Polymorphism, Single NucleotideGenetic Predisposition to DiseaseGenotypeCase-Control StudiesPrognosisGenome-Wide Association StudyPilot ProjectsStrokeRecovery of FunctionColorectal NeoplasmsExercise TherapyQuantitative Trait LociStroke RehabilitationNeoplasms, Germ Cell and EmbryonalTesticular Neoplasms
Dr. Broderick studies the underlying genetic components of cancers such as testicular and colorectal cancer, seeking to identify specific genes that contribute to increased risk. His research also delves into innovative rehabilitation techniques for stroke patients, including the use of exercises and sensory devices to enhance movement and recovery. Additionally, he explores new therapies for stuttering that utilize simple techniques to improve speech, making treatment more accessible.
Key findings
In a meta-analysis involving 1,435 cases, no specific genes were linked to testicular germ cell tumors, but strong connections to certain gene groups related to cell structure were found.
A study identified 136 potential colorectal cancer susceptibility genes from over 100,000 individuals, with 238 signals linked to cancer risk.
Using eye movement therapy, a case study demonstrated significant improvements in speech fluency for a stuttering patient over 24 months.
Stroke rehabilitation techniques like cross-education showed a 14% increase in upper arm strength and 8% improvement in upper limb function across 131 participants.
Genetics revealed that individuals predicted to be more physically active have a 44% reduced risk of developing colorectal cancer.
Frequently asked questions
Does Dr. Broderick study cancer?
Yes, Dr. Broderick researches the genetic factors associated with testicular and colorectal cancers.
What rehabilitation techniques has Dr. Broderick researched?
He studies innovative strategies such as cross-education and sensory feedback devices to improve movement and function in stroke patients.
Is Dr. Broderick's work relevant to patients who stutter?
Absolutely, his research includes therapies for stuttering that help patients improve their speech.
What are some significant findings from Dr. Broderick's research?
Notably, he has identified potential cancer susceptibility genes and explored effective rehabilitation methods for stroke patients.
How does physical activity relate to cancer risk in Dr. Broderick's studies?
His work indicates that being more physically active can significantly lower the risk of colorectal cancer by 44%.
Publications in plain English
Meta-analysis of Germline Whole-exome Sequencing in 1435 Cases of Testicular Germ Cell Tumour to Evaluate Disruptive Mutations Under Dominant, Recessive, and X-linked Inheritance Models.
2025
European urology open science
Kuzbari Z, Rowlands CF, Wade I, Garrett A, Loveday C +8 more
Plain English This research examined genetic variations that might increase the risk of testicular germ cell tumors (TGCT), which are the most common cancer in young men. The study analyzed genetic data from 1,435 men with TGCT and 18,284 healthy men and found no specific genes tied to the cancer, but did discover that certain gene groups related to cell structure had a strong link to TGCT. This is important because it highlights the need for larger studies to pinpoint which specific genes might influence the development of testicular cancer.
Who this helps: This research benefits young men at risk for testicular cancer and medical professionals working in oncology.
Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes.
2024
Nature communications
Chen Z, Guo X, Tao R, Huyghe JR, Law PJ +200 more
Plain English This study analyzed genetic data from over 100,000 people to identify genes that might make someone more likely to develop colorectal cancer. Researchers found 238 signals linked to cancer risk and identified 136 potential cancer-related genes, including 56 that had not been reported before. Understanding these genes and their pathways can help improve prevention strategies and treatments for colorectal cancer.
Who this helps: This helps patients and doctors by providing insights that may lead to better cancer screening and treatment options.
What are the effects of pilates in the post stroke population? A systematic literature review & meta-analysis of randomised controlled trials.
2023
Journal of bodywork and movement therapies
Cronin E, Broderick P, Clark H, Monaghan K
Plain English This research examined how pilates exercises affect people recovering from strokes. The review found strong evidence that participating in pilates significantly improves balance, with a value indicating a very high level of effectiveness (P<0.00001). Additionally, there was a positive impact on quality of life and walking ability, albeit to a lesser extent. Understanding these benefits is important as it highlights pilates as a potentially effective therapy for stroke recovery.
Who this helps: This helps stroke survivors looking to improve their balance and overall recovery.
