Author Interviews, Breast Cancer, Cancer Research, Genetic Research, Ovarian Cancer / 22.07.2020

MedicalResearch.com Interview with: Prof Ranjit Manchanda MD, MRCOG, PhD Professor of Gynaecological Oncology & Consultant Gynaecological Oncologist NHS Innovation Accelerator (NIA) Fellow Integrated Academic Training Programme Director London Specialty School of Obstetrics & Gynaecology, Health Education England Specialty Research Lead for Gynaecological Cancer, NIHR, North Thames Clinical Research Network Cancer Research UK, Barts Centre | Queen Mary University of London Centre for Cancer Prevention, Wolfson Institute of Preventive Medicine | Charterhouse Square | London Department of Gynaecological Oncology | Barts Health NHS Trust, Royal London Hospital MedicalResearch.com: What is the background for this study? Response: Around 10–20% of ovarian cancers and 6% breast cancers overall are caused by inheritable BRCA1/BRCA2 mutations. Women carrying BRCA1/BRCA2 mutations have a 17–44% risk of ovarian cancer and 69–72% risk of breast cancer until age 80 years. Most of these cancers can be prevented in unaffected BRCA1/BRCA2 women carriers. Women can opt for a range of options including screening, preventive, and reproductive choices to minimise their risk. The current approach uses established clinical-criteria/family-history (FH) based a priori BRCA probability thresholds to identify high-risk individuals eligible for BRCA testing. However, this requires individuals and health practitioners to recognise and act on a significant FH. BRCA carriers, who are unaware of their FH, unappreciative of its risk/significance, not proactive in seeking advice, or lack a strong FH (small families/paternal inheritance/chance) get excluded. Over 50% BRCA carriers do not fulfil clinical criteria and are missed. Despite >25 years of BRCA testing and effective mechanisms for prevention, current guidelines and access to testing pathways remain complex and associated with a massive under-utilisation of genetic testing. Only 20% of eligible women have accessed/undergone genetic testing and our earlier analysis showed that 97% of BRCA carriers in the population remain unidentified. Current detection rates are inadequate to identify all BRCA carriers and even doubling detection rates will not work. Why should we wait for decades for people to develop cancer before identifying BRCA carriers and unaffected at-risk family members to offer prevention?. This highlights substantial missed opportunities for early detection and prevention. A new population testing approach can change this. Jewish population studies show this is feasible, acceptable, has high satisfaction (91–95%), significantly reduces anxiety, doesn’t harm psychological well-being or quality of life, and is extremely cost-effective. However, this has not been evaluated in the general population and in particular across different  countries or health systems. The potential applicability and scope for this approach transcends continents and countries. Additionally, for interventions to be sustainable, they need to be cost-effective and affordable. We have undertaken a cost-effectiveness analysis of population based BRCA testing compared with current standard clinical testing of women designated as high risk, across high income countries (UK/USA/Netherlands), upper-middle income countries (China/Brazil), and low-middle income country (India). (more…)
Author Interviews, Genetic Research, Nature, Technology / 15.07.2020

MedicalResearch.com Interview with: Dr.Altuna Akalin PhD Head of Bioinformatics and Omics Data Science Platform Berlin Institute for Medical Systems Biology (BIMSB) Max Delbrück Center for Molecular Medicine (MDC) Berlin, Germany  MedicalResearch.com: What is the background for this study? Where does the word Janggu come from?  Response: Deep learning applications on genomic datasets used to be a cumbersome process where researchers spend a lot of time on preparing and formatting data before they even can run deep learning models. In addition, the evaluation of deep learning models and the choice of deep learning framework were also not straightforward. To streamline these processes, we developed JangguWith this framework, we are aiming to relieve some of that technical burden and make deep learning accessible to as many people as possible. Janggu is named after a traditional Korean drum shaped like an hourglass turned on its side. The two large sections of the hourglass represent the areas Janggu is focused: pre-processing of genomics data, results visualization and model evaluation. The narrow connector in the middle represents a placeholder for any type of deep learning model researchers wish to use.  (more…)
Aging, Author Interviews, Genetic Research / 24.06.2020

