Dr. Caruana studies the effects of genomic newborn screening and carrier screening for genetic conditions. He investigates how parents and couples understand and react to these screenings, which test for over 600 serious genetic disorders in newborns and help prospective parents assess genetic risks before pregnancy. His research emphasizes the importance of providing clear, accessible information and support to families, ensuring they can make well-informed choices about their health and their children’s wellbeing.
Key findings
In the BabyScreen+ study, 1.6% of 1,000 newborns screened had important genetic findings, supporting early diagnoses and treatment options.
Out of 27 parents interviewed in the BabyScreen+ study, those receiving low chance results felt relieved, while those with high chances valued the information despite initial shock.
In a nationwide genetic screening program, 90.7% of over 10,000 couples completed screening, with 1.9% found at higher risk of having a child with a genetic condition.
Frequently asked questions
Does Dr. Caruana study newborn genetic conditions?
Yes, Dr. Caruana focuses on genomic newborn screening, which tests infants for over 600 serious genetic conditions.
What is the BabyScreen+ study?
The BabyScreen+ study examines the effectiveness and parental reactions to genomic newborn screening, helping to improve early diagnosis and treatments for newborns.
How does genetic screening help couples planning for children?
Genetic screening provides couples with critical information about their risk of having a child with serious genetic conditions, enabling them to make informed reproductive choices.
Publications in plain English
Of comets and cosmology in Antonino Saliba'sof 1582.
2026
Annals of science
Caruana J
Plain English This study examined a map created in 1582 by Antonino Saliba, a cartographer from Gozo, which depicts various astronomical phenomena, particularly comets. The researchers translated Saliba's text into English and analyzed how his ideas were influenced by earlier thinkers like Aristotle and Ptolemy, revealing that his map was both traditional and heavily based on existing knowledge. This matters because it helps us understand how scientific ideas spread and evolve over time, particularly in the context of 16th-century Europe.
Who this helps: This aids historians, educators, and anyone interested in the history of science and astronomy.
Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study.
2026
NPJ genomic medicine
Downie L, Caruana J, Kugenthiran N, Kanga-Parabia A, Tutty E +7 more
Plain English The BabyScreen+ study examined a digital tool called Genetics Adviser, which provides information and support for genomic newborn screening. In this study with over 1,000 participants, 96% found the tool user-friendly, and 85% spent less than 20 minutes online using it. The results showed that most participants understood the information well, with over 80% answering a majority of knowledge questions correctly, highlighting the effectiveness of digital platforms in educating parents about newborn screening.
Who this helps: This benefits new parents and healthcare providers involved in newborn screening.
Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study.
2026
European journal of human genetics : EJHG
Tutty E, Kanga-Parabia A, Kugenthiran N, Caruana J, Downie L +7 more
Plain English The study looked at how parents felt after getting results from genomic newborn screening (gNBS), which tests newborns for over 600 serious genetic conditions. Out of 27 parents interviewed, those who received low chance results felt relieved and empowered, while those with high chance results experienced shock but valued the information for its potential to guide treatment, especially for serious conditions like those needing a transplant. Overall, the research shows that gNBS can provide important health insights for families without causing undue stress.
Who this helps: This helps parents of newborns by giving them crucial health information about their baby's genetic risks.
Genomic Screening Consortium for Australian Newborns (GenSCAN).
2025
Journal of paediatrics and child health
Taylor N, Pirreca M, Bennetts B, Ho G, Boggs K +14 more
Plain English The research discussed the Genomic Screening Consortium for Australian Newborns (GenSCAN), which studies the use of genomic sequencing to improve the early detection of rare diseases in newborns. The initiative includes six key studies focused on how to implement this technology effectively, addressing challenges like consent and data management. This matters because early detection through genomic screening could lead to better treatment outcomes for affected individuals, potentially transforming newborn healthcare.
Who this helps: This helps newborns and their families by providing early and accurate diagnoses of rare diseases.
Revising the reproductive story: psychosocial and reproductive impacts 12 months after reproductive genetic carrier screening.
2025
European journal of human genetics : EJHG
Tutty E, McClaren BJ, Lewis S, Barlow-Stewart K, Boughtwood T +7 more
Plain English This study looked at the effects of genetic testing for reproductive health on couples in Australia, focusing on what happens 12 months after they receive their results. Out of nearly 10,000 couples, about 4,948 responded a year later, and most felt confident in their reproductive choices, though those who received results indicating a higher risk of genetic issues reported increased anxiety levels. The findings highlight the importance of ongoing support for couples navigating their reproductive plans, especially after receiving troubling genetic information.
