Springer Nature

Although genetic sequencing has aided the diagnosis of many genetic diseases, only about one third of children with unknown or rare genetic diseases end up with a diagnosis after exome sequencing. To help these patients, Stanley Nelson, professor of human genetics at the David Geffen School of Medicine at UCLA, wanted to explore the genome more effectively. In a recent publication in GIM, Dr. Nels...

One of the most common chromosomal deletions in humans happens on chromosome 22. It’s known as 22q and affects as many as one in 2,000 live births. People with the deletion can present with a wide variety of traits. Some have heart defects. Others have defects in the palate, while still others have developmental delays. But in 2005, Donna McDonald-McGinn, director of the 22Q and You Center at the...

Neonatal encephalopathy (NE) is associated with substantial morbidity and mortality and affects around 1.5/1000 live term births. Predicting the severity and outcome of neonates with NE is therefore vital in order to provide the best care for neonates with NE, and a biochemical marker obtained at birth would therefore be useful to bolster the current scoring system. In this episode, Geoff Marsh sp...

The recreational drug MDMA, also known as Ecstasy or Molly, is particularly popular in social settings and raves, in large part because of how socially connected it makes the users feel. It’s being studied for use in psychotherapy —there’s a phase III clinical trial for the use of MDMA to treat PTSD. What’s clear is that the drug affects how users experience social interactions. But there are ques...

Every year more than half a million people in the US have stents placed in narrow blood vessels to improve blood flow to the heart. Following the procedure, patients typically need treatment with anti-clotting drugs. The go-to medication is clopidogrel, a prodrug that requires activation by an enzyme called CYP2C19. However, about a third of patients carry variants that render CYP2C19 ineffective....

For term-born infants, low birth weight has been shown to correlate with a broad array of adverse cardiometabolic outcomes, and excess glucocorticoid exposure has been linked to these relationships. Also, intra-uterine growth restriction (IUGR) in term-born infants has been linked to subsequent increases in adrenal androgen activity. In this episode, we meet Kristi Watterberg, a professor of Pedia...

Over-the-counter (OTC) medications are used in an estimated 70% of pregnancies. Acetaminophen, also known as paracetamol is found in a large number of OTC and prescription drugs. Given its prevalence and its ability to freely cross the placenta, researchers are now focusing on the safety of maternal exposure to this drug and its effects on fetal health. There have been inconsistent results in both...

As the appetite for clinical genetic testing grows, it seems the demand for geneticists able to provide the needed services outpaces the supply. Yet health services do not have a way to measure that growth or the resources needed to provide those services. In a recent study published in GIM, researchers describe a new framework for evaluating the resource needs of clinical genetics services, inclu...

Depression is an incredibly important disorder—according to Thomas Schlaepfer, head of the department of interventional biological psychiatry at the University of Freiburg, at least 20 percent of people have a depressive episode at least once in their lives. And while most patients’ symptoms improve with a combination of psychotherapy and medicine, up to 20 percent of depressed patients do not imp...

Nearly a third of neurodevelopmental disorders are thought to have a genetic basis and the most recent ACMG guidelines, from 2010, recommend Chromosomal Microarray (CMA) and fragile X testing as first tier genetic tests. In a recent study published in GIM, Srivastava et al carried out a meta-analysis of 30 papers published since those guidelines were issued and determined exome sequencing had a si...

Almost 10% of newborn infants develop significant hyperbilirubinemia, and many require phototherapy treatment. This is costly and can increase the likelihood of patients developing allergic diseases. However the costs of not treating neonatal jaundice can be more severe as it can cause lifelong disability. Precise patient monitoring and deliberate treatment assignment are therefore essential for a...

Why do the tropics contain such a diversity of life? In this episode, we explore this question with Matt Orton and Prof. Sarah Adamowicz from the University of Guelph. Listen to them discuss their recent research paper – Is molecular evolution faster in the tropics? – and hear about the challenge it poses to the long standing Evolutionary Speed Hypothesis. Associated article: Is molecular evolutio...