MedicalResearch.com Interview with: Andrea Bodnar, Ph.D., Science Director Gloucester Marine Genomics Institute (GMGI) MedicalResearch.com: What is the background for this study? How does gene expression differ in the red sea urchin from humans?  Why is this animal not susceptible to age-related deterioration? Response: The red sea urchin is one of the earth’s longest-lived animals, living for more than 100 years without showing signs of aging. These animals grow and reproduce throughout their lives and show no increase in mortality rate or incidence of disease with age. This includes no reported cases of neoplastic disease, like cancer. To begin to understand the cellular mechanisms underpinning this extraordinary life history this study investigated gene expression patterns in the tissues of young and old red sea urchins. (more…)
Author Interviews, Dermatology, Genetic Research / 01.06.2020

MedicalResearch.com Interview with: Sarah E. Millar, Ph.D. Director, Black Family Stem Cell Institute Professor, Departments of Cell, Developmental and Regenerative Biology and Dermatology Icahn School of Medicine at Mount Sinai New York, NY MedicalResearch.com: What is the background for this study? Response: One of the major roles of the skin is to serve as a protective barrier, both preventing external insults, such as toxins and pathogens, from entering the body, and helping to retain moisture. The mechanisms required for appropriate skin barrier formation remain incompletely understood. Elucidating these processes is important for understanding and developing improved treatments for dermatological diseases in which the skin barrier is dysfunctional, such as eczema and psoriasis. Understanding epigenetic regulators, proteins that modify the structure of genetic material, is an area of scientific interest, as many new drugs target these proteins. Importantly, multiple epigenetic regulators have been shown to be important in skin development. My lab has focused on one group of epigenetic regulators, histone deacetylases (HDACs), because HDAC inhibitors show promise for treating several different cancers and other disorders in which cell proliferation is poorly controlled. We previously showed that HDACs 1 and 2 are required for normal skin development. In the current study, we investigated whether the related protein HDAC3 is also important in establishing the skin barrier.  (more…)
Author Interviews, Diabetes, Genetic Research, Pancreatic / 15.05.2020

MedicalResearch.com Interview with: Dr. Núria Malats, MD PhD, Head of the Genetic and Molecular Epidemiology Group Spanish National Cancer Research Centre (CNIO)  MedicalResearch.com: What is the background for this study? Response: The high mortality of pancreatic cancer is a consequence of late diagnosis because of the absence of symptoms in the earliest stages, and defining risk populations is therefore crucial to be able to carry out diagnostic tests that reveal the presence of the tumour as early as possible. Diabetes and pancreatic cancer are connected because the pancreas secretes insulin; in diabetic people, this does not occur in a normal way. It is estimated that around 50% of patients with pancreatic cancer presents diabetes. But it is an outstanding challenge for researchers to figure out which is the cause and which is the consequence.  To conduct the study, the team used data from more than 3,500 persons from PanGenEU, a large European study involving centres from six countries, including Spain, and led by Malats, to analyse the relationship between multiple risk factors and pancreatic cancer. (more…)
Author Interviews, Cancer Research, Genetic Research, JAMA / 14.05.2020

MedicalResearch.com Interview with:
  • Sung Jun Ma, MD, resident physician in Radiation Medicine at Roswell Park Comprehensive Cancer Center (first author)
  • Oluwadamilola T. Oladeru, MD, a resident physician at Massachusetts General Hospital Cancer Center
MedicalResearch.com: What is the background for this study? Response: More than 40% of women with hormone receptor-positive, HER2-negative early-stage breast cancer have high recurrence scores (RS) of 26-30. Optimal adjuvant systemic therapy in this subgroup remains unclear, and national guidelines currently recommend either chemoendocrine therapy or endocrine therapy alone. In addition, the difference in overall survival of a patient with a RS 26-30 versus RS >30 is unclear. (more…)
Author Interviews, Brigham & Women's - Harvard, Gender Differences, Genetic Research, Nature / 13.05.2020