Who this helps: This helps patients and their families as well as healthcare providers involved in reproductive health.
Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study.
2025
Nature medicine
Lunke S, Downie L, Caruana J, Kugenthiran N, De Fazio P +31 more
Plain English The BabyScreen+ study looked at using advanced genetic testing on newborns in Victoria, Australia, to identify serious health conditions. Out of 1,000 newborns screened, 16 infants (1.6%) had important genetic findings, with only one detected by traditional tests. This method not only helps in diagnosing conditions early but also supports treatment decisions, and more than 99% of parents liked the idea of offering genetic screening to all newborns.
Who this helps: This helps parents and their newborns by providing early detection of treatable conditions.
Gene selection for genomic newborn screening: Moving toward consensus?
2024
Genetics in medicine : official journal of the American College of Medical Genetics
Downie L, Bouffler SE, Amor DJ, Christodoulou J, Yeung A +7 more
Plain English This study focused on creating a unified list of genes for newborn screening, which tests babies for certain genetic disorders that are treatable and can develop before age five. Out of 1,279 genes examined, 604 were included based on strict criteria, resulting in a consensus of 55 genes that all six researched projects agreed upon. This is important because having a standardized gene list can improve the reliability and consistency of newborn screening programs around the world, ensuring that more infants receive timely and effective treatment.
Who this helps: This benefits newborns and their families by improving early detection and treatment of genetic disorders.
Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol.
2024
BMJ open
Lunke S, Bouffler SE, Downie L, Caruana J, Amor DJ +23 more
Plain English This study looked at expanding newborn screening programs to include advanced genomic testing for over 600 severe but treatable childhood conditions by piloting the BabyScreen+ program in Victoria, Australia. Researchers will screen 1,000 newborns, using a blood sample to conduct whole genome sequencing to identify genetic disorders early on. This is important because it can increase the chance of timely treatment and improve health outcomes for affected children.
Who this helps: This helps newborns and their families by identifying health issues early on.
Kirk EP, Delatycki MB, Archibald AD, Tutty E, Caruana J +78 more
Plain English This study examined a nationwide program in Australia that offers genetic screening for couples before or early in pregnancy. Out of over 10,000 couples, 90.7% completed the screening, and 1.9% were found to have a higher risk of having a child with a genetic condition, mainly autosomal recessive disorders. Most couples who received concerning results sought ways to prevent having an affected child, showing that the screening is useful for helping couples make informed reproductive choices.
Who this helps: This helps prospective parents by providing crucial information about genetic risks, allowing them to make better decisions regarding family planning.
Navigating through the haemostatic paradox in kidney failure: A practical overview.
2023
British journal of haematology
Caruana J, Riva N, Vella K, Davenport A, Gatt A
Plain English This study focused on patients with chronic kidney disease (CKD), which affects about 9.1% of people worldwide. It found that individuals with CKD face a tricky situation because they can easily experience both bleeding and blood clots, making their treatment complicated. The review highlights the need for better understanding and management of these risks in patients with advanced kidney failure.
Who this helps: This information benefits patients with kidney disease and their healthcare providers.
Plain English This study looked at how well fresh air is introduced into hyperbaric chambers, which are special sealed environments used for medical treatments. Researchers found that the air quality can vary greatly inside the chamber, with some areas having higher levels of harmful contaminants than expected. This is important because it shows that the standard calculations for necessary air flow might not keep patients safe in every situation.
Who this helps: Patients receiving treatment in hyperbaric chambers.
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.
2022
Journal of personalized medicine
Archibald AD, McClaren BJ, Caruana J, Tutty E, King EA +41 more
Plain English This study focused on creating a new, free genetic screening program in Australia called Mackenzie’s Mission, which aims to help couples understand their risks of having children with serious genetic conditions. In the first phase, the program mapped out what was needed for its rollout, and in the second phase, couples can be tested for over 1,200 genes linked to more than 750 serious genetic conditions, with support provided if risks are found. This is important because it gives couples valuable information to make decisions about their reproductive health, potentially preventing childhood-onset diseases.
Who this helps: This helps future parents who want to know more about genetic risks before having children.
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").
2021
European journal of human genetics : EJHG
Kirk EP, Ong R, Boggs K, Hardy T, Righetti S +22 more
Plain English The study focused on creating a list of genes to be used in a large genetic screening project called "Mackenzie's Mission," which will test 10,000 couples. They identified 1,300 genes linked to serious genetic conditions that often appear in childhood and can significantly affect a child's health. This is important because it helps couples understand their risks of having a child with such conditions and consider options to prevent this.
