Sheraz Khan
A5058894895- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- Genomics and Rare Diseases
- RNA modifications and cancer
- HIV/AIDS Research and Interventions
- Hereditary Neurological Disorders
- Hedgehog Signaling Pathway Studies
- Genetic and Kidney Cyst Diseases
- Genetic Syndromes and Imprinting
- Neurological diseases and metabolism
- Hormonal Regulation and Hypertension
- RNA regulation and disease
- Genetic Neurodegenerative Diseases
- Ophthalmology and Visual Health Research
- Mitochondrial Function and Pathology
- Adrenal and Paraganglionic Tumors
- Cerebrovascular and genetic disorders
- Consumer Packaging Perceptions and Trends
- Genomic variations and chromosomal abnormalities
- Healthcare Decision-Making and Restraints
- HIV, Drug Use, Sexual Risk
- Neurogenetic and Muscular Disorders Research
- DNA Repair Mechanisms
- Moyamoya disease diagnosis and treatment
- Cardiomyopathy and Myosin Studies
Lurie Children's Hospital
2023-2025
National Institute for Biotechnology and Genetic Engineering
2008-2025
Pakistan Institute of Engineering and Applied Sciences
2017-2025
Northwestern University
2025
University of Okara
2023-2024
Ahvaz Jundishapur University of Medical Sciences
2023
Our Lady of Lourdes Hospital
2018
Risk Management Solutions (United Kingdom)
2017
Manchester Royal Infirmary
2009
PurposeWe aimed to define a novel autosomal recessive neurodevelopmental disorder, characterize its clinical features, and identify the underlying genetic cause for this condition.MethodsWe performed detailed characterization of 19 individuals from nine unrelated, consanguineous families with disorder. We used genome/exome sequencing approaches, linkage cosegregation analyses disease-causing variants, we three-dimensional molecular in silico analysis predict causality variants where...
Abstract SPOUT1/CENP-32 encodes a putative SPOUT RNA methyltransferase previously identified as mitotic chromosome associated protein. depletion leads to centrosome detachment from the spindle poles and misalignment. Aided by gene matching platforms, here we identify 28 individuals with neurodevelopmental delays 21 families bi-allelic variants in detected exome/genome sequencing. Zebrafish spout1/cenp-32 mutants show reduction larval head size concomitant apoptosis likely altered cell cycle...
Abstract MED27 is a subunit of the Mediator multiprotein complex, which involved in transcriptional regulation. Biallelic variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with spasticity, cataracts and cerebellar hypoplasia. We further delineate clinical phenotype MED27-related disease by characterizing radiological features 57 affected individuals from 30 unrelated families biallelic variants. Using exome sequencing extensive...
Congenital microcephaly is the clinical presentation of significantly reduced head circumference at birth. It manifests as both non-syndromic—microcephaly primary hereditary (MCPH)—and syndromic forms and shows considerable inter- intrafamilial variability. has been hypothesized that additional genetic variants may be responsible for this variability, but data are sparse. We have conducted deep phenotyping genotyping five Pakistani multiplex families with either MCPH (n = 3) or Seckel...
Cardiac conduction disease (CCD), which causes altered electrical impulse propagation in the heart, is a life-threatening condition with high morbidity and mortality. It exhibits genetic clinical heterogeneity diverse pathomechanisms, but most cases, it disrupts synchronous activity of impulse-generating nodes impulse-conduction underlying normal heartbeat. In this study, we investigated consanguineous Pakistani family comprised four patients CCD. We applied whole exome sequencing (WES)...
Bardet-Biedl syndrome (BBS), is an emblematic ciliopathy hallmarked by pleiotropy, phenotype variability, and extensive genetic heterogeneity. BBS a rare (~1/140,000 to ~1/160,000 in Europe) autosomal recessive pediatric disorder characterized retinal degeneration, truncal obesity, polydactyly, cognitive impairment, renal dysfunction, hypogonadism. Twenty-eight genes involved ciliary structure or function have been implicated BBS, explain the molecular basis for ~75%-80% of individuals. To...