MedicalResearch.com Interview with: Nolan Kamitaki PhD Harvard Medical School MedicalResearch.com: What is the background for this study? Response: Previous work from our lab found that the strongest common genetic association to schizophrenia is driven in part by copy number variation of the C4 genes.  Given that lupus and Sjogren's syndrome, two autoimmune disorders, have association patterns that span the same region of the human genome, we wondered if part of the signal for these diseases may also arise from variation of C4 given that both have hypocomplementemia as a characterizing trait.   The other main finding is that these associations appear to be sex-biased, where the protection from each additional copy of the C4 gene was greater in men than in women.  When we went back to the data used in the previous study from our lab association C4 variation to schizophrenia, we found that the effect was stronger in men there as well.  Although the expression of C4 at the RNA level does not appear to differ between men and women, we saw that men had more C4 protein in both cerebrospinal fluid and blood plasma, suggesting that this may explain the greater genetic association in men. (more…)
Author Interviews, Breast Cancer, Cancer Research, Genetic Research, JAMA / 08.05.2020

MedicalResearch.com Interview with: Anurag K. Singh MD Professor of Oncology Director of Radiation Research Leader, Cell Stress and Biophysical Therapy Program Associate Dean Graduate Medical Education, Research Roswell Park Comprehensive Cancer Center Buffalo NY MedicalResearch.com: What is the background for this study? Response: More than 40% of women with hormone receptor-positive, HER2-negative early stage breast cancer with high recurrence scores (RS) have RS of 26-30. Optimal adjuvant systemic therapy in this subgroup remains unclear, and national guideline currently recommends either chemoendocrine therapy or endocrine therapy alone. In addition, the difference in overall survival of a patient with a RS 26-30 versus RS >30 is unclear.   (more…)
Author Interviews, Cancer Research, Genetic Research / 04.05.2020

MedicalResearch.com Interview with: Rebecca Nagy Vice President Medical Affairs Guardant Health  MedicalResearch.com: What is the background for this study? Response: Hormone receptor positive (HR+) breast cancer comprises roughly 75% of all cancers of the  breast. While many of these cancers can be cured through multi-modality therapy, there remain many deaths due to metastatic spread to distant organs. These metastatic cancers are marked by their resilience in the face of potent targeted therapies and chemotherapies, with many tumors displaying an initial drug response followed by resistance. Recently, genomic sequencing has identified recurrent, oncogenic alterations in HR+ metastatic breast cancer (MBC) with mutations in the catalytic alpha subunit of PI3K (PI3Kα, PIK3CA gene), in over 40% of cases. This has raised hopes for more durable disease control through precise inhibition of this driver oncogene. The SOLAR-1 Phase III study of alpelisib combined with fulvestrant in PIK3CA-mutated HR+ MBC showed a markedly improved PFS over fulvestrant monotherapy but pervasive resistance nonetheless. To characterize the basis for such resistance to combination hormone plus PIK3CA targeted therapy, we conducted a detailed, longitudinal analysis of tumor and plasma circulating cell-freetumor DNA (ctDNA) among patients with HR+ MBC who participated in a phase I/II dose escalation study of alpelisib in combination with letrozole or exemestane.  (more…)
Author Interviews, Cancer Research, Genetic Research, Melanoma / 29.04.2020