Who this helps: This benefits couples planning to have children who may carry genetic disorders.
Woodland strawberry axillary bud fate is dictated by a crosstalk of environmental and endogenous factors.
2021
Plant physiology
Andrés J, Caruana J, Liang J, Samad S, Monfort A +3 more
Plain English Researchers studied how environmental conditions and internal plant factors influence the development of axillary buds in woodland strawberries. They found that the fate of these buds can vary depending on their location on the plant and external factors; for example, a specific gene, FvGA20ox4, is crucial for the buds to turn into cloning runners called stolons, especially under certain temperature conditions. This research is important because understanding how to manipulate bud development can potentially increase strawberry yields and improve cultivation methods.
Who this helps: This helps strawberry farmers and growers improve their crop production.
Synergies of THESEUS with the large facilities of the 2030s and guest observer opportunities.
2021
Experimental astronomy
Rosati P, Basa S, Blain AW, Bozzo E, Branchesi M +35 more
Plain English The THESEUS mission aims to enhance our ability to observe high-energy events in space, focusing on gamma-ray bursts to explore the early universe and the first stars. It will work alongside other advanced facilities in the 2030s to improve our understanding of gravitational waves and cosmic neutrinos, creating new research possibilities in astrophysics. This coordination will significantly strengthen scientific discoveries in these fields.
Who this helps: This helps researchers in astrophysics and cosmology.
A photometric mapping of the night sky brightness of the Maltese islands.
2020
Journal of environmental management
Caruana J, Vella R, Spiteri D, Nolle M, Fenech S +1 more
Plain English This study looked at how bright the night sky is over the Maltese Islands due to artificial lighting. It found that 87% of the area has a brightness level that indicates high light pollution, making it difficult to see stars, with the Milky Way visible in only 12.8% of the area. Understanding this light pollution matters because it affects everything from stargazing to wildlife and human health.
Who this helps: This benefits residents, astronomers, and environmentalists.
TheRegulates Dark-Induced Senescence and Plays Contrasting Roles in Defense Against Bacterial and Fungal Pathogens.
2020
Molecular plant-microbe interactions : MPMI
Dhar N, Caruana J, Erdem I, Subbarao KV, Klosterman SJ +1 more
Plain English This research studied a gene called SAG13 in plants and found that it plays different roles in how plants respond to bacterial and fungal infections. Specifically, the gene helps plants defend against these pathogens while also being important for processes like seed germination and growth. The findings highlight that understanding SAG13 can improve crop resilience and health, which is crucial for agriculture.
Who this helps: This helps farmers and agricultural scientists working to improve crop yields and disease resistance.
An Arabidopsis DISEASE RELATED NONSPECIFIC LIPID TRANSFER PROTEIN 1 is required for resistance against various phytopathogens and tolerance to salt stress.
2020
Gene
Dhar N, Caruana J, Erdem I, Raina R
Plain English This study looked at a specific protein in plants called DRN1, which plays a role in defending against bacteria and fungi and helps plants grow when salt levels are high. Researchers found that when plants face these threats, the DRN1 protein decreases, while a nearby microRNA increases. This is important because understanding how DRN1 works can lead to better crop resilience against diseases and environmental stress.
Who this helps: This helps farmers and agricultural scientists improve crop health and yield.
Allelic Variation ofIs the Major Force Controlling Natural Variation in Skin and Flesh Color in Strawberry (spp.) Fruit.
2020
The Plant cell
Castillejo C, Waurich V, Wagner H, Ramos R, Oiza N +20 more
Plain English This study looked at how different genes affect the color of strawberry fruits. Researchers found that specific mutations in certain genes lead to variations in the amount of color pigment called anthocyanin, which affects both skin and flesh colors in strawberries. In particular, they identified a genetic change that causes white-fleshed strawberries to have less of this pigment, while mutations in other genes were linked to red-fleshed strawberries showing more color.
Who this helps: This research benefits strawberry breeders and farmers by helping them create strawberries with desired colors for better market appeal.
Increasing prevalence of vestibulo-cochlear decompression illness in Malta - an analysis of hyperbaric treatment data from 1987-2017.
2019
Diving and hyperbaric medicine
Azzopardi CP, Caruana J, Matity L, Muscat S, Meintjes WAJ
Plain English This study looked at cases of decompression illness (DCI) treated in Malta from 1987 to 2017, focusing on divers who needed hyperbaric oxygen therapy. Out of 437 cases, the number of divers with vestibulo-cochlear DCI—problems related to balance and hearing—has been increasing, while cases related to muscular and skeletal issues have been decreasing. This change may reflect new diving practices, highlighting the need for better safety protocols in diving to protect divers' health.
