surgical specialties.


Dr. David Weinstein, head of the Glycogen Storage Disease Program at UConn Health and Connecticut Children’s Medical Center, walks with Alyssa Temkin through the new clinic at Connecticut Children’s.

Dr. David Weinstein with a patient
Peter Morenus


For a Brighter Future

In addition to translational research and top clinical care, UConn Health’s mission includes a third focus on teaching the practitioners of tomorrow. UConn is the largest educator for the state’s pediatric medicine workforce, as up to 60 percent of pediatricians in Connecticut have graduated from UConn’s medical school or its pediatric training programs.

Historically, UConn has also provided the largest pipeline of medical students into the state’s pediatric residency programs — each year up to 20 percent of UConn’s graduating medical school class chooses to specialize in pediatrics, entering residency training programs here or around the country.

“Along with research advancements, our significant focus is the education and training of our next generation of pediatricians and pediatric specialists, many of whom stay right here in Connecticut to serve the state,” says Liang.

UConn and Connecticut Children’s continue to strengthen their partnership in all three areas by building relationships with other organizations.

The two institutions in 2016 joined with another collaborator, The Jackson Laboratory (JAX) for Genomic Medicine located on UConn Health’s campus, to recruit Dr. Ching C. Lau, an internationally recognized pediatric brain and bone tumor clinician and researcher.

UConn and Connecticut Children’s look forward to growing their alliance, Liang says, and are planning joint physician-scientist recruitments in the fields of medical genetics and gastroenterology, as well as further collaborations in maternal-fetal medicine.


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World-renowned physician-scientists across specialties bring to life the vision of Connecticut Children’s Medical Center and UConn School of Medicine’s Department of Pediatrics. Read on to learn about three of the groundbreaking physician-scientists who are currently dedicated to improving the lives of children in Connecticut and around the world.


A Vision for the Future of Pediatric Cancer

In 2016, Connecticut Children’s and UConn joined with another collaborator, The Jackson Laboratory (JAX) for Genomic Medicine located on UConn Health’s campus, to recruit Dr. Ching C. Lau, an internationally recognized pediatric brain and bone tumor clinician and researcher, from Texas Children’s Hospital in Houston.

As medical director of hematology-oncology at Connecticut Children’s and head of the Division of Pediatric Hematology-Oncology in the Department of Pediatrics at UConn, Lau’s JAX-based laboratory aims to leverage new, sophisticated genomic medicine techniques, mouse models, and therapeutic treatments to choose the best therapy for patients and discover new treatments.

When he was awarded the inaugural Martin J. Gavin Endowed Chair in Hematology/Oncology at Connecticut Children’s, Lau said he was attracted to the vision and dedication of Connecticut Children’s Medical Center.

“I dream that one day when I look at a child diagnosed with cancer, I can look him or her in the eye and say, ‘You will be cured without having to come to the hospital for therapy. You just have to go home and take this medicine,’” he said.

Lau is focused on accelerating the pace and success rate of clinical trials in pediatric cancer patients. “Although the incidence of cancer among children is much lower than that in adults,” he says, “it can be just as deadly. And because of the smaller number of patients available, clinical trials of new treatments for pediatric cancers are conducted at a much slower pace. Typically patients are enrolled in clinical trials after their cancers progress or are found not to be responsive to standard therapy.”
As a result, he says, pediatric cancer patients are exposed to side effects of standard therapy without therapeutic benefit. “This is a particularly serious problem for children because they are still undergoing normal growth and are particularly vulnerable to the side effects of anticancer drugs.”

By using the combined approach of genomic medicine and accurate mouse models to choose the best therapy for each patient, Lau hopes to improve the speed and outcome of clinical trials as well as to reduce unnecessary side effects for children with cancer.

One way he’s speeding up the process is through Smash Childhood Cancer, an initiative he’s spearheading for the U.S. alongside international researchers and IBM to find prospective treatments for childhood cancers by conducting millions of virtual experiments to help pinpoint promising drug candidates for further study using IBM’s World Community Grid.