MedicalResearch.com Interview with: Dr. Matthew H. Law, PhD Senior Research Officer, Statistical Genetics QIMR Berghofer MedicalResearch.com: What is the background for this study? Response: A large genetic study of melanoma involving a global collaboration of scientists, co-led by QIMR Berghofer, the University of Leeds in the UK, and the National Cancer Institute in the US which is part of the National Institutes of Health, has been published in the prestigious journal Nature Genetics. Melanoma is a sometimes-deadly skin cancer, with an estimated 350,000 cases worldwide in 2015, resulting in nearly 60,000 deaths. Melanoma begins in melanocytes, cells in the skin responsible for making the pigment melanin that gives colour to the skin. Melanin is able to block some of the harmful effects of UV radiation, which is why people with pale skin are at a higher risk of skin cancer, but the protection is not complete. Moles also develop from melanocytes, and having a high number of moles is a risk factor for melanoma. UK based co-lead author, Dr Mark Iles from the University of Leeds’s Institute for Data Analytics, said the researchers examined DNA from 37,000 people who had been diagnosed with melanoma and compared their genetic information to that of nearly 400,000 people with no history of the disease.” Joint study leader and QIMR Berghofer statistical geneticist Associate Professor Matthew Law said the researchers identified 33 new regions of the genome and confirmed another 21 previously reported regions that are linked to a person’s risk of developing melanoma of the skin. Two of the new regions we’ve discovered that are linked to melanoma have previously been linked to autoimmune disorders. This provides further evidence that the immune system plays an important role in a person developing melanoma. We also found an association between melanoma and common genetic variants in the gene TP53, which is a gene critical in controlling DNA repair when cells divide, and in suppressing cancer.” Co-lead author on the study and senior investigator at the National Cancer Institute, Dr Maria Teresa Landi, said the research also uncovered other important clues to the genetic causes of melanoma. We used the relationship between moles, pigmentation, and melanoma to identify 31 additional gene regions that potentially influence melanoma risk. For example, one of the regions we identified is involved in melanocyte growth,” Dr Landi said. “Moreover, we also included people from Mediterranean populations involved in the MelaNostrum Consortium. Most studies of melanoma use people with northern or western European ancestry (e.g. British) and by expanding our analysis to include Mediterranean populations, we will gain a greater understanding of the genetics of melanoma in this highly sun exposed group.” (more…)
Author Interviews, Diabetes, Genetic Research, Personalized Medicine / 27.04.2020

MedicalResearch.com Interview with: Fumihiko Urano, MD, PhD Samuel E. Schechter Professor of Medicine Division of Endocrinology, Metabolism, and Lipid Research Washington University School of Medicine MedicalResearch.com: What is the background for this study? Response: Wolfram syndrome is a rare monogenic disease characterized by insulin-dependent diabetes, retinal degeneration, and neurodegeneration. Using gene editing by CRISPR-Cas9, in combination with patient-derived induced pluripotent stem cells (iPSCs), we were able to make normal insulin-producing pancreatic beta cells by correcting Wolfram Syndrome gene mutation. We could cure diabetes in cells and mice. Because we can create any types of tissues from iPSCs, our next step would be to replicate this success for other medical problems, including retinal regeneration and neurodegeneration. (more…)
Author Interviews, Genetic Research, Nature, Prostate Cancer, Vanderbilt / 24.03.2020

MedicalResearch.com Interview with: Jeffrey R. Smith, MD PhD Department of Medicine, Division of Genetic Medicine Vanderbilt-Ingram Cancer Center, and Vanderbilt Genetics Institute Vanderbilt University Medical Center Medical Research Service Tennessee Valley Healthcare System, Veterans Administration Nashville, TN MedicalResearch.com: What is the background for this study?   Response: Roughly 20% of men with prostate cancer have a family history of the disease, and 5% meet criteria for hereditary prostate cancer. Although prostate cancer has the greatest heritability of all common cancers (twice that of breast cancer), extensive heterogeneity of its inherited causes has presented a considerable obstacle for traditional pedigree-based genetic investigative approaches. Inherited causes across, as well as within families are diverse. This study introduced a new familial case-control study design that uses extent of family history as a proxy for genetic burden. It compared a large number of men with prostate cancer, each from a separate family with a strong history of the disease, to screened men with no personal or family history. The study comprehensively deconstructs how the 8q24 chromosomal region impacts risk of hereditary prostate cancer, introducing several new analytical approaches. The locus had been known to alter risk of prostate, breast, colon, ovarian, and numerous additional cancers. (more…)
Author Interviews, Breast Cancer, Genetic Research, JAMA, Stanford / 12.03.2020

MedicalResearch.com Interview with: Allison W. Kurian, M.D., M.Sc. Associate Professor of Medicine (Oncology) and of Epidemiology and Population Health Director, Women’s Clinical Cancer Genetics Program Stanford University School of Medicine Stanford, CA 94305-5405 MedicalResearch.com: What is the background for this study? Response: Genetic testing is increasingly relevant for the care of cancer patients. However, little was known about the prevalence of inherited mutations in cancer susceptibility genes among the most common group of women with breast cancer: those diagnosed after menopause and without a strong family history of cancer.  (more…)
Asthma, Author Interviews, Genetic Research, Nature / 28.02.2020