Who this helps: This benefits divers and diving professionals by informing them about potential health risks.
Decreases in neprilysin and vasoconstrictors and increases in vasodilators following bariatric surgery.
2018
Diabetes, obesity & metabolism
Ghanim H, Monte S, Caruana J, Green K, Abuaysheh S +1 more
Plain English This study looked at what happens to certain hormones in the body after patients who are severely obese undergo Roux-en-Y gastric bypass surgery. Researchers found that six months after the surgery, levels of substances that narrow blood vessels (like neprilysin and angiotensin II) decreased significantly, while a substance that helps widen blood vessels (ANP) increased by 24%. These changes are important because they may help lower the risk of heart failure and high blood pressure in patients after surgery.
Who this helps: This helps patients who are obese and have diabetes, as well as doctors treating these conditions.
JMJ27, an Arabidopsis H3K9 histone demethylase, modulates defense against Pseudomonas syringae and flowering time.
2017
The Plant journal : for cell and molecular biology
Dutta A, Choudhary P, Caruana J, Raina R
Plain English This study focused on a protein called JMJ27 in the plant Arabidopsis and how it affects the plant's defense against a specific pathogen, Pseudomonas syringae, as well as its flowering time. The researchers found that JMJ27 helps the plant fight off the pathogen and also influences when the plant blooms; without JMJ27, the plants flower earlier than normal. This is important because understanding how plants defend themselves and regulate growth can help improve agricultural practices and plant resilience.
Who this helps: This benefits farmers and agricultural scientists.
An eFP browser for visualizing strawberry fruit and flower transcriptomes.
2017
Horticulture research
Hawkins C, Caruana J, Li J, Zawora C, Darwish O +3 more
Plain English This study focused on wild strawberries, which are important for understanding cultivated strawberries. Researchers created a tool that visually shows gene activity in strawberries at various stages of growth, analyzing data from 42 different tissues, including flowers and fruits. They found specific gene differences in yellow and red strawberries that can help improve fruit quality.
Who this helps: This helps researchers and fruit growers understand and enhance strawberry development and quality.
The mental health services for detained asylum seekers in Malta.
2016
BJPsych international
Taylor-East R, Rossi A, Caruana J, Grech A
Plain English This study looked at how the detention of asylum seekers in Malta affects their mental health and examined the mental health services available to them. Over the last decade, around 17,000 people have sought asylum in Malta, but the mandatory detention policy seems to harm their mental well-being. The researchers identified gaps in mental health services and suggested improvements to better support these individuals.
Who this helps: This benefits asylum seekers in Malta who need better mental health support.
Genome-scale DNA variant analysis and functional validation of a SNP underlying yellow fruit color in wild strawberry.
2016
Scientific reports
Hawkins C, Caruana J, Schiksnis E, Liu Z
Plain English This study looked at the DNA of three types of wild strawberries to understand what causes some to have yellow fruit. Researchers found that two of the strawberry types, 'Rügen' and 'Yellow Wonder', share more genetic similarities, and identified a specific genetic change, called a SNP in the FveMYB10 gene, that results in the yellow color of the fruit. This discovery is important because it helps link specific genetic traits to their visible characteristics, which can improve strawberry breeding.
Who this helps: This helps strawberry breeders and farmers looking to develop better varieties of strawberries.
Grassland root communities: species distributions and how they are linked to aboveground abundance.
2010
Ecology
Frank DA, Pontes AW, Maine EM, Caruana J, Raina R +2 more
Plain English This study looked at the underground root systems of different plant species in grasslands at Yellowstone National Park to see how they relate to the visible parts of the plants above ground. Researchers found an average of 3.9 species per small soil sample at dry grasslands and 2.8 at wetter grasslands, while the number of species in a larger area above ground was much higher, with 6.7 species at dry sites and 14.1 at wet sites. This matters because it shows that although many species coexist, their roots don't necessarily occupy different soil areas, which might not help them share resources better.
Who this helps: This helps ecologists and land managers who study plant diversity and ecosystem health.
The importance of a thick cement mantle depends on stem geometry and stem-cement interfacial bonding.
2009
Proceedings of the Institution of Mechanical Engineers. Part H, Journal of engineering in medicine
Caruana J, Janssen D, Verdonschot N, Blunn GW
Plain English This study looked at how the thickness of the cement layer around hip replacement implants affects damage that occurs over time. It found that a thicker cement layer significantly reduces cracking when the cement is well-bonded to the implant. Specifically, the damage levels were three to six times higher when the cement and implant remained bonded, underscoring the importance of both the thickness of the cement and the type of collar used on the implant.