“This kind of research expedites finding new treatments for childhood cancers,” Lau says. “Crowdsourcing computer processing power enables us to perform millions of experiments virtually and will save us years of experiments. It is bringing us that much closer to finding the right drug for each type of cancer.”

 

Administering New Therapy — and Hope

In late July, a patient named Jerrod received a drug infusion that he’s been waiting for his entire life.

Jerrod was the first patient to receive a promising investigational gene therapy to treat glycogen storage disease type Ia, the rare, potentially deadly genetic disorder he was born with. Dr. David Weinstein, a world-renowned pediatric endocrinologist and director of the Glycogen Storage Disease Program at Connecticut Children’s Medical Center and UConn Health, has been working to develop the treatment for two decades and calls the trial “a big leap forward for GSD.”

Healthy livers store excess sugar from food and release it into our bloodstreams when we need it as processed sugar enzymes called glycogen. However, in the seven forms of GSD, the liver fails to break down glycogen into glucose, causing the body’s blood sugar levels to drop dangerously low, which can lead to seizure or death. Patients stay alive by consuming a cornstarch mixture every few hours to keep their blood sugar up.

The gene therapy undergoing the Phase 1/2 clinical trial, approved by the FDA in April, delivers a new copy of the gene to the patient’s liver to replace deficient sugar enzymes and jumpstart the body’s glucose control. Studies in animal models have already shown the promising gene therapy to be safe, effective, and long-lasting.

The clinical trial is in conjunction with the biopharmaceutical company Ultragenyx and will soon expand from UConn Health in the U.S. to other sites including Canada, Spain, and the Netherlands.

“This gene therapy is hope for all us GSD patients,” says Jerrod, who asked that his last name be withheld. “We are all extremely excited. Dr. Weinstein is a savior and so is the entire GSD program.”

Weinstein moved his GSD program — the largest in the world — to Connecticut Children’s and UConn Health in early 2017. His multidisciplinary team cares for 600 patients from 48 countries.

“The strong synergies and collaborative team science happening at UConn and Connecticut Children’s are world class and the most fertile ground to make a GSD cure reality,” says Weinstein.

 

Writing the Rulebook

Dr. Emily Germain-Lee, a professor of pediatrics and chief of pediatric endocrinology and diabetes, moved her first-of-its-kind Albright Center from Johns Hopkins School of Medicine and Kennedy Krieger Institute to UConn and Connecticut Children’s in October 2016. She has cared for more patients who have a specific rare set of endocrine diseases than any other doctor in the world.

“She has redefined the field of pediatric endocrinology,” Salazar said when the hire was announced. “Patients and families travel from all over the world seeking Dr. Germain-Lee’s care.”

Germain-Lee’s patients suffer from pseudohypoparathyroidism and its related disorders, including Albright hereditary osteodystrophy (AHO), a rare inherited bone disorder caused by a genetic mutation that often leads to short bones and short stature. It is also frequently accompanied by severe multihormonal dysfunction in the body.

This summer, Germain-Lee co-authored the first international guidelines to help doctors around the globe diagnose and manage patients with the diseases. The new guidelines call for human growth hormone treatment for the vast majority of the patients who are at risk for short stature due to growth hormone deficiency. Germain-Lee was the first to discover that part of the reason why AHO patients are short is that two-thirds of them have a growth hormone deficiency.

Her long-term global clinical trial studies have shown the promising benefits of growth hormone treatment, including its ability to drastically increase a patient’s short stature to their original destined height potential while also improving their lipid levels and reducing obesity. With her research in the final stages, Germain-Lee is working toward gaining FDA approval of the therapy, which would be the first new therapy for the disorder in 70 years.

“I am thrilled to be a part of the combined power of UConn School of Medicine and Connecticut Children’s Medical Center for advancing children’s health and discovering new treatments of disease through research,” says Germain-Lee.