MedicalResearch.com Interview with: Zbigniew Zasłona PhD Luke A. J. O’Neill PhD Professor (Chair of Biochemistry) School of Biochemistry and Immunology Trinity Biomedical Sciences Institute Trinity College Dublin, Dublin, Ireland  MedicalResearch.com: What is the background for this study? Response: Asthma is the most common disease in childhood and the most common respiratory condition in Ireland. It is a disease of environmental and genetic components. It is important to point out that although Ireland has very good air quality, asthma prevalence is very high (the second highest in Europe), and although asthma is not a single gene disease (such as cystic fibrosis) it is very important to study genetic variations in Irish population. Therefore in this study we put emphasis on the genetic component of asthma, rather than environmental factors, especially given that asthma heritability has been estimated as high as 60%. Prevention of asthma by reducing exposure to common risk factors, such as air pollution, will not stop the asthma epidemic in Ireland, as inferior air quality is not an issue. (more…)
AACR, Author Interviews, Cancer Research, Genetic Research, Yale / 27.02.2020

MedicalResearch.com Interview with: Lajos Pusztai, M.D, D.Phil. Professor of Medicine Director, Breast Cancer Translational Research Co-Director, Yale Cancer Center Genetics and Genomics Program Yale Cancer Center Yale School of Medicine New Haven, CT 05620  MedicalResearch.com: What is the background for this study? Response: We analyzed breast cancer tissues obtained before any therapy and the same cancers after 20 weeks of chemotherapy. This setting is ideal to find out what genomic changes have occurred in cancers that survived therapy. Due to the paucity of such specimens few other studies exist in this space. (more…)
Author Interviews, Endocrinology, Gender Differences, Genetic Research, Science / 22.02.2020

MedicalResearch.com Interview with: Lawrence C. Layman, M.D. Robert B. Greenblatt, M.D., Distinguished Chair in Endocrinology Professor & Chief Section of Reproductive Endocrinology, Infertility, & Genetics Department of Obstetrics & Gynecology Director, REI Fellowship Program Co-Director, MD/PhD Program Department of Neuroscience & Regenerative Medicine Department of Physiology Medical College of Georgia at Augusta University MedicalResearch.com: What is the background for this study? Response: I have taken care of many transgender patients over the past 20 years. We think there is a biological basis for transgender identity rather than choice. Animal models suggest that exposure to estrogen or testosterone at a critical time during development will render an animal of either sex to behave as male with aggressive behavior and they will mount females. If this pathway is blocked, then the end result is more receptive, female sexual behavior. We thought that variants in genes involved in metabolizing these hormones in the brain could play some role in transgender identity. Because the cost of sequencing all genes was similar to the cost of looking for changes in just these genes, we performed whole exome sequencing (sequencing the protein coding regions of genes) on about 30 transgender patients. (more…)
Author Interviews, Genetic Research, Heart Disease, Imperial College, JAMA / 19.02.2020

MedicalResearch.com Interview with: Dr. Ioanna Tzoulaki Imperial College London MedicalResearch.com: What is the background for this study? Response: Considerable progress has been made in identifying genetic variants that are associated with heart disease. We aimed to investigate whether genetic information can be used to assess the risk of individuals developing heart disease in the future and whether genetic tests can improve current risk assessment strategies which are based on easy to measure factors such as age, sex, smoking status, cholesterol levels, blood pressure and presence of type 2 diabetes. (more…)
Author Interviews, Cancer Research, Gender Differences, Genetic Research / 21.01.2020

MedicalResearch.com Interview with: Alejandro Cáceres PhD Juan R. González, PhD Barcelona Institute for Global Health (ISGlobal) Barcelona, Spain. MedicalResearch.com: What is the background for this study? What are the main findings? Response: Men have more risk and worse prognosis to cancer than women. There are many environmental factors but also biological differences. We find that the loss of function of six genes (DDX3Y, EIF1AY, KDM5D, RPS4Y1, UTY and ZFY) in chromosome Y is one of the biological factors for the differences between sexes in relation to cancer risk and prognosis.  (more…)
Author Interviews, Education, Genetic Research, PNAS / 20.01.2020