In this episode we explore the genetic structuring of orchids in the cloud rainforests of Ecuador. While we mainly think of orchids as ornamental houseplants, many wild species are vulnerable to poaching or deforestation. In a recent Heredity paper, Professor José Iriondo (King Juan Carlos University, Madrid) and colleagues investigated the fine-scale genetic structure of an unassuming orchid in a...

From the days of Darwin and Mendel, studies on colouration have played a vital role in deciphering the mechanisms of natural selection and genetic heredity. While this work has encompassed many species from all branches of the tree of life, a particularly noteworthy one is the incredibly colour diverse grove snail, Cepaea nemoralis. In this special double-whammy episode, we discuss two recent Here...

Direct-to-consumer genetic/genomic testing is rising in popularity and at the same time research shows medical genetic testing targeting only at-risk populations might miss people who can benefit from testing. In a recent study published in GIM, researchers considered the pros and cons of offering genomic screening to all young adults in a single-payer healthcare system. They found the screening w...

In vivo textural and morphometric analysis of placental development in healthy & growth-restricted pregnancies using magnetic resonance imaging Placental dysfunction is a leading cause of morbidity and mortality in children. Yet, despite its central importance, there is a lack of tools to assess in vivo placental health. Ex vivo evaluation of placentas has shown there to be micro-architectural cha...

Research has demonstrated that, overall, women are more vulnerable to drug addiction than men are. They become addicted more quickly after first using, they have a harder time staying off drugs, and they relapse at higher rates. But most studies have focused on men, and models that have been developed nearly entirely focus on male subjects. Now, two things are changing the situation: scientists ar...

In a recent study published in GIM, researchers assessed an expanded non-invasive prenatal screening test on 94,000 women and found the predictive value for DiGeorge Syndrome was higher than that of current screens. In this month’s episode of GIM’s GenePod podcast, host Cynthia Graber talks with study author Dr. Deshang Liang about how the new screen might improve upon current widely available scr...

In a recent article in Genetics in Medicine (GIM), Maiese et al. reported the findings of a survey of the practices of 924 genetics professionals. Compared to data collected a decade ago, the authors found increased caseloads for practitioners and longer wait times for patients seeking genetic services. In this month's episode of GenePod, GIM's monthly podcast, host Cynthia Graber talks with co-au...

Over the past decade, the use of the term 'food addiction' to describe an unhealthy approach to eating has grown. It refers to the idea that, for some people, their inability to control their food intake has similarities to that of a drug of abuse. Paul Kenny is the chair of the Department of Neuroscience at the Icahn School of Medicine in New York. He's one of two authors of a recent circumspecti...

Bronchopulmonary Dysplasia (BPD) is a form of Chronic lung disease and results from extreme pre-term birth. Systemic corticosteroid therapy is used postnatally to reduce the severity of BPD, however there is a large range in the phenotypic response to this treatment. In this episode, we speak to Tamorah Lewis, a neonatologist at Children's Mercy Hospital in Kansas City, who aimed to identify pharm...

Metabolic syndrome has been a growing problem in recent decades in both adult and pediatric populations. Time-restricted feeding (TRF), has been shown to attenuate metabolic disorders and obesity in adults. It is thought to be superior to surgical interventions and other dietary patterns as it is non-invasive, and does not lead to unbearable hunger. However, there is a lack of data on its effects...

Little is known about the prevalence and economic impact of genetic disorders in children. In this month's episode of GenePod, Cynthia Graber interviews Dr. Nina Gonzaludo about the prevalence of genetic disorders in a large population of hospitalized children. Dr. Gonzaludo discusses the disproportionate use of healthcare resources by patients likely to have genetic disorders and the possibility...

While there is little doubt that the grey wolf is one of the world's most iconic species, it is equally true that it is one of the world's most reviled. This later sentiment has seen them extirpated from much of their former habitat. However, in a few places, wolves are making a comeback. In this episode, Sarah Hendricks, Dr Rena M. Schweizer and Prof. Robert Wayne discuss their recent research ex...

Every winter, geneticists from around the world brave the unpredictable weather to gather for the annual Population Genetics Group Conference. This year, Oxford Brookes University played host to the 52nd such meeting, and with a delegate list of almost 250 researchers, a programme of 106 talks, and around 41 posters, it proved to be a three day celebration of the latest and greatest research in th...