April 2025
New Publication - A Heterozygous, Intronic KRT71 Variant Associated with LAHS
A new case report from the El-Shanti Lab links the gene KRT71 to loose anagen hair syndrome (LAHS). An intronic variant identified in two generations of a family was found to cause alternative splicing, investigated via a minigene approach. This work expands the genotypic spectrum of LAHS and suggests that loose anagen hairs may be a phenotypic feature of Woolly Hair Syndrome, broadening considerations in differential diagnosis.
August 2024
The El-Shanti Lab was pleased to host Kya Foxx (University of Pittsburgh) this summer as she participated in research at the undergraduate level. Kya successfully presented her poster "Exploring the binding properties of KRT32/KRT82 to understand disruption of hair shaft anchoring in Loose Anagen Hair Syndrome" at the Summer Undergraduate Research Conference. Congratulations, Kya! We all wish Kya the very best in in her future studies.
April 2024
Stead Family Department of Pediatrics Research Day
The El-Shanti lab presented at the annual Department of Pediatrics Research Day, sharing the results of a family in our Loose Anagen Hair Syndrome cohort. View Poster
February 2024
Dance Marathon
The University of Iowa raises funds to support families being treated by the children's hospital through the annual Dance Marathon. Donate or volunteer today!
Rare Disease Day is February 29th
The last day of February is #RareDiseaseDay, which promotes awareness of rare disorders. Did you know that 1 in 10 Americans have been diagnosed with a rare disorder? Show your stripes on social media, and give a face to rare disorders with the tag #ShowYourStripes.
November 2023
The El-Shanti Lab Goes to Washington
Members of the El-Shanti lab attended the 2023 annual meeting of the American College of Human Genetics (ASHG).
January 2023
Historically, genetic research has been mis-used to dehumanize, perpetuate stereotypes, and support discriminatory legislation which flies in the face of good science and human decency. We must acknowledge this history in order to confront implicit bias in our own work and to learn from these atrocities that they are not repeated in the present.
The American Society of Human Genetics has published a report detailing many past harms and asserts their intention to broaden their inclusivity and be responsible with social implications of the research done in genetic labs, which can be viewed here.
January 2023
Welcome Dr. Mark Schultz, PhD
The Department of Pediatrics and the El-Shanti Lab welcome Dr. Schultz to the University of Iowa. The Schultz Lab studies protein folding related to pediatric kidney disease, focusing Neimann-Pick C Disease. Welcome to Iowa, Dr. Schutlz!
Septmeber 2022
New Publication - Novel TBX3 Variant
A new case report involving genetic work completed in the El-Shanti Lab details a variable pattern of expression of an inherited novel splice-site variant causing Ulnar-mammary Syndrome (UMS) in two generations of a family which expands the genotypic spectrum of UMS.
https://doi.org/10.3390/genes13091649
June 2022
New Publication - Role of singleton whole exome sequencing in countries with limited resources
A study of congenital muscular dystrophy in the setting of limited genetic testing using singleton exome sequencing; co-author, Dr. Hatem El-Shanti.
https://doi.org/10.1016/j.clineuro.2022.107271
November 2021
UIHC Joins NORD
The University of Iowa Health Care has been made a member of the National Organization for Rare Diseases (NORD) Rare Disease Center of Excellence.
October 2021
LAHS is being studied in the El-Shanti Lab
Under the guidance of Dr. El-Shanti research is being conducted with a cohort of children and adults with Loose Anagen Hair syndrome looking for genetic links that help explain the symptoms of LAHS.
May 2021
New Publication - Family Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families.
A family-based association study of autism spectrum disorder in an Arabic population; co-author, Dr. Hatem El-Shanti.
https://doi.org/10.3390/genes12050761
August 2020
New Publication - A Novel Syndrome With Short Stature, Mandibular Hypoplasia, and Osteoporosis May Be Associated With a PRRT3 Variant
A study and description of a new progeroid syndrome in siblings and the identification of the involved gene; co-author, Dr. Hatem El-Shanti.