MedicalResearch.com Interview with: Per Engzell PhD Postdoctoral Prize Research Fellow Nuffield College, University of Oxford
Felix C. Tropf, PhD Assistant Professor in Social Science Genetics, CREST-ENSAE, Paris
MedicalResearch.com: What is the background for this study? Response: We know that parents and offspring often resemble each other in their socio-economic outcomes: higher-educated parents tend to have children who reach a similar level of education while children of disadvantaged families struggle in school. To the extent that this compromises equality of opportunity – that is, some children end up better educated only because of their social background – social policies aim to compensate for it and promote social mobility. At the same time, not all similarity between parents and offspring can be seen as equally troubling. A society that blocked entry to university for any child born to academics would achieve high mobility, but few of us would see it as a model of equal opportunity. So some channels of transmission then, it seems, are more fair than others. Although we may disagree where to draw the line, things like parents’ ability to pay for good neighborhoods, schools, or access to college appear clearly more troubling than the inheritance of traits that make for educational success. In this study, we ask whether societies that have achieved a high degree of intergenerational mobility have done so by limiting the reach of "nature" (inherited traits), "nurture" (other family advantages), or both. We do so by combining the rich literatures of social mobility research and behavior genetics, comparing variation across several cohorts of men and women in 10 countries.  (more…)
Author Interviews, Cognitive Issues, Genetic Research / 15.01.2020

MedicalResearch.com Interview with: Haining Zhu, PhD Department of Molecular and Cellular Biochemistry University of Kentucky, Lexington, Kentucky MedicalResearch.com: What is the background for this study? Response: Frontotemporal dementia is the most common type of early onset dementia impacting people between ages 40 and 65. It affects the frontal and temporal lobes of the brain, which leads to behavior and personality changes, difficulty speaking and writing, and eventual memory deterioration. A subgroup of patients with frontotemporal dementia have a specific genetic mutation that prevents brain cells from making a protein called progranulin. Although progranulin is not well understood, its absence is linked to the disease. (more…)
Author Interviews, Genetic Research, Heart Disease, JAMA, Weight Research / 08.01.2020

MedicalResearch.com Interview with: Ravi V. Shah, MD Cardiology Division, Department of Medicine Massachusetts General Hospital Boston, MA Venkatesh L. Murthy MD, PhD Division of Cardiovascular Medicine Department of Medicine and Frankel Cardiovascular Center University of Michigan Ann Arbor, MI MedicalResearch.com: What is the background for this study? Response: We were interested in evaluating how added information like fitness assessed on a treadmill exercise test, physical activity questionnaires and genetic risk scores could inform patients and doctors’ understanding of how an individuals BMI might change over time. We used one of the latest and broadest polygenic risk scores. We investigated the CARDIA cohort, a study sponsored by the National Heart, Lung, and Blood Institute, who were young adults aged 18 to 30 and have been followed serially for 25 years. (more…)
Author Interviews, Cancer Research, Genetic Research / 18.12.2019

MedicalResearch.com Interview with: Dr. Aaron Elliott, PhD CEO Ambry Genetics Dr. Elliott discusses The New York State Clinical Laboratory Evaluation Program (CLEP) approval of +RNAinsight™, a new genetic test for hereditary cancer risk.  MedicalResearch.com: What is the background for this announcement? What types of cancers can be genetically tested for predisposition? To whom should the testing be offered?  Response: The New York State Clinical Laboratory Evaluation Program (CLEP) has approved +RNAinsight, which enables clinicians – for the first time ever – to conduct both DNA and RNA genetic testing at the same time. This is the first genetic testing advancement in over a decade to significantly increase the diagnostic yield (meaning the number of patients identified with a specific hereditary risk for cancer) in genes like BRCA1 and BRCA2. With +RNAinsight, Ambry is the first and only lab to offer this paired RNA and DNA genetic testing. Genetics may contribute to individuals’ risk of developing a number of cancers, including breast, ovarian, prostate, colorectal, and others. Approximately five to 10 percent of cancer cases are hereditary, according to the National Cancer Institute. The National Society of Genetic Counselors (NSGC) guidelines indicate who should receive genetic testing to learn whether they have increased risks to develop hereditary cancer. For example, someone with close family members who developed cancer at young ages may be a good candidate. (more…)
Author Interviews, Breast Cancer, Genetic Research / 15.12.2019