Who this helps: This benefits patients undergoing hip replacement surgery by improving implant longevity.
Anterior or posterior: does the surgical approach to the hip influence the quality of the femoral cement mantle?
2006
Hip international : the journal of clinical and experimental research on hip pathology and therapy
Sanghrajka AP, Whittingham-Jones P, Higgs D, Caruana J, Blunn G +1 more
Plain English This study looked at how the surgical method used for hip replacement impacts the quality of the cement used to attach the implant. Researchers examined images from 100 surgeries—50 with the anterior (front) approach and 50 with the posterior (back) approach. They found that the anterior approach had more issues, with a higher frequency of defects in the cement's thickness, which can lead to complications later on.
Who this helps: This information benefits surgeons and their patients undergoing hip replacement surgeries.
Preoperative fasting improves survival after 90% hepatectomy.
1994
Archives of surgery (Chicago, Ill. : 1960)
Sarac TP, Sax HC, Doerr R, Yuksel U, Pulli R +1 more
Plain English This study looked at how fasting before surgery affects survival and recovery in rats undergoing a major liver surgery where 90% of the liver is removed. The researchers found that rats that fasted for 24 hours before surgery and then received glucose afterward had a survival rate of 95%, compared to just 52% for rats that had been allowed to eat before surgery. This matters because it shows that fasting may enhance the liver's ability to recover and reduce the risk of failure after significant surgery.
Who this helps: This helps patients undergoing major liver surgery.
Multiple systems organ failure: III Contrasts in plasma amino acid profiles in septic trauma patients who subsequently survive and do not survive-effects of intravenous amino acids.
1981
The Journal of trauma
Moyer ED, McMenamy RH, Cerra FB, Reed RA, Yu L +3 more
Plain English This study looked at the levels of amino acids in the blood of patients with severe infections after trauma, comparing those who survived to those who did not. It found that when amino acids were infused, nonsurviving patients had higher levels of 11 out of 20 measured amino acids, while some essential amino acids were lower in these patients. This matters because understanding these differences can help doctors improve treatment for critically ill patients and could lead to better survival rates.
Who this helps: This helps doctors treating critically ill trauma patients.
Multiple systems organ failure: IV. Imbalances in plasma amino acids associated with exogenous albumin in the trauma-septic patient.
1981
The Journal of trauma
Moyer ED, Border JR, Cerra FB, Caruana J, Chenier R +1 more
Plain English This study looked at how trauma patients with severe infections (septic) reacted to receiving albumin infusions, a treatment given to improve protein levels in the blood. Researchers found that while patients who survived did not show any significant change in certain amino acids after receiving albumin, those who did not survive had higher levels of specific amino acids when infused with albumin, indicating a different metabolic response. This difference in amino acid balance may contribute to poorer outcomes for nonsurvivors and highlights the importance of providing both albumin and amino acids for treating patients effectively.
Who this helps: This helps healthcare providers understand how to better treat trauma patients with infections.
Multiple systems organ failure: V. Alterations in the plasma protein profile in septic trauma - effects of intravenous amino acids.
1981
The Journal of trauma
Moyer ED, Border JR, McMenamy RH, Caruana J, Chenier R +1 more
Plain English This study looked at how certain proteins in the blood changed in trauma patients with infections, focusing on 25 patients, 14 of whom survived. Researchers found that survivors had better protein profiles linked to nutritional support and the amount of amino acids given through an IV, with significant changes in proteins like prealbumin and transferrin. This research highlights how proper nutritional support can help improve survival rates in critically ill patients.
Who this helps: This helps patients recovering from severe trauma and their healthcare providers.
High cancer mortality rates from childhood leukemia and young adult Hodgkin's disease and lymphoma in the New Jersey-New York-Philadelphia Metropolitan Corridor, 1950 to 1969.
1980
Cancer research
Greenberg MR, Caruana J, Holcomb B, Greenberg G, Parker R +2 more
Plain English This study looked at cancer death rates in the New Jersey-New York-Philadelphia area between 1950 and 1969. It found that rates were much higher for childhood leukemia and young adult Hodgkin's disease and lymphoma compared to the national averages. This is important because understanding these local cancer trends can help in addressing potential causes and improving treatment and prevention efforts.
Who this helps: This research benefits cancer patients, healthcare providers, and public health officials.