17th July - Rare Diseases & Urology

Free day of webinars from PULSE365

Event overview:

Free day of webinars from PULSE365

Rare Diseases and Urology

Wednesday, 17 July 2024

09:30 - 10:25
Chair's opening remarks followed by: Rare renal diseases in childhood and how to manage any rare disease

Dr Aaliya Goyal, General Practitioner, Occupational Health Doctor, Nationally Elected Member of RCGP Council

Dr Larissa Kerecuk, Rare Disease Lead, Consultant Paediatric Nephrologist, Birmingham Women's and Children’s NHS Foundation Trust

  • Challenges faced by rare disease patients
  • Wide Range of paediatric renal conditions
  • Congenital and acquired
  • Specific management for renal rare diseases
  • Best sources of information for health care professionals
  • How to work with expert patient and/or parent for benefit of patient

10:40 - 11:25
Acromegaly & Growth Hormone Deficiency in adults

Rob Murray, Consultant Endocrinologist, Leeds Teaching Hospitals NHS Trust, Honorary Associate Professor, University of Leeds, Training Program Director D&E, HEEYH

Dr Sofia Llahana, NIHR Post-Doctoral Clinical Lecturer, City, University of London, Tech Innovation Fellow, ZincVC, Hon Consultant Nurse in Endocrinology, University College London Hospitals NHS Foundation Trust

  • Acromegaly
  • Growth Hormone Deficiency in Adults (GHDA)
  • Patient’s experience of GHDA

11:40 - 12:10
Using childhood short stature to diagnose underlying pathology and multisystem disorders

Prof Helen Storr, Queen Mary University of London Professor and Honorary Consultant Paediatric Endocrinologist

Prof Justin Davies, University of Southampton Consultant Paediatric Endocrinologist

  • How to assess and when and to refer childhood short stature – recognition of overlooked groups
  • Why children with short stature following being born small for gestational age (SGA) demand extra scrutiny
  • Selected examples of childhood short stature, associated with SGA, illustrating how short stature is a marker rare disease and genetic conditions
  • How referral and diagnosis make a difference for long-term outcomes/health surveillance

12:25 - 13:10
Inherited metabolic disorders in adults - what the GP needs to know about PKU

Dr Gisela Wilcox, Honorary Reader & Consultant in Medical Biochemistry and Metabolic Medicine & North Wales Clinical Lead

  • PKU – beyond newborn screening
  • Transition in PKU
  • How PKU impacts adults at different ages
  • Supporting your adult PKU patient
  • Maternal PKU and post-partum care
  • Care of late diagnosed and older adults with PKU

13:25 - 14:10
Sponsored session - details coming soon

14:25 - 15:10
Session details coming soon

15:25 - 16:10
Management of male hypogonadism

Dr Channa Jayasena, Consultant in Reproductive Endocrinology, Imperial College London and Head of Andrology Services, Imperial College Healthcare NHS Trust

This session will cover the UK Society for Endocrinology recommendations for:

  • Common causes of male hypogonadism in primary care
  • How best to diagnosis male hypogonadism
  • Practical tips on the benefits / risks of testosterone therapy

Conference ends

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