MedicalResearch.com Interview with: Dr. Julia Blanter, MD MS Icahn School of Medicine at Mount Sinai First author of the study MedicalResearch.com: What is the background for this study? Response: The Oncotype DX Breast Cancer Assay was developed to genetically profile patients with early stage, hormone positive breast cancer and predict their 10-year risk of distant recurrence. A high-risk recurrence score is associated with a benefit from adjuvant chemotherapy whereas a low risk recurrence score is associated with little to no benefit. BRCA mutated tumors have been associated with higher risk recurrence scores as compared to BRCA negative breast cancer patients. However, there have been minimal studies relating discordance to BRCA mutations. Discordance refers to a poorly differentiated or high-grade tumor with a low risk recurrence score. Prior studies demonstrated 7-19% discordance, or difference between recurrence score and tumor grade in breast cancer patients regardless of BRCA mutation status. It has been concluded that patients who exhibit discordance may benefit from additional therapy in conjunction with endocrine therapy. (more…)
Author Interviews, Autism, Genetic Research, Nature, Pediatrics / 10.12.2019

MedicalResearch.com Interview with: Dr. Stephen Scherer, PhD, FRSC Senior Scientist, Genetics & Genome Biology Director, The Centre for Applied Genomics SickKids Hospital Toronto MedicalResearch.com: What is the background for this study? Response: One of the most common questions we get from parents with a child with autism is, "what is the likelihood of having a second or third child with autism, and what is the chance others in our family will have kids with autism?". To help provide answers to these questions, we started the infant (or baby) siblings study ten years ago. Families having an older sibling with a diagnosis of autism were invited to enroll their next born for assessment and following to see if they also developed autism, and what the likelihood of that happening was. Biological samples like blood, and DNA from blood, were also collected and tested.  (more…)
Author Interviews, Cancer Research, Genetic Research, Pharmaceutical Companies / 26.11.2019

MedicalResearch.com Interview with: Ambry GeneticsRachid Karam, MD PhD Director, Ambry Translational Genomics Lab Ambry Genetics MedicalResearch.com: What is the background for this study? Response: Standard DNA testing for hereditary cancer risk excludes large portions of DNA, thereby missing some mutations. In addition, DNA testing can produce inconclusive results and fail to determine that an error in our DNA increases cancer risk. These limitations impact patients and their families because doctors may not have the information needed to recommend appropriate preventive, early detection, or therapeutic steps. Additionally, relatives may not be referred for genetic testing and obtain the care they would otherwise have gotten if they had learned they had mutations. The study looked at how the addition of RNA genetic testing to standard DNA testing for hereditary cancer risk was able to increase diagnostic yield. The study looked at the first 2,500 patients that received Ambry Genetics +RNAinsight™, paired RNA and DNA genetic testing for hereditary cancer risk. The data from this study showed that the addition of RNA genetic testing to DNA testing (1) identified new mutations that would have been missed with DNA testing alone, and (2) clarified inconclusive results as disease-causing. (more…)
Author Interviews, Genetic Research, Kidney Disease, Mineral Metabolism, Pediatrics / 10.11.2019

MedicalResearch.com Interview with: Tracy McGregor, MD MSCI Alnylam Pharmaceuticals Cambridge, Massachusetts  MedicalResearch.com: What is the background for this study?
  • Lumasiran is an investigational RNA interference (RNAi) therapeutic in development for the treatment of primary hyperoxaluria type 1 (PH1). PH1 is a rare life-threatening disease in which a enzymatic deficiency in the liver results in pathologic overproduction of oxalate, often leading to recurrent kidney stones and a progressive decline in kidney function, which typically culminates in end-stage renal disease (ESRD).Patients with ESRD are at a risk of systemic oxalosis, with oxalate depositing throughout the body, including the eyes, skin, bones, and the heart. Complications associated with ESRD and/or systemic oxalosis can be fatal. For patients with ESRD treatment options are limited and include intensive dialysis as a bridge to a dual liver/kidney transplant, highlighting the unmet need for new treatment options. 
(more…)
Author Interviews, Genetic Research, JAMA, Ophthalmology / 02.11.2019