To assess the effects of cross-education on strength and motor function in post stroke rehabilitation: a systematic literature review and meta-analysis.
2023
Physiotherapy
Smyth C, Broderick P, Lynch P, Clark H, Monaghan K
Plain English This research looked at how training one arm can help improve strength and movement in the other arm for people recovering from a stroke. The study reviewed five trials with a total of 131 participants and found that this method, called cross-education, significantly improved upper arm strength by about 14% and upper limb function by about 8%. These findings are important because they suggest a simple way to enhance rehabilitation outcomes for stroke survivors.
Who this helps: This helps stroke survivors and their rehabilitation providers.
Dynamics of inflammatory responses after SARS-CoV-2 infection by vaccination status in the USA: a prospective cohort study.
2023
The Lancet. Microbe
Zhu X, Gebo KA, Abraham AG, Habtehyimer F, Patel EU +43 more
Plain English This study looked at how COVID-19 vaccination affects the levels of inflammatory markers in the blood of people infected with the virus. Researchers found that fully vaccinated individuals had lower levels of certain inflammatory markers compared to unvaccinated people, with about 20% lower levels of key markers like IL-7 and IL-8 after 90 days. This matters because lower inflammation may help explain why vaccinated individuals tend to experience less severe illness and lower death rates from COVID-19.
Who this helps: This helps patients by providing evidence that vaccination can lead to better health outcomes during COVID-19 infection.
Eye movement as a simple, cost-effective tool for people who stutter: A case study.
2023
The South African journal of communication disorders = Die Suid-Afrikaanse tydskrif vir Kommunikasieafwykings
McDonagh HD, Broderick P, Monaghan K
Plain English This study looked at a new therapy for stuttering that uses eye movements to help control speech. An adult man with a stutter participated in a program over 24 months, and he showed improvement in all his assessment scores, confirming that this approach was helpful and had no negative effects. This therapy is important because it’s easy to understand, can be taught online, and makes treatment more accessible to those who need it.
Who this helps: Patients who stutter and their families.
Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries.
2023
Nature genetics
Fernandez-Rozadilla C, Timofeeva M, Chen Z, Law P, Thomas M +205 more
Plain English Researchers studied the genetics of colorectal cancer (CRC) by analyzing data from over 100,000 CRC patients and more than 150,000 healthy individuals of European and East Asian backgrounds. They found 205 genetic factors linked to CRC risk, including 50 new associations, and identified 155 important genes that influence this risk in various ways, such as affecting cell behavior and immune responses. This research helps us understand how CRC develops and points to new ways to prevent and treat the disease.
Who this helps: This benefits patients at risk for colorectal cancer and doctors seeking better treatment options.
Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries.
2023
Nature genetics
Fernandez-Rozadilla C, Timofeeva M, Chen Z, Law P, Thomas M +205 more
Transfusing Convalescent Plasma as Post-Exposure Prophylaxis Against Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Infection: A Double-Blinded, Phase 2 Randomized, Controlled Trial.
2023
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America
Shoham S, Bloch EM, Casadevall A, Hanley D, Lau B +51 more
Plain English This study investigated whether convalescent plasma from people who recovered from COVID-19 could prevent infection in individuals who were recently exposed to the virus. It found that 14.8% of participants receiving convalescent plasma developed a COVID-19 infection, compared to 14.9% in the control group, showing that the plasma did not significantly reduce the risk of infection. These results are important because they indicate that using convalescent plasma as a preventive measure after exposure to COVID-19 may not be effective.
Who this helps: This helps patients who may be considering convalescent plasma as a treatment after exposure to COVID-19.
Adaptive immune responses in vaccinated patients with symptomatic SARS-CoV-2 Alpha infection.
2022
JCI insight
Park HS, Shapiro JR, Sitaras I, Woldemeskel BA, Garliss CC +33 more
Plain English This study looked at how well vaccinated people respond to the SARS-CoV-2 Alpha variant, especially those who still got sick after their vaccinations. Researchers found that fully vaccinated people who experienced breakthrough infections had lower levels of neutralizing antibodies against the virus compared to healthy vaccinated individuals, with the neutralizing antibody levels decreasing over time. Specifically, neutralizing activity against the Alpha variant was lower for both partially and fully vaccinated patients who got infected, which highlights the need for improved vaccination strategies.
