Drs. Sarah Haskell (Critical Care) and Dianne Atkins (Cardiology, emeritus) were part of an author group on a recent scientific statement from the American Heart Association (AHA). Congratulations to both!
Topjian AA, de Caen A, Wainwright MS, Abella BS, Abend NS, Atkins DL, Bembea MM, Fink EL, Guerguerian AM, Haskell SE, Kilgannon JH, Lasa JJ, Hazinski MF; American Heart Association Emergency Cardiovascular Care Science Subcommittee; American Heart Association Emergency Cardiovascular Care Pediatric Emphasis Group; Council on Cardiopulmonary, Critical Care, Perioperative and Resuscitation; Council on Cardiovascular and Stroke Nursing; Council on Clinical Cardiology; Council on Genomic and Precision Medicine; and Stroke Council. Pediatric Post-Cardiac Arrest Care: A Scientific Statement From the American Heart Association. Circulation 2019 June 27. Doi:10.1161/CIR.0000000000000697
Dr. Davis is Assistant Professor in the Division of Infectious Diseases.
I work in the Pediatric Infectious Disease division. I have been here since July of 2018.
I have my dream job. I spend the majority of my time in the lab, studying infection and inflammation using zebrafish. I also see patients as an ID consultant. Clinical work can be hard but it is also very energizing and inspirational for research.
Most fascinating place I’ve ever visited? Ape Cave is a lava tube near Mt. St. Helens. It has very interesting rock formations. No apes though.
My favorite book or movie is constantly changing. Right now Godard’s “A Band a Part” is my favorite movie, after a recent obsession with “Topsy Turvy”. Favorite books have included Moby Dick and Vineland, among others.
Fun fact: Once there was an action figure made of me. Just one.
Dr. Norris is Professor of Pediatrics and Biochemistry, and is currently the Interim Division Director for the Division of Endocrinology and Diabetes.
I am proud to be in the Division of Endocrinology and Diabetes. I was a Pediatric Resident here 1997-2000, then did endocrine fellowship in Boston, and then returned as faculty in 2005.
My wife, Cecilia, is a family physician and is the medical director of the Iowa City Free Medical clinic. We have three children and three dogs. Our oldest two children have left the nest and live in Utah and Iowa City, but visit home to see the dogs. Our youngest child seems to be endeavoring to keep the Sports Medicine clinic busy via various high school soccer injuries.
I love conducting biomedical research; this is the largest consumer of my free time. My hobbies are fly fishing, biking, guitar, backpacking, and an annual trip to Colorado to climb “14ers”.
Starting in early elementary school, I began dreaming of being both a scientist and a doctor. I feel so grateful to have had this dream realized. What I have learned though, is that it is more important to have wonderful colleagues. In this regard, I feel so blessed to be surrounded by so many outstanding peers, mentors, trainees, co-workers, and staff (and patients). This is what makes it delightful to come to work each day.
The past two years I have accompanied my wife and children on medical mission trips to the Lake Atitlan region of Guatemala. Several other Peds Department members have also gone. The area is beautiful and its largely Mayan population wonderful to work with.
“Sod and Stubble” is one of my favorite books. It chronicles in exquisitely personal detail the trials and tribulations of a family attempting to homestead in central 19th century Kansas.
Myrl is a Physician Assistant in the Division of Medical Genetics and Genomics.
I work in Medical Genetics and Genomics in the Stead Family Department of Pediatrics. I began at UIHC as a Cardiovascular Research Assistant in 1981 and left in 1985 to attend training at The Military Physician Assistant Course. I returned in January 1988 and cared for patients in Pediatric Bone Marrow Transplant/Hematology Oncology. I became more involved in clinical research in the late 1990s and was a principal investigator on multiple clinical trials for patients primarily with enzyme deficiencies (Lysosomal Storage Disorders-LSDs). A worldwide enzyme shortage prompted the FDA to request researchers to make available alternative therapies and I was tasked with filling the treatment void through the clinical trial process until production was again adequate. Heightened awareness of UIHC as a Lysosomal Storage Disorder Center and a growing patient population prompted my transition to Genetics in 2014. I was then able to focus clinical care and provide increased research opportunities. Since 2003, five LSD medications in which UIHC participated in multi-institutional clinical trials were FDA approved; two were the first oral medications ever available. The Medical Genetics and Genomics Division in SFCH currently has 5 ongoing clinical trials and will soon be opening gene replacement trials. Additionally the division also has multiple rare disease monitoring registries.
