Karl Blau obituary

iOur friend and former colleague, Karl Blau, who has died aged 84, was a talented and internationally respected biochemist. In 1966, Karl was invited to take charge of a laboratory at the North Carolina School of Medicine in Chapel Hill, where he published important early studies on the metabolites produced by children with inherited metabolic diseases, particularly phenylketonuria.In 1972, he established one of the UK's first prenatal diagnostic laboratories for inherited diseases, at Queen Charlotte's maternity hospital in London. Karl developed a particular interest in the prenatal diagnosis of cystic fibrosis; in the event, DNA screening subsequently eclipsed his work. He published many original papers and co-authored, with Graham King, the influential Handbook of Derivatives for Chromatography (1977).Karl was a delightful and supportive colleague. He combined liberal and tolerant views with a compendious knowledge and a sense of humour that was never malevolent. He retired in 1992 and pursued one of his ongoing interests: writing science-fiction novels. In earlier years he had enjoyed sailing and skiing.He was born in Vienna, where his father was a senior civil servant in the Austrian transport ministry. Karl's father was Catholic, from a Jewish background, his mother Protestant. At the time of the Anschluss, his parents (who survived the war) sent Karl to Britain under the auspices of "the Church of England Committee for Non-Aryan Christians". Karl lodged with...
Source: Guardian Unlimited Science - Category: Science Tags: Obituaries Biology guardian.co.uk Chemistry Biochemistry and molecular biology Science From the Guardian Source Type: news

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ConclusionOur observations demonstrate the utility of population ‐specific allele frequency data to the diagnosis of monogenic disorders using high‐throughput technologies.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
CONCLUSIONS: The observed prevalence of RD, based on NBS, corresponds to that expected, more precisely it was higher for BTD and lower for MSUD, IVA, CBSD HCU, MCADD and VLCADD. Early detection of rare diseases by means of NBS is an effective secondary prevention tool. PMID: 31241292 [PubMed - in process]
Source: Central European Journal of Public Health - Category: International Medicine & Public Health Tags: Cent Eur J Public Health Source Type: research
AbstractThe Israeli population mainly includes Jews, Muslim and Christian Arabs, and Druze. Data on genetic diseases present in the population have been systematically collected and are available online in the Israeli national genetic database. Among the Israeli Arabs in December 31 2018, the database included molecular data on six diseases relatively frequent in the whole population: thalassemia, familial Mediterranean fever (FMF), cystic fibrosis, deafness, phenylketonuria or congenital adrenal hyperplasia as well as data on 632 autosomal recessive diseases among Muslim Israeli Arabs, 52 among the Christian Arabs and 79 ...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research
Abstract Protein folding is the process by which a polypeptide chain acquires its functional, native 3D structure. Protein misfolding, on the other hand, is a process in which proteins fails to fold into its native functional conformation. This misfolding of proteins may lead to precipitation of number of serious diseases such as Cystic fibrosis (CF), Alzheimer's disease (AD), Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS) etc. Protein quality-control (PQC) systems, consisting of molecular chaperones, proteases and regulatory factors, help in protein folding and prevent its aggregation. At the s...
Source: Current Protein and Peptide Science - Category: Biochemistry Authors: Tags: Curr Protein Pept Sci Source Type: research
AbstractBackgroundThere is little known regarding how familiar parents are with the newborn bloodspot screening (NBS) test or how well parents of a child with a screen-detected condition understand that condition initially.AimThe study aim was to examine parental NBS awareness and conditions screened.MethodsTwo studies were conducted: [1] Parents of children with cystic fibrosis (CF) detected via NBS and subsequently, diagnosed (n = 124) completed a telephone questionnaire regarding information they received at the time of NBS. [2] A cross-sectional study of women (n = 662 (58%) antenatal;n&thin...
Source: Irish Journal of Medical Science - Category: General Medicine Source Type: research
Discussion “Literacy is traditionally meant as the ability to read and write. The modern term’s meaning has been expanded to include the ability to use language, numbers, images, computers, and other basic means to understand, communicate, gain useful knowledge, solve mathematical problems and use the dominant symbol systems of a culture.” The earliest written communication was in 3500-3000 BCE, with the earliest alphabet being from 1200-750 BCE. Although the percentage of the world’s adult literacy rate is increasing each decade by ~5%, “…from 55.7 per cent in 1950 to 86.2 per cent in...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
This report would examine developments at the state and federal-level, court cases, and current views from stakeholders. Policy Questions Which states have PAS laws and what do those laws provide? What protections against abuse of PAS?What have the Supreme Court and lower courts held regarding individuals’ rights under PAS laws? The laws themselves?Is there evidence that persons with disabilities are being denied treatment by insurance companies but offered PAS instead, as NCD predicted?How is PAS viewed by disability organizations? Has this evolved in the past 13 years? If so why? If not, why?Are persons with disabi...
Source: blog.bioethics.net - Category: Medical Ethics Authors: Tags: Health Care syndicated Source Type: blogs
Purpose of review: The purpose of this review is to summarize the development and recent advancements of newborn screening. Recent findings: Early initiation of medical care has modified the outcome for many disorders that were previously associated with high morbidity (such as cystic fibrosis, primary immune deficiencies, and inborn errors of metabolism) or with significant neurodevelopmental disabilities (such as phenylketonuria and congenital hypothyroidism). The new era of mass spectrometry and next generation sequencing enables the expansion of the newborn screen panel, and will help to address technical issues such ...
Source: Current Opinion in Pediatrics - Category: Pediatrics Tags: GENETICS: Edited by Nathaniel H. Robin Source Type: research
Authors: Emery AE Abstract In certain autosomal recessive disorders there is suggestive evidence that heterozygous carriers may have some selective advantage over normal homozygotes. These include, for example, cystic fibrosis, Tay-Sachs disease and phenylketonuria. The best example so far, however, is that of significant heterozygous advantage in sickle-cell anaemia with increased resistance to falciparum malaria. PMID: 27245530 [PubMed - in process]
Source: South African Medical Journal - Category: African Health Tags: S Afr Med J Source Type: research
In January 2015, the National Health Service Newborn Blood Spot Screening Programme in England was expanded to include four additional diseases: maple syrup urine disease (MSUD), isovaleric acidaemia (IVA), glutaric aciduria type 1 (GA1) and homocystinuria (pyridoxine-non-responsive type). The UK National Screening Committee recommended the addition of these inherited metabolic conditions following a pilot study in England. They now form part of routine newborn screening, along with testing for phenylketonuria, cystic fibrosis, sickle cell disease, congenital hypothyroidism and medium-chain acyl-CoA dehydrogenase deficienc...
Source: Archives of Disease in Childhood - Education and Practice - Category: Pediatrics Authors: Tags: Pancreas and biliary tract, Journalology, Guideline review, Childhood nutrition, Diet, Reproductive medicine, Childhood nutrition (paediatrics), Child health, Infant health, Infant nutrition (including breastfeeding), Neonatal and paediatric intensive car Source Type: research
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