Who this helps: This helps patients and public health officials understand the effectiveness of current vaccines against emerging variants.
Sensory substitution for orthopaedic gait rehabilitation: A systematic review and meta-analysis for clinical practice guideline development.
2022
Heliyon
Lynch P, Broderick P, Monaghan K
Plain English This research looked at how using wearable devices that provide sensory feedback can help patients with orthopedic conditions improve their walking. The study found that these devices significantly enhance walking speed, weight control, and overall functionality, while pain levels didn't improve enough to be considered effective. For the best results, it is recommended that patients use these devices for 20 minutes a day, three times a week for five weeks, alongside pain management strategies.
Who this helps: This helps patients recovering from orthopedic issues by improving their mobility and functionality.
Genetically predicted physical activity levels are associated with lower colorectal cancer risk: a Mendelian randomisation study.
2021
British journal of cancer
Zhang X, Theodoratou E, Li X, Farrington SM, Law PJ +10 more
Plain English The study examined whether being physically active can lower the risk of colorectal cancer, using genetic information to guide their analysis. Researchers found that individuals genetically predicted to engage in more moderate-to-vigorous physical activity had a 44% lower risk of developing colorectal cancer compared to those with lower activity levels, independent of body fat. This is important because it highlights the role of physical activity in cancer prevention, regardless of a person's weight.
Who this helps: This helps patients and public health officials who are focused on reducing cancer risks through lifestyle changes.
Randomized controlled trial transfusing convalescent plasma as post-exposure prophylaxis against SARS-CoV-2 infection.
2021
medRxiv : the preprint server for health sciences
Shoham S, Bloch EM, Casadevall A, Hanley D, Lau B +50 more
Plain English This study looked at whether convalescent plasma, which contains antibodies from people who have recovered from COVID-19, could prevent infection in individuals who were recently exposed to the virus but had not yet shown symptoms. The trial involved 180 participants, with 87 receiving the convalescent plasma and 93 receiving standard plasma. The results showed that about 14.8% of those who received convalescent plasma and 14.9% of the control group developed SARS-CoV-2 infections, indicating that the treatment did not effectively prevent infection.
Who this helps: This research is important for doctors and patients exploring options for preventing COVID-19 after exposure.
Genomic landscape of platinum resistant and sensitive testicular cancers.
2020
Nature communications
Loveday C, Litchfield K, Proszek PZ, Cornish AJ, Santo F +20 more
Plain English This study looked at testicular germ cell tumors (TGCTs), specifically comparing those that respond well to platinum chemotherapy and those that do not. Researchers analyzed the genetic makeup of 40 tumors from patients resistant to platinum, and combined this with data from another 624 tumors. They found a possible connection between certain early mutations and the genetic changes that are common in TGCTs, which could help us understand why some tumors resist treatment.
Who this helps: This research helps doctors and researchers working on treatment strategies for patients with testicular cancer.
Plain English This study looked at a 50-year-old woman who had a stroke almost four years earlier and had trouble moving her legs. She participated in a new treatment combining mirror therapy and treadmill training for 30 minutes a day, three times a week, for four weeks, and this led to significant improvements in her leg movement and walking speed, as shown by specific tests. This is important because it shows that combining these two therapies can help people with chronic stroke regain some mobility with a relatively small amount of training.
Who this helps: This benefits patients recovering from chronic strokes who struggle with leg movement and walking.
Mirror therapy and treadmill training for patients with chronic stroke: a pilot randomized controlled trial.
2019
Topics in stroke rehabilitation
Broderick P, Horgan F, Blake C, Ehrensberger M, Simpson D +1 more
Plain English This study looked at whether using mirror therapy along with treadmill training could help people who had a stroke improve their lower-limb function. Thirty patients participated, with one group using mirror therapy while walking on a treadmill, and another group receiving a placebo without the mirror. The results showed that the mirror therapy group had noticeably reduced muscle stiffness in their ankles right after training, suggesting this combination can benefit stroke recovery.
Who this helps: This helps stroke patients seeking to improve their mobility and reduce muscle stiffness.
Author Correction: Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility.