Bardet-Biedl syndrome (BBS) is a clinically and genetically heterogenous disorder that manifests as result of primary cilia impairment. Cilia are present on most cell types, thus BBS multisystemic condition involving the majority organ systems. The core features include retinal degeneration, obesity, polydactyly, cognitive impairment, renal anomalies urogenital malformations. To date, pathogenic variants in 26 genes have been shown to be involved molecular basis this rare ciliopathy. Of...
Primary microcephaly (MCPH) is a prenatal condition of small brain size with varying degree intellectual disability. It heterogeneous genetic disorder 28 associated genes reported so far. Most these encode centrosomal proteins. Recently, AKNA was recognized as novel protein that regulates neurogenesis via microtubule organization, making likely candidate gene for MCPH. Using linkage analysis and whole-exome sequencing, we found frameshift variant in exon 12 (NM_030767.4: c.2737delG)...
In 2013, NHS England specified that: ‘... every person with a long-term condition or disability has personalised care plan supporting them to develop the knowledge, skills and confidence manage their own health’ .1 Around 40% of UK population experience while 65% people aged 65–84 years have two more.2 This is an all-time high, figures set rise. places significant personal, social, economic burden on individuals, families, community. The use plans multiple conditions — by assessing...
Tuberculosis is most common infectious disease of the lungs and a leading cause Mortality among caused by Mycobacterium tuberculosis. Its infections occurring in about 1% population each year. Objective: To trace out effects TB peoples different ages, areas, lifestyle also check Awareness level Educated Married peoples. Methods: A total 200 Samples were collected from Agency Headquarter hospital Khar Bajaur screened for Microscopic examination, X-rays Gene Xpert. Results: The Result revealed...
SPOUT1/CENP-32 encodes a putative SPOUT RNA methyltransferase previously identified as mitotic chromosome associated protein. depletion leads to centrosome detachment from the spindle poles and misalignment. Aided by gene matching platforms, we 24 individuals with neurodevelopmental delays 18 families bi-allelic variants in detected exome/genome sequencing. Zebrafish spout1/cenp-32 mutants showed reduction larval head size concomitant apoptosis likely altered cell cycle progression. In vivo...
This cross-sectional study aimed to evaluate the knowledge, attitudes and practices of secondary school students regarding carbonated drinks in district Rahim Yar Khan, Punjab, Pakistan. was conducted through a self-reported questionnaire, 350 participated survey from rural (n=148; 42.29%) urban areas (n=202; 57.71%). 77.02% 84.65% were aware drinks. 31.08% 44.05% mindful drinks' components (p=0.014). 16.89% 81.76% known know caloric values (p<0.001). 89.19% 96.04% sugar-free (p=0.012)....
Background: Childhood obesity is a growing global epidemic affecting both children and adults. According to the World Health Organization, 43 million under five are overweight worldwide, concern that extends into adulthood with almost 1.5 billion affected individuals. Objective: The aim of this study was assess prevalence overweight, obesity, underweight among primary school in district Swat, Pakistan. Methods: This cross-sectional descriptive conducted from August 2023 February 2024,...
Objectives The objective of the paper was to survey patients’ preference in relation a continuity, or split, model inpatient consultant care Louth Mental Health Service. Methods A written administered all patients attending Service over 2-week period. Participants were asked for their preferred and clinical information obtained from notes. Results In total, 149 completed questionnaire 103 respondents (69%) indicated continuity psychiatric care. There trend those who reported past experience...
A 61-year-old woman was referred by her GP with a 12-month history of weight gain, facial puffiness, difficulty climbing stairs and the tendency to bruise easily. On clinical examination she had moon face, bruising all over body raised blood pressure 170/100 mmHg. Routine haematological biochemical tests were normal apart from glucose level 16 mmol/litre. 9 am cortisol on three consecutive occasions: 698, 842 716 nmol/litre (normal range 119–618 nmol/litre). simultaneous adrenocorticotropic...