Rare disease

  • Why measuring functional change could sharpen the next generation of evidence in AL amyloidosis

    Why measuring functional change could sharpen the next generation of evidence in AL amyloidosis

    By Sanius Health Survival in systemic light chain amyloidosis has improved materially, yet the central challenge has not disappeared. Patients can live longer while still carrying profound cardiac limitation, fatigue and loss of independence. For haematology, the next question is therefore more demanding than whether treatment extends life. We must also establish whether patients can [...]

  • The missing evidence behind sickle cell’s repeated drug setbacks

    The missing evidence behind sickle cell’s repeated drug setbacks

    By Sanius Health It's been an amazing but in some parts disappointing summer. Over the course of a hundred years of scientific progress in sickle cell disease and innovations in gene therapies, we have yet to see an extraordinary impact for patients. The molecular story has been extraordinary, from the first description of sickled cells [...]

  • Newborns in England to get life-saving genetic test

    Newborns in England to get life-saving genetic test

    A genetic test for spinal muscular atrophy (SMA) will be rolled out across England, with babies due to be screened from birth under a national evaluation. The programme is intended to help clinicians identify SMA before symptoms appear. Early diagnosis can allow babies to receive treatment sooner, which can significantly improve outcomes for affected children. [...]

  • The UK is racing to sequence every newborn – so why do we still skip the genome before pregnancy?

    The UK is racing to sequence every newborn – so why do we still skip the genome before pregnancy?

    Article produced in association with Jeen Health Britain has committed serious money and political will to genomics at birth and during pregnancy. The one window it keeps overlooking is the cheapest and most actionable of all - the months before conception. A screening timeline with a gap at the start The UK has rarely been [...]

  • What a karyotype actually shows: when it’s offered, and what it can and can’t tell you

    What a karyotype actually shows: when it’s offered, and what it can and can’t tell you

    Article produced in association with London Pregnancy Clinic Karyotype testing has become a familiar part of fertility and pregnancy investigations. The test is older, and more specific in what it can answer, than many people realise. Karyotyping is one of the oldest genetic tests still in routine clinical use. The technology dates back to the [...]

  • MHRA proposes new regulatory pathway for rare disease therapies

    MHRA proposes new regulatory pathway for rare disease therapies

    The Medicines and Healthcare products Regulatory Agency (MHRA) has opened consultation on a rare disease pathway aimed at speeding therapies to patients and asking industry to help shape the final framework. The draft sets out a technology-agnostic regulatory framework, meaning it is intended to work across different therapy types, to address scientific, evidence and commercial [...]

  • Can AI read karyotypes better than humans? Why machine learning is changing cytogenetics

    Can AI read karyotypes better than humans? Why machine learning is changing cytogenetics

    Article produced in association with Jeen Health Karyotyping is one of the oldest tools in medical genetics. For more than fifty years, cytogeneticists have been staining chromosomes, viewing them under a light microscope, and arranging them by size into the familiar numbered karyogram. The work is meticulous, labour-intensive and requires years of training. It is [...]

  • Newborn DNA screening: What’s changing in the UK and where private testing fits

    Newborn DNA screening: What’s changing in the UK and where private testing fits

    Article produced in association with London Pregnancy Clinic Within the first few days of life, every baby born in England is offered a blood spot test, commonly known as the heel prick test.   The NHS Newborn Blood Spot Screening Programme screens for nine rare but serious conditions and has been responsible for [...]

  • Scotland to test newborns for rare genetic condition in UK first

    Scotland to test newborns for rare genetic condition in UK first

    Scotland has become the first part of the UK to test newborn babies for SMA, a rare genetic condition that causes progressive muscle weakness. The condition was recently highlighted by singer Jesy Nelson, formerly of Little Mix, whose twin baby daughters have been diagnosed with SMA. Babies can be identified as having SMA [...]

  • Genentech antibody fails in rare disease trials

    Genentech antibody fails in rare disease trials

    Genentech antibody emugrobart has failed in two rare diseases, raising questions over whether it can preserve muscle in ongoing obesity trials. Roche’s Bay Area subsidiary disclosed the discontinued programmes in separate 19 March letters to the patient communities for spinal muscular atrophy (SMA) and facioscapulohumeral muscular dystrophy (FSHD). For both conditions, Genentech said it had [...]