2019
Nature communications
Sud A, Thomsen H, Law PJ, Försti A, da Silva Filho MI +31 more
Plain English This paper corrected a mistake regarding the spelling of a contributor's name in a study about classical Hodgkin lymphoma, a type of cancer. The research investigated the genetic factors that may influence someone's risk of developing this disease. Accurate identification of these factors is crucial for improving diagnosis and treatment.
Who this helps: Patients with classical Hodgkin lymphoma.
Author Correction: Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.
2019
Nature communications
Went M, Sud A, Försti A, Halvarsson BM, Weinhold N +65 more
Plain English This paper focused on identifying specific genetic risk factors and biological processes linked to multiple myeloma, a type of blood cancer. The research corrected some mistakes related to author names and their order in a previously published article, ensuring accurate acknowledgment of contributors. These updates help ensure that the scientific community properly credits researchers and their work, which is essential for future studies and collaborations.
Who this helps: This helps researchers and the scientific community.
Author Correction: Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.
2019
Nature communications
Vijayakrishnan J, Studd J, Broderick P, Kinnersley B, Holroyd A +35 more
Plain English This article corrects some mistakes in the author list of a study about how certain genetic factors are linked to B-cell childhood acute lymphoblastic leukemia, a type of cancer. The errors included misspelling an author's name and listing the order of authors incorrectly. These corrections ensure that the contributions of researchers are accurately recognized.
Who this helps: This helps researchers and medical professionals by providing clear and accurate information about the study.
Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
2019
Nature communications
Law PJ, Timofeeva M, Fernandez-Rozadilla C, Broderick P, Studd J +94 more
Plain English This study looked at genetic factors that increase the risk of colorectal cancer (CRC) by analyzing data from nearly 35,000 CRC patients and over 71,000 healthy individuals. Researchers identified 31 new genetic markers associated with CRC risk, in addition to several others previously linked to the disease. This is important because it helps improve our understanding of how genetics contribute to CRC, which could lead to better screening and prevention strategies for those at risk.
Who this helps: This helps patients at risk of colorectal cancer and doctors managing their care.
A genome-wide association study identifies susceptibility loci for primary central nervous system lymphoma at 6p25.3 and 3p22.1: a LOC Network study.
2019
Neuro-oncology
Labreche K, Daniau M, Sud A, Law PJ, Royer-Perron L +24 more
Plain English This study investigated how genetic differences might influence the risk of developing primary central nervous system lymphoma (PCNSL), a rare type of brain cancer. Researchers looked at data from 475 PCNSL patients and 1,134 healthy individuals and found two specific genetic locations linked to increased risk: one at 6p25.3 and another at 3p22.1. Understanding these genetic connections is important because it helps clarify how genetics can play a role in the development of PCNSL, which may lead to better risk assessment and treatment strategies for patients.
Who this helps: Patients at risk for primary central nervous system lymphoma.
Plain English Researchers studied how a short mindfulness program could help adolescent girls at risk for type 2 diabetes. After a year, those who participated in the mindfulness session saw a notable decrease in depression (by about 0.68 points) and insulin resistance (by 0.73 points) compared to those who attended a cognitive-behavioral therapy group. This matters because addressing both mental health and insulin resistance can help prevent the onset of type 2 diabetes in these at-risk teens.
Who this helps: This benefits adolescent girls with overweight or obesity who are at risk for type 2 diabetes, as well as their healthcare providers.
Peak torque, rate of torque development and average torque of isometric ankle and elbow contractions show excellent test-retest reliability.
2019
Hong Kong physiotherapy journal : official publication of the Hong Kong Physiotherapy Association Limited = Wu li chih liao
Simpson D, Ehrensberger M, Nulty C, Regan J, Broderick P +2 more
Plain English This study looked at how strong and quickly muscles can contract in the ankle and elbow when held in a fixed position, specifically using measurements called peak torque, rate of torque development, and average torque. The results showed that these measurements were very reliable, with scores indicating strong agreement across tests (0.98-0.92), meaning they can be consistently reproduced. This is important because it allows researchers and clinicians to use these muscle function tests confidently in various settings.
Who this helps: This benefits patients and doctors by providing reliable muscle function assessments for rehabilitation and treatment decisions.
Unilateral dorsiflexor strengthening with mirror therapy to improve motor function after stroke: A pilot randomized study.