MedicalResearch.com Interview with: Professor Jeremy A. Guggenheim School of Optometry & Vision Sciences Cardiff University, UKProfessor Jeremy A. Guggenheim School of Optometry & Vision Sciences Cardiff University, UK MedicalResearch.com: What is the background for this study? Response: Near-sightedness (myopia) usually develops during childhood and necessitates the use of glasses or contact lenses to correct blurry distance vision. It is also a risk factor for sight-threatening disorders such as glaucoma, retinal detachment and macular degeneration. Promising treatments designed to slow the progression of myopia are becoming available. Building on previous research suggesting that some individuals are genetically predisposed to near-sightedness, we investigated whether a genetic test could identify children at risk of developing myopia.  (more…)
Author Interviews, Cancer Research, Genetic Research, Pharmaceutical Companies / 23.10.2019

MedicalResearch.com Interview with: Ambry GeneticsRachid Karam, MD, PhD Ambry Genetics Aliso Viejo, California MedicalResearch.com: What is the background for this study? Response: DNA genetic testing is a powerful tool used to tailor medical care based on an individual’s cancer risk. However, even medical grade DNA genetic testing can produce inconclusive results, finding a change in our DNA to be a variant of unknown significance (a VUS) and failing to determine whether it increases cancer risk. When this happens, healthcare providers might not have the information needed to recommend appropriate preventive and early detection steps, or certain cancer treatments, and relatives may not be referred for genetic testing for their own care. In this study, investigators from Ambry, Dana-Farber Cancer Institute, Cedars-Sinai Medical Center, Rutgers Cancer Institute, and University of Kansas Cancer Center demonstrated that performing both DNA and RNA genetic testing reduces inconclusive results enabling clinicians to offer cancer screening and treatment resources to the right patients. (more…)
Author Interviews, Genetic Research, Pediatrics / 14.10.2019

MedicalResearch.com Interview with: Dr Nicole Van Bergen B Sc (Hon), PhD Senior Research Officer, Neurodevelopmental Genomics, Murdoch Children's Research Institute Honorary Fellow, Department of Paediatrics, The University of Melbourne Murdoch Children's Research Institute The Royal Children's Hospital Parkville, Victoria Australia  MedicalResearch.com: What is the background for this study? What are the main findings? Response: We are in an era when the price tag of genetic testing by next generation sequencing is becoming a cost-effective and rapid tool for medical diagnosis. The benefit to patients is often a more accurate and early diagnosis. Because we can do genetic analysis on blood or saliva, we don’t need to use more traditional invasive investigations such as biopsies, brain scans or other extensive imaging. We are reaching an unprecedented rate of discovery of new genes for rare disorders which will help solve the mystery for many previously undiagnosed conditions. An incredibly talented international team of researchers, led by the Murdoch Children’s Research Institute (MCRI) identified the underlying cause of a rare brain disorder in children. Together they identified that pathogenic mutations in a gene called NAXD cause severe neurological damage in children after an episode of mild fever or illness. Only six cases have been recorded worldwide and all the children died soon after suffering either a fever or illness. The research paper, ‘NAD(P)HX Dehydratase (NAXD) Deficiency: A Novel Neurodegenerative Disorder Exacerbated By Febrile Illnesses’ is published in the latest edition of the journal, Brain. MCRI lead laboratory researcher Nicole Van Bergen, said the research provides an excellent example of how new genetic testing technologies can be applied to solve the mystery of previously undiagnosed conditions. “By coupling the genetic testing information with sophisticated functional genomic approaches in the laboratory, we were able to pinpoint the exact cause of this disorder,”Dr Van Bergan said. “We used skin cells from patients, as well as other laboratory tools, to work out the gene that caused the children’s early death. (more…)