I enjoy traveling with my wife Denise, who also works at SFCH as a neonatal nurse practitioner. We have traveled on 6 continents and more than 25 countries. We have two grown children and are new grandparents!
I think my current position has many components of my “dream job”. I enjoy coming to work and the people I work with are great people. I feel valued by my coworkers and my patients, and I have good relationships with them. I have a passion for helping these patients with rare diseases. I have three generations of patients with these inherited disorders and know many of them well. My time at UIHC and in genetics has been satisfying and the program continues to grow with addition of collaborating and supervising physicians and research personnel to administer research trials.
We love Hawkeye football and are 40 year season ticketholders. Denise and I are trying to go to all the BIG Ten stadiums and only have a few remaining.
Fun fact: Denise and I share the same start day at UIHC.
Congratulations to Connie Phommaly, Program Coordinator in General Pediatrics and Adolescent Medicine, for receiving a You Make a Difference Award for providing excellent customer service! From the nomination:
“Our family would like to thank Connie Phommaly in Pediatrics for helping us get a circumcision appointment for our son. It was very frustrating and confusing for us leaving the hospital and being asked to follow up through email to get this done. I sent an email when we got home and she called us the very next day. She didn’t seem sure on how to make the appointment for us and made a comment that she worked in the administration offices but told us she would make sure a Dr at a clinic in North Liberty would do it for us. This was before the July 4th holiday and we had our appointment confirmed about an hour after she called us. She sent us a very nice email and called us again after she confirmed the appointment and sent us directions to the clinic because we were coming from Wellman and didn’t know the North Liberty area. She also talked my wife about setting up an online chart to see the appointment. She did everything for us and we just had to show up. The visit at the clinic was very easy and convenient. We didn’t know that we could do this at regular Dr’s office. Everything was great and Connie made it happen for us during a very busy time and all the things you have to do with a new baby.”
Abstract: Compound heterozygotes occur when different variants at the same locus on both maternal and paternal chromosomes produce a recessive trait. Here we present the tool VarCount for the quantification of variants at the individual level. We used VarCount to characterize compound heterozygous coding variants in patients with epileptic encephalopathy and in the 1000 Genomes Project participants. The Epi4k data contains variants identified by whole exome sequencing in patients with either Lennox-Gastaut Syndrome (LGS) or infantile spasms (IS), as well as their parents. We queried the Epi4k dataset (264 trios) and the phased 1000 Genomes Project data (2504 participants) for recessive variants. To assess enrichment, transcript counts were compared between the Epi4k and 1000 Genomes Project participants using minor allele frequency (MAF) cutoffs of 0.5 and 1.0%, and including all ancestries or only probands of European ancestry. In the Epi4k participants, we found enrichment for rare, compound heterozygous variants in six genes, including three involved in neuronal growth and development – PRTG (p = 0.00086, 1% MAF, combined ancestries), TNC (p = 0.022, 1% MAF, combined ancestries) and MACF1 (p = 0.0245, 0.5% MAF, EU ancestry). Due to the total number of transcripts considered in these analyses, the enrichment detected was not significant after correction for multiple testing and higher powered or prospective studies are necessary to validate the candidacy of these genes. However, PRTG, TNC and MACF1 are potential novel recessive epilepsy genes and our results highlight that compound heterozygous variants should be considered in sporadic epilepsy.
Drs. Dianne McBrien and Deb Lin-Dyken, both from the Division of Developmental and Behavioral Pediatrics, received a couple glowing patient comments recently.
“Dr. McBrien is phenomenal and did the best job I’ve seen of balancing efficiency with listening to us and thoughtfully explaining/asking for our input. The best part was Dr McBrien’s understanding and help with all questions and concerns! By far the best Dr EVER!!!”
“We truly felt listened to and that the best interest for our child was in mind. The evaluations were thorough and we got results/feedback at the end of each appointment (face-to-face). It was really nice to be able to talk to the person who did the evaluation and be able to ask questions right there. We have been very happy with the care.”
Dr. Boes recently received a new R21 grant from the NIH. The grant is titled “Investigating the Effects of Transcranial Magnetic Stimulation with Intracranial EEG in Humans” and provides $228,750/year for 2 years, for a total of $424,875.