2019
Physiotherapy research international : the journal for researchers and clinicians in physical therapy
Simpson D, Ehrensberger M, Horgan F, Blake C, Roberts D +2 more
Plain English This study looked at a new way to help stroke survivors improve their leg movement by using a technique called mirror therapy along with strength training. Thirty-one stroke patients participated, with half doing regular strength training and the other half doing strength training while watching a mirror reflection of their movements. The group using mirror therapy showed better walking speed but no significant differences in other measures like strength or overall mobility after four weeks. This research is important because it suggests a possible new method for enhancing recovery in stroke patients.
Who this helps: Stroke patients seeking to improve their motor functions.
Loveday C, Sud A, Litchfield K, Levy M, Holroyd A +16 more
Plain English This study looked at whether specific genetic markers, called "runs of homozygosity," are linked to the risk of developing testicular cancer. Researchers analyzed genetic data from over 3,200 men with testicular cancer and more than 7,400 without it. Although they found some interesting areas of the genome that might be related to cancer risk, the overall evidence did not support a strong connection between these genetic factors and testicular cancer.
Who this helps: This research benefits doctors by providing clearer insights into genetic factors in testicular cancer, guiding further studies and patient care.
Unilateral Strength Training and Mirror Therapy in Patients With Chronic Stroke: A Pilot Randomized Trial.
2019
American journal of physical medicine & rehabilitation
Ehrensberger M, Simpson D, Broderick P, Blake C, Horgan F +3 more
Plain English This study looked at whether using a mirror during strength training helps stroke patients recover better in their less-affected arm compared to strength training without a mirror. Researchers found that while both groups trained effectively, using a mirror did not enhance strength gains any more than training alone. This is important because it shows that while mirror therapy is feasible, it may not provide the additional benefits that were hoped for, leading to further investigation into different training methods.
Who this helps: This helps stroke patients looking for effective rehabilitation options.
Identification of four novel associations for B-cell acute lymphoblastic leukaemia risk.
2019
Nature communications
Vijayakrishnan J, Qian M, Studd JB, Yang W, Kinnersley B +21 more
Plain English This study investigated genetic factors that increase the risk of B-cell acute lymphoblastic leukemia (B-ALL) in children by analyzing data from over 5,300 affected individuals and 16,600 healthy controls. Researchers found four new genetic markers that contribute to the risk of this cancer, linked to specific regions of DNA, which may affect how blood cells develop. These findings are important because they help us understand the genetic basis of B-ALL, potentially guiding future prevention and treatment strategies.
Who this helps: This research benefits patients and their families by providing insights that could lead to better risk assessment and management of B-ALL.
Large-scale Sequencing of Testicular Germ Cell Tumour (TGCT) Cases Excludes Major TGCT Predisposition Gene.
2018
European urology
Litchfield K, Loveday C, Levy M, Dudakia D, Rapley E +7 more
Plain English This research focused on testicular germ cell tumors (TGCT), the most common cancer in young men, and aimed to find major genes that might increase the risk for this cancer. The study analyzed genetic data from 919 men with TGCT and 1,609 men without cancer, finding no significant link between specific rare gene mutations and TGCT. This suggests that rather than a single gene causing the disease, many small genetic factors contribute to the risk, much like how common genetic variations affect other conditions.
Who this helps: This research benefits patients by providing a clearer understanding of the genetic factors involved in TGCT, which could help in assessing risk and developing prevention strategies.
Validation of loci at 2q14.2 and 15q21.3 as risk factors for testicular cancer.
2018
Oncotarget
Loveday C, Litchfield K, Levy M, Holroyd A, Broderick P +13 more
Plain English This study looked at genetic factors that increase the risk of testicular cancer, specifically in regions of DNA known as loci. Researchers found that two specific genetic variations (SNPs) at loci 2q14.2 and 15q21.3 are linked to a higher risk of this type of cancer, with one variation showing a very strong association (it had a measurement of 3.03 x 10^-8). Understanding these genetic factors is important because it can help identify who is at higher risk for testicular cancer and inform prevention strategies.
Who this helps: This helps patients and doctors in assessing risk for testicular cancer.
Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.