Curators Versus Cancer

By Kim Krieger | Illustrations by Kailey Whitman

illustration of scientist look over hundreds of books

A special team of medical literature experts are on the hunt for cancer’s kryptonite, one mutation at a time.


If the genetic code is like a book, then a mutation is like a typo. Some typos are meaningless. Others have such dramatic consequences for a book, or a life, that the error alone could have an entire novel written about it.

Cancer mutations are like that. As oncology moves toward precision medicine — the idea that if we knew exactly which genetic mutations make a particular cancer tick, we could pick exactly the right treatments — oncologists have to keep up with an ever-expanding library of mutations and the drugs that might foil them. The number of cancer research papers published increases every year; there were about 35,000 published in 2015 just in the U.S. It’s far more than any one person can keep up with.

In the same way that a university has research librarians who keep up with the literature in specific fields, JAX has experts who keep up with cancer gene and drug research, even studies that are ongoing and not yet published.

A new collaboration between UConn Health and The Jackson Laboratory (JAX) hopes to help oncologists find the right treatments by keeping up with research for them — and using the institutions’ combined expertise in cancer treatment, molecular biology, and genetics to improve patient outcomes for cancers that currently don’t have good treatments. In the same way that a university has research librarians who keep up with the literature in specific fields, JAX has experts who keep up with cancer gene and drug research, even studies that are ongoing and not yet published. JAX already successfully connects these experts with doctors in the Maine Cancer Genomics Initiative, a philanthropy-funded statewide precision medicine program. UConn Health and JAX hope to expand the concept and demonstrate its feasibility more widely.

A UConn Health researcher holds a tumor sample.

A UConn Health researcher holds a tumor sample. Kristin Wallace

Bull’s Eye Treatment

Imagine that a patient has surgery or a needle biopsy to diagnose a tumor. It’s a particularly ugly tumor, the surgeon, oncologist, and pathologist all agree. Invasive, spreading, and perhaps this isn’t the first time this patient has had to come in for cancer surgery. The tumor is sampled and sent for genetic testing. In about two weeks, the results come back: there are three genetic variants in the tumor that might be drug targets.

At UConn Health, oncologists can send portions of particularly malignant tumors to a team at the JAX Clinical Laboratory. JAX sends back a report with information the oncologist can use to pick a drug regimen with the best chance to shrink that ugly tumor. “The goal is to define the optimal treatment regimen for each individual patient” who may not have good options otherwise, says Dr. Ketan R. Bulsara, chief of neurosurgery at UConn Health and one of the principal investigators on the project.

At UConn Health, oncologists can send portions of particularly malignant tumors to a team at the JAX Clinical Laboratory. JAX sends back a report with information the oncologist can use to pick a drug regimen with the best chance to shrink that ugly tumor.

The report is intended to be a standalone reference an oncologist can use to inform a treatment plan. But if the oncologist is unfamiliar with one of the mutations identified in the report or just wants more information, they can request that a genomic tumor board be convened. The board is composed of surgeons, pathologists, and molecular oncologists who act as external advisors, sharing their opinions with the oncologist. In just 15 minutes, the oncologist can get a wealth of expert opinion to combine with their own expertise and judgment. In the end, the oncologist and patient decide on the best treatment, based on all the available information.

“In a multidisciplinary fashion, doctors and scientists work hand in hand in this with one common goal: identify the best treatment regimen for that particular patient’s pathology,” Bulsara says.
The focus is always on the patient. But behind the scenes, there’s an entire team of researchers whose work goes into the genetic tumor report. Scientists at JAX Clinical Laboratory sequence the tumor’s genetic code and report information on more than 200 cancer-related genes. The genes were picked because they are associated with both malignancy and potential drug treatments. Any mutations or variants in these genes might be a clue to the cancer’s weakness. Or a red herring.

“A typical tumor might have 2,000 mutations. Not all of them really matter,” says Andrey Antov, the program director for the Maine Cancer Genome Initiative at JAX. Finding the key mutations that matter, the two or ten or twenty that could possibly inform treatment and a better outcome for the patient, is the job of the clinical genomic curators.