2018
Nature communications
Vijayakrishnan J, Studd J, Broderick P, Kinnersley B, Holroyd A +35 more
Plain English Researchers studied the genetic factors linked to B-cell childhood acute lymphoblastic leukemia (BCP-ALL) by analyzing data from 2,442 affected children and 14,609 healthy individuals. They discovered two specific genetic locations that increase the risk of this type of leukemia: one at 8q24.21, which raises risk by 34%, and another at 2q22.3, linked to a more serious form of the disease, that raises risk by 114%. These findings help us better understand the genetic causes of BCP-ALL, which can improve diagnosis and treatment strategies.
Who this helps: This helps patients and their families by identifying genetic risk factors for childhood leukemia.
Genome-wide association analysis identifies a meningioma risk locus at 11p15.5.
2018
Neuro-oncology
Claus EB, Cornish AJ, Broderick P, Schildkraut JM, Dobbins SE +18 more
Plain English Researchers studied the genetic factors that might increase the risk of developing meningiomas, which are brain tumors. They analyzed data from nearly 3,000 patients with meningiomas and over 12,000 healthy individuals, discovering a new risk factor at a specific location in our DNA (11p15.5) that increases the likelihood of these tumors by 44%. This is important because it deepens our understanding of how genetics contribute to meningioma development and may lead to better prevention strategies.
Who this helps: This research benefits patients at risk for meningiomas and their doctors.
Mirror therapy for improving lower limb motor function and mobility after stroke: A systematic review and meta-analysis.
2018
Gait & posture
Broderick P, Horgan F, Blake C, Ehrensberger M, Simpson D +1 more
Plain English This study looked at mirror therapy as a way to help people regain movement and improve mobility in their legs after a stroke. Researchers found that mirror therapy significantly improved motor function, balance, walking speed, and ankle movement in stroke patients, with effects measured in standardized terms ranging from a 0.54 increase in motor function to a 1.20 increase in ankle movement flexibility. This is important because it shows that a simple, non-invasive method like mirror therapy could enhance recovery for stroke survivors.
Who this helps: This benefits stroke patients seeking to improve their mobility and independence.
Large-scale Analysis Demonstrates Familial Testicular Cancer to have Polygenic Aetiology.
2018
European urology
Loveday C, Law P, Litchfield K, Levy M, Holroyd A +15 more
Plain English This study examined testicular germ cell tumors (TGCT), which are the most common cancer in young men. The researchers found that familial cases of TGCT are primarily linked to common genetic variations that also increase the risk of sporadic (isolated) cases, with 84-100% of familial cases attributed to these genetic factors. This information is important because it shows that the risk of developing TGCT in families is related to inherited genetics rather than just environmental or lifestyle factors.
Who this helps: This helps patients and families with a history of testicular cancer understand their risks and may assist doctors in managing care.
Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma.
2018
Blood
Sud A, Thomsen H, Orlando G, Försti A, Law PJ +24 more
Plain English Researchers looked into the genetic factors that make people more likely to develop Hodgkin lymphoma (HL) by studying the DNA of over 5,300 HL patients and more than 22,400 healthy individuals. They discovered five new genetic markers linked to HL and found that problems in immune system functioning, particularly with certain immune cells, may contribute to the disease's development. This information helps deepen our understanding of why some people are at greater risk for HL, which could lead to better prevention and treatment strategies.
Who this helps: This helps patients and doctors by providing insights that could improve risk assessment and targeted therapies for Hodgkin lymphoma.
Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.
2018
Nature communications
Went M, Sud A, Försti A, Halvarsson BM, Weinhold N +65 more
Plain English This study looked at genetic factors that make people more likely to develop multiple myeloma, a type of blood cancer. Researchers analyzed data from nearly 10,000 patients and over 247,000 healthy individuals, identifying six new genetic areas linked to the disease, increasing the total to 23. These findings improve our understanding of how certain genes affect blood cell development and could help identify at-risk individuals and guide future treatments.
Who this helps: This benefits patients with multiple myeloma and doctors treating them.
Promoter capture Hi-C-based identification of recurrent noncoding mutations in colorectal cancer.
2018
Nature genetics
Orlando G, Law PJ, Cornish AJ, Dobbins SE, Chubb D +7 more
Plain English This study looked at the non-coding regions of DNA, which don't directly code for proteins but can still affect cancer development. The researchers discovered a specific area that frequently has mutations in colorectal cancer, which interacts with a gene called ETV1. Changes in ETV1 can impact how well cancer cells survive and are linked to patient survival rates, showing that understanding these mutations could help improve cancer treatment.
Who this helps: This benefits patients with colorectal cancer and their doctors.
Genetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology.
2018
Blood cancer journal
Went M, Sud A, Speedy H, Sunter NJ, Försti A +50 more
Plain English This study looked at the genetic links between two types of blood cancers: multiple myeloma (MM) and chronic lymphocytic leukaemia (CLL). Researchers found a significant genetic connection between them, with a correlation score of 0.4, indicating that people with one cancer may also have a higher risk of the other. They identified that both cancers share common risk factors, specifically 4 out of 45 CLL risk genes were linked to MM, and 5 out of 23 MM risk genes were linked to CLL. Understanding these shared genetic traits helps improve our knowledge of how these cancers develop, which can lead to better treatments and prevention strategies.
Who this helps: This research benefits patients with multiple myeloma and chronic lymphocytic leukaemia.
Plain English This study looked at how a mindfulness-based group program could help a 16-year-old girl at risk for type 2 diabetes who also had symptoms of depression. After participating in a 6-week mindfulness program, she experienced more mindfulness, fewer depressive symptoms, and reduced insulin resistance, and these benefits continued for a year. This is important because it highlights a potential new way to support young people facing both mental health challenges and diabetes risk without needing to focus only on weight loss.
Who this helps: This helps adolescents at risk for type 2 diabetes, especially those struggling with depression.
Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci.
2017
Scientific reports
Law PJ, Sud A, Mitchell JS, Henrion M, Orlando G +36 more
Plain English This study looked at the genetic factors that might increase the risk for chronic lymphocytic leukemia (CLL), Hodgkin lymphoma (HL), and multiple myeloma (MM) by analyzing data from nearly 7,100 patients. Researchers found a new genetic marker linked to an increased risk for CLL and HL but reduced risk for MM, along with several other known markers showing similar mixed effects. This discovery helps us understand the underlying biology of these blood cancers and may lead to better risk assessment and treatment options.
Who this helps: Patients with B-cell malignancies.
INSULIN TIMING: A PATIENT-CENTERED APPROACH TO IMPROVE CONTROL IN TYPE 1 DIABETES.
2017
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
Duran-Valdez E, Burge MR, Broderick P, Shey L, Valentine V +2 more
Plain English This study looked at how changing the timing of insulin injections affects blood sugar control in people with type 1 diabetes (T1D). Researchers found that when participants adjusted their insulin doses to be taken 15 minutes after meals instead of 30 minutes before, those with higher initial A1C levels showed a meaningful improvement. This matters because better blood sugar control can help prevent serious health issues for people with diabetes.
Who this helps: This helps patients with type 1 diabetes, especially those struggling to manage their blood sugar levels.
Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.
2017
Nature genetics
Melin BS, Barnholtz-Sloan JS, Wrensch MR, Johansen C, Il'yasova D +59 more
Plain English This research studied the genetic factors that influence the risk of two types of brain tumors: glioblastoma (GBM) and non-glioblastoma tumors. The team analyzed data from nearly 12,500 patients and found five new genetic locations linked to glioblastoma and eight linked to non-glioblastoma tumors, indicating that the two types of tumors have different genetic causes. This is important because it can lead to more targeted prevention and treatment strategies for each tumor type based on their unique genetic profiles.
Who this helps: Patients diagnosed with gliomas, their families, and doctors treating them.
Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.
2017
Nature genetics
Litchfield K, Levy M, Orlando G, Loveday C, Law PJ +28 more
Plain English This study looked at the genetic factors that make some people more likely to develop testicular germ cell tumors (TGCTs). Researchers analyzed data from over 30,000 individuals and discovered 19 new genetic locations linked to TGCTs, nearly doubling the total number of identified risk factors to 44. Understanding these genetic connections matters because it can lead to better insights into how these tumors develop and potentially improve prevention and treatment strategies.
Who this helps: This helps patients at risk for testicular cancer and their doctors by providing more information about genetic susceptibility.
Pilot randomized controlled trial of a mindfulness-based group intervention in adolescent girls at risk for type 2 diabetes with depressive symptoms.