Personal Librarians

The clinical genomic curators are specialists in fields such as molecular oncology and oncological pharmacology. They’re dedicated to keeping up with the literature on cancer genes and the drugs that target them. More and more of these drug-gene connections are being discovered every day. It’s exciting, but the sheer volume of papers can be overwhelming. Navigating that ocean of scientific papers is the medical curators’ full-time job. They’re like librarians curating a Boston Public Library–size collection of genes and drugs with no cross references in the card catalog and only an imperfect search function. The hope is that just as a good librarian’s knowledge of the subject matter can unearth texts a researcher would never otherwise find, a medical curator’s grasp of oncological genetics and pharmacology can identify potential treatments that would otherwise remain obscure.

Each mutation identified by the genetic panel might require 10 to 20 scientific publications to understand. Once the curators have a handle on the variants’ significance, the clinical laboratory decides which two or three should be described in the report to the oncologist.

illustration of books in a library cart

Sifting the information down to something relevant and digestible is the ultimate goal.

“Today, all this information is disorganized and may not all be in the oncologist’s head. We’re trying to bring it together,” says Jens Rueter, medical director for the Maine Cancer Genome Initiative.

The ideal outcome of a tumor genetic analysis would be to identify a mutation such as the HER2 gene that is turned on in the most aggressive breast cancers. HER2 is responsible for the cancer’s malignancy. But it’s also the cancer’s Achilles’ heel. Once drugs were developed to block the HER2 protein, survival rates climbed sharply.

The goal of the Maine Cancer Genomics Initiative is to enable oncologists to identify other drug-gene connections as potent as the ones found for HER2. Although more and more of these drug-gene connections are being discovered, it remains difficult to provide a patient with access to these drugs. Many of them are only available if a patient participates in a clinical trial. And often, there are barriers to accessing clinical trials, and getting drugs off-label is the only way to get patients to treatments. That’s another benefit that Antov, Bulsara, and Rueter hope UConn Health’s collaboration with JAX will bring.

Positive Outcomes

Ultimately, the researchers hope to demonstrate that this approach leads to better outcomes for patients. During the past year more than 350 patients and 70 oncology practitioners (more than 80 percent of the Maine oncology community) enrolled in the Maine Cancer Genomics Initiative study protocol. A few patients have already been offered a targeted treatment through a trial or a compassionate drug access program as a result of enrollment in the program. And Maine health care professionals have logged more than 1,200 certified education hours through 35 genomic tumor boards, online modules, and annual forums held by JAX.

So far, five patients have done this at UConn Health within the last two months. Generous donors have given enough to fund 20 more.

The hope is that just as a good librarian’s knowledge of the subject matter can unearth texts a researcher would never otherwise find, a medical curator’s grasp of oncological genetics and pharmacology can identify potential treatments that would otherwise remain obscure.

“We hope to get funding for at least 100 patients to show the feasibility of this approach,” Bulsara says. “We want to show we can do this reliably, and that it reliably improves patient care.”

UConn Health already has the infrastructure to do this, in particular a biorepository for tumors set up by Neag Cancer Center Director Dr. Pramod Srivastava and pathologist Dr. Melinda Sanders. With that foundation and support from UConn medical school Dean Dr. Bruce Liang and UConn Health CEO Dr. Andrew Agwunobi, the program was piloted in the Department of Surgery by Bulsara, its chief of neurosurgery, with support from Department of Surgery Chairman Dr. David McFadden, hematology and oncology chief Dr. Susan Tannenbaum, anatomical pathology chief Dr. Qian Wu, and JAX Clinical Laboratory Director Honey Reddi.

If the UConn Health–JAX initiative does prove its feasibility, the approach will continue to spread and become a standard of care.

More oncologists could have access to the library of knowledge and advice of a genetic tumor board, and more cancer patients could benefit from longer, healthier lives.

Tumor samples are housed in UConn Health's research biorepository.

Tumor samples are housed in UConn Health’s research biorepository. Kristin Wallace