2017
Complementary therapies in medicine
Shomaker LB, Bruggink S, Pivarunas B, Skoranski A, Foss J +7 more
Plain English This study looked at a mindfulness program for girls aged 12-17 who are at risk for type 2 diabetes and also experiencing depression. Out of 33 girls, those who participated in the mindfulness program attended more sessions (92%) compared to those in a cognitive-behavioral program (87%). After six weeks, the girls in the mindfulness group reported significantly lower depressive symptoms and showed better insulin sensitivity than those in the cognitive-behavioral group.
Who this helps: This benefits adolescent girls at risk for type 2 diabetes and their healthcare providers.
Depressive symptoms in patients with obstructive sleep apnea: biological mechanistic pathways.
2017
Journal of behavioral medicine
Chirinos DA, Gurubhagavatula I, Broderick P, Chirinos JA, Teff K +7 more
Plain English This study looked at how depressive symptoms relate to certain biological factors in 181 obese adults with moderate-to-severe obstructive sleep apnea (OSA). Researchers found that patients who experienced more time with low oxygen levels during sleep had higher somatic (physical) depressive symptoms, showing a significant link (with a value of P = 0.032). However, no strong connections were found between overall depression scores and levels of inflammation or leptin.
Who this helps: This information helps patients with OSA and their doctors understand how sleep-related factors might impact their physical symptoms of depression.
Should Posttraumatic Stress Be a Disorder or a Specifier? Towards Improved Nosology Within the DSM Categorical Classification System.
2017
Current psychiatry reports
Guina J, Baker M, Stinson K, Maust J, Coles J +1 more
Plain English This paper looked at how posttraumatic stress (PTS) disorder is classified in the DSM, which is a manual used by mental health professionals. It found that the way PTS is categorized doesn't fit well, as it shows a wide variety of symptoms and affects people differently—some may struggle severely while others remain resilient. The authors argue that instead of being a standalone disorder, PTS should be treated as an additional feature of other mental health conditions.
Who this helps: This helps mental health professionals by providing clearer guidelines for diagnosing and treating patients with trauma-related symptoms.
Effect of CPAP, Weight Loss, or CPAP Plus Weight Loss on Central Hemodynamics and Arterial Stiffness.
2017
Hypertension (Dallas, Tex. : 1979)
Jain S, Gurubhagavatula I, Townsend R, Kuna ST, Teff K +9 more
Plain English This study examined how continuous positive airway pressure (CPAP) therapy, weight loss, or a combination of both affects blood pressure and artery stiffness in 139 overweight adults with obstructive sleep apnea. The researchers found that only people who used both CPAP and lost weight experienced a significant drop in central systolic blood pressure by 7.4 mmHg. This finding is important because it indicates that combining these two treatments can effectively lower important blood pressure measurements, which may benefit heart health.
Who this helps: Patients with obesity and obstructive sleep apnea.
Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility.
2017
Nature communications
Sud A, Thomsen H, Law PJ, Försti A, Filho MIDS +31 more
Plain English This study examined the genetic factors that might increase the risk of developing classical Hodgkin lymphoma by analyzing data from over 5,300 patients and nearly 16,800 healthy individuals. Researchers identified several specific genetic markers linked to the disease, including one marker (rs9482849) on chromosome 6, which had a very high significance level (P = 1.52 x 10^-10). These findings help us understand the genetic basis of Hodgkin lymphoma, which could lead to better risk assessment and targeted treatments for this cancer.
Who this helps: This research benefits patients at risk of Hodgkin lymphoma as well as their doctors and healthcare providers.
CanVar: A resource for sharing germline variation in cancer patients.
2016
F1000Research
Chubb D, Broderick P, Dobbins SE, Houlston RS
Plain English This study introduces CanVar, an online database that collects and shares information about genetic variations in cancer patients, particularly focusing on early-onset colorectal cancer. Initially, it includes data from 1,006 patients, which helps researchers understand how common certain genetic changes are among people with this type of cancer. This resource is important because it aids in diagnosing and understanding hereditary cancer risks, improving the accuracy of genetic testing and research.
Who this helps: Patients with a family history of cancer and their doctors benefit from this shared genetic information.